Study Notes – Pediatrics

James Lamberg

28Jul2010

Textbooks: Nelson Essentials of Pediatrics, Pediatric Secrets, First Aid for Pediatric Clerkship -------------------------------------------------------------------------------------------------------------------------------------------Common Problems in Pediatrics Preventative: Immunizations, Normal Growth and Development Cough: URI, Asthma, Pneumonia, Bronchiolitis, Allergic Rhinitis Fever: Common Viral Illnesses, UTI, Occult Bacteremia, Meningitis, Febrile Seizures Sore Throat: Group A Beta-Hemolytic Streptococcal Pharyngitis, Mononucleosis Ear Pain: Otitis Media, Otitis Externa Abdominal Pain: Gastroenteritis, UTI, PID, Functional Abdominal Pain Dermatitis: Atopic Dermatitis, Viral Exanthems, Impetigo, Monilial and Tinea Infections, Scabies Heart Murmurs: Innocent Murmurs, Septal Defects Developmental: Developmental Delay, Failure to Thrive Hematology: Sickle Cell Disease, Thalassemias Nephrology: UTI, Nephrotic/Nephritic Syndromes, Proteinuria Chronic: Allergies, Asthma, Cerebral Palsy, Cystic Fibrosis, Diabetes Mellitus, Seizure Disorders -------------------------------------------------------------------------------------------------------------------------------------------Procedures: NEJM Videos In Clinical Medicine: http://www.nejm.org/multimedia/videosinclinicalmedicine -------------------------------------------------------------------------------------------------------------------------------------------How To Succeed – First Aid For The Pediatrics Clerkship (Stead, Stead, & Kaufman) Be On Time: Most wards teams begin rounding around 8am. Give yourself at least 15 minutes per patient for prerounding to learn about events that occurred overnight or lab/imaging results. Dress In A Professional Manner: Regardless of what the attending wears. A short white coat should be worn over your professional dress clothes unless it is discouraged. Act In A Pleasant Manner: The medical rotation is often difficult, stressful, and tiring. Smooth out your experience by being nice to be around. Smile a lot and learn everyone’s name. Don’t be afraid to ask how your resident’s weekend was. If you do not understand or disagree with a treatment plan or diagnosis, do not “challenge.” Instead, say “I’m sorry, I don’t quite understand, could you please explain...” Show kindness and compassion toward your patients. Never participate in callous talk about patients. Take Responsibility: Know everything there is to know about your patients: their history, test results, details about their medical problem, and prognosis. Keep your intern or resident informed of new developments that they might not be aware of, and ask them for any updates you might not be aware of. Assist the team in developing a plan; speak to radiology, consultants, and family. Never give bad news to patients or family members without the assistance of your supervising resident or attending. Respect Patient’s Rights: 1) All patients have the right to have their personal medical information kept private. This means do not discuss the patient’s information with family members without that patient’s consent, and do not discuss any patient in hallways, elevators, or cafeterias. 2) All patients have the right to refuse treatment. This means they can refuse treatment by a specific individual (you, the medical student) or of a specific type (no nasogastric tube). Patients can even refuse life-saving treatment. The only exceptions to this rule are if the patient is deemed to not have the capacity to make decisions or understand situations, in which case a health care proxy should be sought, or if the patient is suicidal or homicidal. 3) All patients should be informed of the right to seek advanced directives on admission. Often, this is done by the admissions staff, in a booklet. If your patient is chronically ill or has a life-threatening illness, address the subject of advanced directives with the assistance of your attending. More Tips: Volunteer, be a team player, be honest, and keep patient information handy. Present In An Organized Manner: “This is a [age] year old [gender] with a history of [major/pertinent history such as asthma, prematurity, etc. or otherwise healthy] who presented on [date] with [major symptoms, such as cough, fever, and chills], and was found to have [working diagnosis]. [Tests done] showed [results]. Yesterday/ overnight the patient [state important changes, new plan, new tests, new medications]. This morning the patient feels [state the patient’s words], and the physical exam is significant for [state major findings]. Plan is [state plan].” On Outpatient: The ambulatory part of the pediatrics rotation consists of mainly two parts: focused histories and physicals for acute problems and well-child visits. Usually, you will see the patient first, to take the history and do the physical exam. It is important to strike a balance between obtaining a thorough exam and not upsetting the child so much that the attending won’t be able to recheck any pertinent parts of it. For acute cases, present the patient distinctly, including an appropriate differential diagnosis and plan. In this section, be sure to include possible etiologies, such as specific bacteria, as well as a specific treatment (e.g., a particular antibiotic, dose, and course of

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Study Notes – Pediatrics

James Lamberg

28Jul2010

treatment). For presentation of well-child visits, cover all the bases, but focus on the patients’ concerns and your findings. There are specific issues to discuss depending on the age of the child. Past history and development is important, but so is anticipatory guidance–prevention and expectations for what is to come. The goal is to be both efficient and thorough. -------------------------------------------------------------------------------------------------------------------------------------------Top 100 Secrets – Pediatric Secrets (4th, Polin & Ditmar) 1) Methods to increase compliance by adolescents with medical regimens include the following: simplifying the regimen, making the patient responsible, discussing potential side effects, using praise liberally, and educating the patient. 2) A pelvic examination is not required before prescribing oral contraceptives for teenagers without risk factors. Appropriate screening for sexually transmitted diseases and possible cervical dysplasia can be scheduled, but delaying oral contraception unnecessarily increases the risk of pregnancy. 3) Emergency contraception should be discussed with all sexually active adolescents; 90% of teenage pregnancies are unintended. 4) Teenagers with attention deficit hyperactivity disorder (ADHD) and conduct disorders are at high risk for substance abuse disorders. Substance abuse is often associated with comorbid psychiatric disorders. 5) Calluses over the metacarpophalangeal joints of the index and/or middle fingers (Russell sign) may indicate repetitive trauma from self-induced attempts at vomiting in patients with eating disorders. 6) Appreciating that ADHD is a chronic condition (like asthma or diabetes) is useful for management strategies, follow up, and ongoing patient/parental education and involvement. 7) Although colic is common and resolves spontaneously by 3 months, do not underestimate the physical and psychological impact of the condition on a family. 8) Bilingual children develop speech milestones normally; two-language households should not be presumed as a cause of speech delay. 9) Most amblyopia is unilateral; vision testing solely with both eyes open is inadequate. 10) Congenitally missing or misshapen teeth can be markers for hereditary syndromes. 11) Syncope in a deaf child should lead one to suspect prolongation of the QT wave on the electrocardiogram. 12) Bounding pulses in an infant with congestive heart failure should cause one to consider a large patient ductus arteriosus. 13) If a bruit is heard over the anterior fontanel in a newborn with congestive heart failure, suspect a systemic arteriovenous fistula. 14) The chief complaint in a child with congestive heart failure may be nonspecific abdominal pain. 15) Diastolic murmurs are never innocent and deserve further cardiac evaluation. 16) Patients with atypical Kawasaki disease (documented by coronary artery abnormalities despite not fulfilling classic criteria) are usually younger (<1 year old) and most commonly lack cervical adenopathy and extremity changes. 17) Neonates with midline lumbosacral lesions (e.g., sacral pits, hypertrichosis, lipomas) should have screening imaging of the spine performed to search for occult spinal dysraphism. 18) Hemangiomas in the "beard distribution" may be associated with internal airway hemangiomas. 19) Infantile acne necessitates an endocrine workup to rule out precocious puberty. 20) If a child develops psoriasis for the first time or has a flare of existing disease, look for streptococcal pharyngitis. 21) Look for associated autoimmune thyroiditis in children who present with a family history of thyroid disease and extensive alopecia areata or vitiligo. 22) Most cardiac arrests in children are secondary to respiratory arrest. Therefore, early recognition of respiratory distress and failure in children is crucial. 23) Because children are much more elastic than adults, beware of internal injuries after trauma; these can occur without obvious skeletal injuries. 24) Because children get colder faster than adults as the result of a higher ratio of body surface area to body mass, be sure that hypothermia is not compounding hemodynamic instability in a pediatric trauma patient in shock. 25) Hypotension and excessive fluid restriction should be avoided at all costs in the child in shock with severe head injury because such a patient is highly sensitive to secondary brain injury from hypotension. 26) The most common finding upon the examination of a child's genitalia after suspected sexual abuse is a normal examination.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

27) Because the size of a normal hymenal opening in a prepubertal child can vary significantly, the quality and smoothness of the contours of the hymenal opening, including tears and scarring, are more sensitive indicators of sexual abuse. 28) Palpation for an enlarged or nodular thyroid is one of the most overlooked parts of the pediatric physical examination in all age groups. 29) Because 20-40% of solitary thyroid nodules in adolescents are malignant, an expedited evaluation is needed if a nodule is discovered. 30) Unless a blood sugar level is checked, the diagnosis of new-onset diabetic ketoacidosis can be delayed because abdominal pain can mimic appendicitis, and hyperventilation can mimic pneumonia. 31) Beware of syndrome of inappropriate antidiuretic hormone secretion and possible cerebral edema if a normal or low sodium level begins to fall with fluid replenishment during the treatment of diabetic ketoacidosis. 32) Acanthosis nigricans is found in 90% of youth diagnosed with type 2 diabetes. 33) Growth hormone deficiency present during the first year of life is associated with hypoglycemia; after the age of 5 years, it is associated with short stature. 34) Fecal soiling is associated with severe functional constipation. 35) More than 40% of infants regurgitate effortlessly more than once a day. 36) Nasogastric lavage is a simple method for differentiating upper gastrointestinal bleeding from lower gastrointestinal bleeding. 37) Conjugated hyperbilirubinemia in any child is abnormal and deserves further investigation. 38) Potential long-term complications of pediatric inflammatory bowel disease include chronic growth failure, abscesses, fistulas, nephrolithiasis, and toxic megacolon. 39) Bilious emesis in a newborn represents a sign of potential obstruction and is a true gastrointestinal emergency. 40) In patients with Down syndrome and behavioral problems, do not overlook hearing loss (both sensorineural and conductive); it occurs in up to two thirds of patients with this condition, and it can be a possible contributor to those types of problems. 41) Fluorescence in situ hybridization (FISH) is indicated for the rapid diagnosis of trisomies 13 and 18 and multiple syndromes in children with moderate to severe mental retardation and apparently normal chromosomes (subtelomeric FISH probes). 42) Three or more minor malformations should raise concern about the presence of a major malformation. 43) The diagnosis of fetal alcohol syndrome is problematic in infants because facial growth and development can modify previously diagnostic features over a 4- to 6-year period. 44) Diabetes mellitus is the most common teratogenic state; insulin-dependent diabetic mothers have infants with an eight-fold increase in structural anomalies. 45) An infant with nonsyndromic sensorineural hearing loss should be tested for mutations in the connexin 26 gene. Mutations in that gene contribute to at least about 50% of autosomal recessive hearing loss and about 10-20% of all prelingual hearing loss. 46) In children <12 years old, the lower limit of normal for the mean corpuscular volume (MCV) can be estimated as 70 + (the child's age in years)/mm3. For a patient that is more than 12 years old, the lower limit for a normal MCV is 82/mm3. 47) In the setting of microcytosis, an elevated red blood cell distribution width index suggests a diagnosis of iron deficiency rather than thalassemia. 48) After iron supplementation for iron-deficiency anemia, the reticulocyte count should double in 1-2 weeks, and hemoglobin should increase by 1 gm/dL in 2-4 weeks. The most common reason for persistence of iron deficiency anemia is poor compliance with supplementation. 49) Children with elevated lead levels are at increased risk for iron deficiency anemia because lead competitively inhibits the absorption of iron. 50) Chronic transfusion therapy to reduce sickle hemoglobin levels to 30-40% of the total lowers the likelihood of stroke. 51) Because 30% of patients with hemophilia have no family history of the disorder, clinical suspicion is important in the presence of excessive and frequent ecchymoses. 52) Marked neutropenia (<500/mm3 absolute neutrophil count) in a previously healthy child often heralds the onset of overwhelming sepsis. 53) The determination of immunoglobulin G subclass concentrations is meaningless in children who are less than 4 years old. 54) Neutrophil deficiency should be considered in a newborn with a delayed separation of the umbilical cord (>3 weeks).

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Study Notes – Pediatrics

James Lamberg

28Jul2010

55) Clinical features of autoimmunity do not exclude the diagnosis of a primary immunodeficiency. 56) A male child with a liver abscess should be considered to have chronic granulomatous disease until it is proven otherwise. 57) The most common congenital infection is cytomegalovirus, which in some large screening studies occurs in up to 1.3% of newborns, although most of these infants remain asymptomatic. 58) Up to 25% of infants <28 days old with bacterial sepsis and positive blood cultures will have culture-confirmed meningitis. 59) Erythematous papules with a pale center ("doughnut lesions") located on the hard and soft palates are pathognomonic for streptococcal pharyngitis. 60) The red man syndrome, which is a complication of vancomycin administration, can usually be avoided by slowing the rate of drug infusion or by premedicating with diphenhydramine. 61) A petechial-purpuric rash in a glove-and-stocking distribution should raise the possibility of infection with parvovirus B19. 62) Perinatal asphyxia accounts for less than 15% of cases of cerebral palsy. 63) Because primary and secondary apnea are indistinguishable in newborns, the initial clinical response should be identical in the delivery room. 64) Hyperbilirubinemia is generally not an indication for the cessation of breast-feeding but rather for increasing its frequency. 65) Sepsis is in the differential diagnosis of virtually every neonatal sign and symptom. 66) Breast feeding lowers the risks of necrotizing enterocolitis and nosocomial sepsis. 67) Ten percent of febrile infants with documented urinary tract infections have normal urinalyses; this emphasizes the importance of obtaining a urine culture if clinical risk factors are present. 68) Vigorous correction of constipation has been shown to diminish both enuresis and the frequency of urinary tract infections. 69) Chromosomal and endocrinologic evaluation should be done if testes are bilaterally undescended and nonpalpable or one or two testicles are undescended with hypospadias present. 70) In patients with acute renal failure, the measurement of urinary indices (urine sodium concentration, fractional excretion of sodium, urine specific gravity, and osmolality) should be done before initiating any therapy to help distinguish between prerenal, renal, and postrenal etiologies. 71) The two most productive facets of patient evaluation to explain renal disease as a possible cause of symptoms are as follows: (1) the measurement of blood pressure and (2) the examination of the first morning void after the bladder is emptied of urine stored overnight (when a specimen is most likely to be concentrated). 72) The most common cause of persistent seizures is an inadequate serum antiepileptic level. 73) Antiepileptic drugs in tablet and capsule form produce less variation in blood concentrations than liquid preparations, particularly suspensions, do. 74) Resist polypharmacy: three or more medications have not been shown to improve seizure control as compared with one or two drugs, and side effects and compliance become much more problematic. 75) The diagnosis of cerebral palsy is rarely made at <1 year old because neurologic findings in infancy are subject to significant change. 76) Migraine headaches are usually bilateral in children but unilateral (75%) in adults. 77) Seizures with fever in patients older than 6 years of age should not be considered febrile seizures. 78) Children with fever and neutropenia must continue to receive broad-spectrum antibiotics until definitive signs of marrow recovery are documented, typically with the presence of a peripheral monocytosis and an absolute neutrophil count >200/mm3 and rising. 79) Empiric antifungal agents are administered to children with neutropenia who remain febrile or develop new fever within 3 to 7 days of starting broad-spectrum antibiotics because the risk of invasive fungal infection increases with the duration and depth of neutropenia. 80) After age and white blood cell count, early response to therapy is the most important prognostic feature for children with acute lymphoblastic leukemia. 81) Leukemias and lymphomas that have a high proliferation and cell turnover rate (e.g., Burkitt's lymphoma, T-cell lymphoblastic leukemia) place patients at the highest risk of complications from tumor lysis syndrome. 82) Eighty percent or more of patients who present with acute lymphoblastic leukemia have a normochromic, normocytic anemia with reticulocytopenia. 83) Because it changes more quickly as inflammation changes, C-reactive protein is better than sedimentation rate for monitoring the response to therapy in patients with osteomyelitis.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

84) Pseudoparalysis (with decreased arm or leg movement) with no systemic illness may be a presenting sign in an infant with osteomyelitis. 85) Back pain is atypical for scoliosis and may point to another diagnosis. 86) Consider magnetic resonance imaging for patients with scoliosis and the less common left-sided thoracic curves because 5-7% of these patients can have intraspinal abnormalities (e.g., hydromelia). 87) A plain x-ray is unreliable in the diagnosis of developmental dysplasia of the hip in infants less than 6 months of age because ossification of the femoral head is incomplete. 88) Older children with unexplained unilateral deformities (e.g., pes cavus) of an extremity should have screening magnetic resonance imaging to evaluate for intraspinal disease. 89) Asthma rarely causes clubbing in children. Consider other diseases, particularly cystic fibrosis. 90) Most children with recurrent pneumonia or persistent right middle lobe atelectasis have asthma. But … all that wheezes is not asthma. 91) Home peak flow monitoring is most helpful in those asthmatic patients with very labile disease or poor symptom recognition. 92) A normal respiratory rate strongly argues against a bacterial pneumonia. 93) Upper lobe pneumonias with radiation of pain to the neck can cause meningismus and mimic appendicitis; lower lobe pneumonias can present with abdominal pain. 94) Nasal polyps or rectal prolapse in children suggests cystic fibrosis. 95) The three most common causes of anaphylaxis in pediatric hospitals and emergency departments are latex, food, and drugs. Suspected allergies to shellfish, peanuts, and nuts warrant a prescription for an epinephrine pen because of the increased risk of future anaphylaxis. 96) Up to 10% of normal, healthy children may have low-level (1:10) positive-antinuclear antibody (ANA) testing that will remain positive. Without clinical or laboratory features of disease, it is of no significance. 97) The daily spiking fevers of systemic juvenile rheumatoid arthritis can precede the development of arthritis by weeks to months. 98) Antistreptolysin O antibodies are positive in only 80% of patients with acute rheumatic fever. Test for antiDNase B antibodies to increase the likelihood to more than 95% when diagnosing a recent group A beta-hemolytic infection. 99) Because up to 10% of patients can have asymptomatic Borrelia burgdorferi infection and because both immunoglobulin M and immunoglobulin G antibodies to B. burgdorferi can persist for 10-20 years, the diagnosis of Lyme disease in older children and adolescents can be tricky in patients with atypical clinical presentations. 100) Abdominal pain (mimicking an acute abdomen) and arthritis can frequently precede the rash in HenochSchönlein purpura disease and thus confuse the diagnosis. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Neonatology with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Newborn Skin * Newborn infant at birth is noted to have acrocyanosis, a heart rate of 140, grimaces to stimulation, and is active with a lusty cry. What is her APGAR score? * APGAR score 0: no heart rate, no respirations, no muscle tone, no reflex irritability (e.g. bulb suction), blue body. * APGAR score 1: HR < 100, weak cry, some extremity flexion, some reflex motion, pink body blue extremities. * APGAR score 2: HR > 100, vigorous cry, arms/legs flexed, reflex cry/withdrawal, pink all over. * Virginia Apgar, an anesthesiologist, developed the APGAR score. Useful tool for immediate assessment of the child. It is not used for later in life, only at birth. Useful for determining progression of resuscitation. * APGAR is for appearance, pulse, grimace, activity, and respirations. * Score 0 to 3 at one minute requires resuscitation. Do not wait for one minute though. 4 can be poor also. * Poor score at 5 minutes does not predict subsequent cerebral palsy. Poor score at 20 minutes predicts higher morbidity and mortality. * Score 8 to 10 is good. Scores 5 to 7 are fair. Newborn is any child under the age of 28 days. * Newborn infants has a blue-gray pigmented lesion on the sacral area. It is clearly demarcated and does not fade into the surrounding skin. What is the most likely diagnosis? Answer is Mongolian spot. They are more commonly seen in dark-skinned races. Up to 5% of Caucasian newborns will have it. * Differential diagnosis includes child abuse, so document Mongolian spots to prevent subsequent issues. Bruises will fade into surrounding skin; in that case consider child abuse. Mongolian spots can occur on any part of the body, typically seen on the buttocks or sacral area. They fade in months to a year. * Mongolian spots caused by heightened receptor response to melanocyte stimulating hormone.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Erythema toxicum is very common in newborns and should be differentiated from staphylococcal scalded skin syndrome (SSSS). Erythema toxicum does not appear in the first day of life, usually shows in 2-3 days. It is characterized by erythematous macules that can become blisters or pustules. It is migratory, such that the next day there may be clearing in some spots and new erythema in other spots. * Pustules of erythema toxicum neonatorum (red rash of the newborn), if scraped, will contain many eosinophils. * Staphylococcal scalded skin may be present in the first day of life, may present with pustules, skin will start to peel off. If you scrap it, it will form a blister like a burn (Nikolsky sign). Pustules will be full of neutrophils. * SSS babies will be ill, toxic in appearance, can have sepsis. * Treat erythema toxicum with reassurance of the parents. * Sebaceous gland hyperplasia looks like lots of little whiteheads, in areas that are more oily like nose. Treatment is to leave them alone. * Milia comes in fine-white (miliaria crystallina) and red (miliaria rubra). Benign. * Ebstein pearls are commonly seen in the mouth (mucous membranes) along the midline, just a collection of stratified epithelium and tends to go away. Do not confuse with torus palatinus, an actual deformity of the hard palate where it curves down. That is permanent and can be covered by mucous membrane, cause no issues. * Cutis marmorata looks like cobblestone blood-vessels. Can occur when the baby is cold. It is secondary to vasomotor instability. As they get older, it gets better. Cutis marmorata telangiectasia congenita does not go away as the child gets older. Cutis marmorata sometimes seen in Down syndrome. * Neonatal acne (acne neonatorum) is a heightened receptor response to circulating estrogens. Usually shows around a week to two weeks. Goes away, no need to treat with acne medications. * Newborn has a flat salmon-colored lesion on the glabella, which becomes darker red when he cries. What is the best course of management? This is a salmon patch, also known as nevus flammeus. Best course of management is reassurance of parents. This goes away as the child gets older. Nevus simplex is also known as “stork bite.” * Salmon patch seen over the eyelids, bridge of the nose, and back of the neck. Also known as a “stork bite” (on the neck) or “angel kisses” (on the forehead/nose). * Nevus flammeus divided into salmon patch (goes away) and port-wine stain (does not go away, hemangioma, associated with Sturge-Weber syndrome. 50% of babies are born with salmon patch. Facial lesions tend to go away, neck lesions may stay but are covered with hair. * Capillary hemangioma, also known as strawberry hemangioma usually starts as flat macular lesion. May get larger during first few months of age, raised lesion. After first year of life, they tend to regress slowly. In general, there is no need to go cut them out as this results in bleeding since they are a collection of blood vessels. No need to do laser treatment either. Only do treatment if the lesion is over a vital structure. * Baby presents with capillary hemangioma on the skin and stridor. Think about subglotic hemangioma. * As capillary hemangiomas get better, they start to turn bluish and get boggy like an abscess. * Nevus sebaceous (nevus of Jadassohn) is present at birth. It is salmon fleshy colored and there will be no hair growth coming through the lesion. They are only seen on the scalp. Treatment is to follow until adolescent age and then remove. There is some minor risk of malignancy, so remove after child is no longer growing. * Café-au-lait are light-brown in color (coffee with milk) and also known as “giraffe spots.” They may or may not be associated with underlying diseases (neurofibromatosis, McCune Albright syndrome, Von Hipple Lindau). * Harlequin baby will have redder skin closer to the ground/gravity. This is due to vasomotor instability. -------------------------------------------------------------------------------------------------------------------------------------------Birth Trauma * Cephalhematoma is a collection of fluid underneath the bone. Must be differentiated from caput hematoma. A cephalhematoma is a subperiosteal bleed, since it is beneath the bone it is limited by the bone, thus it will not cross the suture lines. A caput is a scalp swelling so it does cross suture lines. * Cephalhematomas tend to get worse over a few days and can take weeks to months to resolve. As the resolve, you can feel the volcano rim or crater, which is the edge of the cephalhematoma. Even if they are bilateral, they will not cross the suture line so you should be able to feel a groove in between the hematomas. * Caput hematomas starts to get better as soon as the baby is delivered. * Differential diagnosis of a cephalhematoma includes a depressed skull fracture. * Subcutaneous fat necrosis is a type of birth injury. Associated with birth trauma or forceps use. Will be firm rubbery nodules, can be seen anywhere like cheeks, buttocks, back, extremities. * Brachial palsies occur with stretching of the brachial plexus, such as forceps or arm pulling. * Erb-Duchenne palsy involves C5-C6 and arm will be internally rotated, wrist flexed, “waiter’s tip” or “secret smoker.” Ipsilateral hemi-diaphragmatic paralysis means C4 is also affected.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Klumpke palsy involves C8-T1 and hand will have fingers flexed, “claw hand.” If sympathetic fibers of T1 are affected the child may have a Horner syndrome. Horner is anhidrosis, ptosis, myosis. Horner is a guy whose forehead is dry, can’t see the sky, and has a small eye. * Facial palsy will have no ipsilateral movement with crying. These palsies tend to be fairly mild and resolve. * Clavicle is the most commonly fractures bone during delivery. Babies tend to be large for gestational age, such as when the mother has gestational diabetes. Shoulder dystocia during delivery predisposes to fracture. Baby may not move their arm well or has an asymmetric Moro response or mother notices a lump (callous already forming). For the most part, these fix themselves, no need to splint in a figure-of-eight. May feel crepitus on affected side. * Subconjunctival hemorrhages are temporary. You see blood in the eye, due to birth pressure. -------------------------------------------------------------------------------------------------------------------------------------------Congenital Anomalies * Coloboma is a defect in the iris, may look like a keyhole, also known as “latch key eye”. Can have a coloboma of the eyelid, choroid, or retina. * Aniridia is lack of iris, usually bilateral. Baby will not have a colored part of the eye. Aniridia plus hemihypertrophy is associated with Wilms tumor. * Congenital cataract will have no red-reflex on the affected side. Eye appears cloudy, there is an opacity in the lens. Baby may be born with cataract or be developing it due to something like galactosemia. * White reflex implies retinoblastoma until proven otherwise. Red reflex and be red or orange or tan. * Pre-auricular skin tags are generally a normal variant. There is a slightly higher association with cleft lip/palate. * Pre-auricular dimple or pit is a normal variant. There is a slightly higher association with hearing abnormalities. * Microtia is grossly malformed misshapen ears. Much higher association with renal abnormalities (e.g. Potter). * Macroglosia is huge tongue, can obstruct the airway and cause feeding difficulties. Can be seen in Down syndrome, Beckwith-Wiedemann Syndrome, or a normal variant. * Ankyloglossia also known as “tongue tie” at the bottom of the tongue. Generally no need to intervene. Do not snip the attachment as there is an artery that runs through this area. If baby can get tongue to edge of gums (most can) they will be able to nurse well and speak well. * Branchial cleft cysts are generally unilateral and can become infected, drain, require antibiotics, and sometimes need to be closed or removed. * Congenital torticollis also known as “wry neck” is balling-up of sternocleidomastoid. Child will keep its head to the side. You may be able to feel a knot on that side of the neck. Treat with passive range of motion, moving head to opposite side. Some torticollis patients may have a hemi-vertebra in the neck associated with certain syndromes. * Breast hypertrophy is due to heightened response of receptors to circulating hormones. It goes away as the baby gets older. There may even be discharge from the breast. * Supernumerary nipples (polythelia) will be anywhere along the mammary “milk” lines. There is an association with renal and cardiovascular anomalies. Most people with polythelia do not have problems though. * Poland syndrome is absence of the pectoralis muscle with amastia on that side, can have rib deformities, webbed fingers, and radial nerve aplasia. * Pectus excavatum also known as “funnel chest” and pectus carinatum also known as “pigeons chest”. These are normal variants and should be left alone. Very rarely do they cause cardiac problems, such as cor pulmonale from pectus excavatum. Most common reason for having them fixed is cosmetic. * Polycystic kidney is the most commonly palpated mass in the abdomen of a neonate. Next most common is likely a large bladder, maybe secondary to posterior urethral valves. * Umbilical hernias are commonly seen. This is incomplete closure of the fascia umbilical ring. Old school myth was to put a large coin on it and tape it down. Treatment is to leave it alone. After about a year, they will have closed either way (coin taping or leaving it alone). Nearly all close by age 5. * Omphalocele is due to embryologic development. Intestines come out in-utero, do 270-degree flip, and come back in. In omphalocele, the intestines did not come back in. There is a sac “-cele” with this deformity. This is a midline defect and is a surgical emergency. Generally, this is diagnosed on ultrasound so the surgical team is ready at birth. * Gastroschisis does not have a sac. This is usually to the right of the umbilicus. Since it is not contained, there is a much higher risk for volvulus and malrotation. More likely to have ischemia. Surgical emergency. * Imperforate anus can occur. Never take a newborn’s temperature with a rectal thermometer as this could perforate the anus. Symptoms include no defecation within the first 24 hours of life. * Epispadias is urethral meatus opening on the dorsum of the penis. Hypospadias is on the ventral side. Right below the tip of the glans is a first-degree, along the shaft is a second-degree, and at the base of the shaft is third-degree hypospadias. Usually there is a hooded prepuce seen in hypospadias or isolated chordee. Hypospadias is a contraindication for circumcision as all the tissue will be needed for the repair.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Retractile testicle means there is an active cremasteric reflex, where testicle slides up with touching or cold temperature. Undescended testicle means it is not palpable or is palpable in the inguinal canal but cannot be brought down. If it is undescended at one year of age, it has to be surgically brought down as there is a higher risk of malignancy and will become atrophic. * Ebstein pearls can also occur on the penis; anywhere with mucous membranes. * Hydrocele suspected with enlarged scrotum. Can be transilluminated. Hernias reduce, hydroceles do not. * Syndactyly is when fingers do not separate in development. X-ray to determine if 1 or 2 fingers. If 2 fingers, surgery may be considered. * Polydactyly is extra fingers. If there is a well developed bone with vascular supply, consider leaving finger. If no bone present in extra finger or just a stalk, tie-off with a suture and it will auto-amputate. * Amniotic band occurs when there is a little tear in the amnion in-utero and the baby gets it’s finger through. When the amnion heals up, it compresses and creates a band. Could cause phocomelia where entire arm is deformed. -------------------------------------------------------------------------------------------------------------------------------------------Neonatal Screening Tests * One-month old fair-haired fair-skinned baby presents with projectile vomiting of 4-days duration. Physical exam reveals a baby with eczema and a musty (mousy) odor. Which screening test would most likely be abnormal? This baby presents similar to pyloric stenosis. This is phenylketonuria (PKU). * Major three for screening are PKU, galactosemia, hypothyroidism. Some places will test for maple syrup urine disease or sickle cell anemia. * PKU is a defect in the hydroxylation of phenylalanine to tyrosine. It is autosomal recessive. What are the chances that this family will have another affected child? Answer is 1 in 4. Occurs in about 1:10,000 live births. * In PKU, babies are normal at birth. Mental retardation is the most common manifestation. Commonly seen in fairhaired, fair-skinned, blue-eyed population. Rash looking like atopic dermatitis or eczema may be present. * Screening test for PKU is best done at 48-72 hours after starting to take in protein. * If positive PKU screening test, then do blood levels of phenylalanine (high) and tyrosine (normal levels). * Treatment for PKU is dietary, low phenylalanine formula and then low phenylalanine diet. Avoid things like aspartame (sugar substitute), which is common in diet drinks. * Complications include mental retardation, microcephaly, and congenital heart disease. * Galactosemia is a defect in galactose-1-phosphate-uridyltransferase. Patients are unable to metabolize galactose and the levels will accumulate in the kidney, liver, and brain. It is autosomal recessive. * Duarte variant of galactosemia is asymptomatic, no clinical significance. * Babies will have a variety of symptoms including vomiting, jaundice, hypoglycemia, seizures, cataracts (due to galactitol in lens), enlarged liver or spleen, gain weight poorly, high risk of E. coli sepsis. * Treatment is to eliminate galactose from the diet. One of the few contraindications to breast feeding, should use soy formula. Although they are treated, babies tend not to do as well, may have developmental delay or speech and learning problems. -------------------------------------------------------------------------------------------------------------------------------------------Maternal Diabetes * You are called to see a 9.5lb newborn infant who is jittery. Physical exam reveals a large plethoric (red, ruddy) baby who is tremulous. A murmur is heard. Blood sugar is low. This is a baby born to a mother with diabetes or who developed gestational diabetes. * Babies tend to be macrosomic (big baby). Babies tend to develop hypoglycemia because they have high circulating levels of sugar in-utero so the baby overproduces insulin. Once born, the increased insulin and lack of maternal sugar leads to hypoglycemia. Insulin works as a growth hormone, so not only is the baby getting lots of calories it is hormonally enhanced in size. * Since they are large for gestational age, they can get birth trauma such as broken clavicle or shoulder dystocia. * Along with hypoglycemia, they can get hypocalcemia and hypomagnesemia. Sometimes they will have respiratory distress syndrome because insulin can block surfactant production. * Infants of diabetic mothers are at higher risk for hypertrophic cardiomyopathy. In general, they will get better over time, by about 6 months of age. * Infants can get hyperbilirubinemia and polycythemia. At higher risk for other congenital anomalies like ventricular septal defects, atrial septal defects, and transposition of the great arteries. At higher risk for lumbosacral agenesis and specifically small or lazy left colon, which can appear like Hirschsprung or meconium ileus. * Treatment is to control mother’s blood sugar while fetus is in-utero. After birth monitor the babies and treat hypoglycemia until they adjust their insulin levels. * Complications include diabetes and obesity development as children.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

-------------------------------------------------------------------------------------------------------------------------------------------Size For Gestational Age * Most scales to determine if child is appropriate for age include a physical scale and neuromaturation scale. * Ballard scale (Dubowitz is another), looks at muscular maturity, posture, skin, lanugo, plantar creases, breast development, ear stiffness, genitalia, etc.. Repeat exam 24 hours later, helps compensate for things like depressant medications taken by mother. Premature babies will have floppy ears because stiff cartilage has not developed. * Small for gestational age does not matter if baby is pre-term, term, or post-term. Only says if the size is appropriate for that particular gestational age. * Shiny skin in a baby implies little subcutaneous tissue, so there was not enough time to develop the tissue. * Labia majora being wide and not covering labia minora is also a sign of prematurity. * As male gets to term, scrotum gets darker, more wrinkles, and testes descend into scrotum. * Lots of lanugo hair implies pre-term. * Flexion a both hips and knees is a good sign. Arm flexion as well. Lusty cry is good. * Most babies start to peel at two-weeks of age. No need to put lotion on it, leave skin alone. A post-term baby may have peeling at birth and longer nails. * Term infant weights 4lbs at birth. Physical exam reveals a small infant with a disproportionally large head. The mother has a history of smoking during pregnancy (risk of prematurity, IUGR). This baby is small for gestational age, intrauterine growth restriction (IUGR). Small for gestational age is below the third percentile for that particular gestational age. * Symmetric means the baby is the same proportions. Asymmetric is when the head is bigger than the body, these babies have a better prognosis. It implies that the brain has been spared. * IUGR is associated with any factors that decrease oxygenation to fetus including chromosomes, TORCH infections, congenital anomalies, irradiation, insulin deficiency. Placental factors include small placenta, infracted placenta, partial abruption, twin to twin transfusion. Maternal factors include toxemia of pregnancy, hypertension, malnutrition, tobacco use, narcotic use, alcohol use. * Ballard scoring helps to determine gestational age, then weight and plot out baby. * IUGR babies are at higher risk of cold stress (not enough fat) and hypoglycemia (no glycogen stores). * Small for gestational age (SGA) babies at risk for polycythemia because they have more hypoxia and produce more hemoglobin and cells. -------------------------------------------------------------------------------------------------------------------------------------------Neonatal Drug Withdrawal * A two day old infant is noticed to have course jitters and is very irritable, with a high-pitched cry. A low grade fever is reported as well as diarrhea. Maternal history is positive for heroin use. * Moms will say “as soon as I heard I was pregnant I quit doing drugs.” Do not believe them, drug test. * Most common elicit drugs that a baby goes through withdrawal from are narcotics and cocaine. * You can urine drug screen the baby as well. * Heroin has a shorter half-life than methadone so the babies will withdraw sooner. Heroin a couple of days, methadone a couple of weeks. * Hyperactivity, irritability, fever, diarrhea (classic), fussy baby, inconsolable, always sucking, think withdrawal. * Phenobarbital takes a couple of weeks for withdrawal symptoms. * Treatment is put child in long acing narcotics (e.g. methadone) and slowly wean baby. Minimize stimulus, swaddle baby, wrap up baby they like to be held tightly and closely. * Complications of neonatal drug withdrawal is low birth weights, higher risk for anomalies, higher risk for sudden infant death syndrome, and higher risk for mother’s complications of drug use (e.g. hepatitis, HIV). -------------------------------------------------------------------------------------------------------------------------------------------Respiratory Diseases * Shortly after birth, a 33 week gestation infant develops tachypnea, nasal flaring, grunting, and requires intubation. Chest radiograph shows a hazy ground-glass appearance of the lungs. Suspect respiratory distress syndrome (RDS). This is secondary to surfactant deficiency, seen almost exclusively in preterm babies. * Surfactant decreases surface tension, preventing alveoli from collapsing. So lack of surfactant causes alveoli to collapse leading to atelectasis. The atelectasis leads to the ground-glass haziness. * Blood gases will be poor due to ventilation-perfusion mismatch caused by the atelectasis. * Valsalva maneuver increases pressure in the chest and helps to keep alveoli open. When child needs to let out the air to breath in, they will grunt. * Usually it takes about three days for child to get better. One of the first signs of improvement is dieresis. No real diagnostic test for RDS, more of a clinical diagnosis with help from the x-ray. Aside from the poorly demarcated

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Study Notes – Pediatrics

James Lamberg

28Jul2010

heart border and haziness, there may be air bronchograms. * Treatment of RDS starts with prevention, getting baby to term and giving mother steroids to help mature the babies lungs. Can treat newborn with surfactant, ventilate if needed, give fluids if needed, antibiotics if needed. * Complications include pneumothorax, plugging, intraventricular hemorrhages, sepsis, pulmonary interstitial emphysema, chronic lung disease (bronchopulmonary dysplasia). * Transient tachypnea of the newborn (TTN), similar to RDS symptoms but with a term baby. Associated with a rapid second stage of labor or Cesarean section as baby does not get the birth squeeze that helps production of surfactant. Baby will have tachypnea, may require a little oxygen, fairly clear x-ray, tends to go away in a few days. * Meconium aspiration syndrome has symptoms of respiratory distress but with history of meconium-stained amniotic fluid. Seen in term babies. Rupture membranes with meconium is a clue, meconium under the baby’s fingernails or around the umbilicus is another clue. CXR is typical of aspiration pneumonia. Meconium is like thick pudding, supposedly sterile but can cause pneumonitis and air-trapping if it get into the lungs. * Air-trapping in the lungs leads to hypoxia. This causes vasodilation everywhere in the body except the lungs. In the lungs, hypoxia causes vasoconstriction, leading to shunting. In newborn, the shunting goes through a patent ductus arteriosus or foramen ovale. This causes more deoxygenated blood to go out into the body, causing more hypoxia, further vasoconstricting the pulmonary vessels, which can cause persistent fetal circulation or primary pulmonary hypertension of the newborn. * Treatment for meconium aspiration is to prevent it with good suctioning of the oropharynx once the head is delivered. New recommendations is not to intubate babies and suction them unless they are having severe respiratory problems with cyanosis. Prevention of hypoxia includes good ventilator management, pulmonary vasodilators such as nitric oxide, and sometimes extracorporeal membrane oxygenation (ECMO). * Diaphragmatic hernia and choanal atresia are uncommon causes of respiratory distress. * With respiratory symptoms, always think about the heart and worry about metabolic acidosis, hypoglycemia, hypothermia. Others include hemorrhage, edema, drugs, twin-twin transfusion, and hyperviscosity. * Diaphragmatic hernia symptoms are child with respiratory distress, scaphoid abdomen (flat or sunken), bowel sounds in the chest, x-ray showing gastric air bubble or bowel above the diaphragm. * Treatment for diaphragmatic hernia in infant is surgical. Once surgery is completed, problem is that the affected side (almost always left) is not very well developed, pulmonary hypoplasia. Shift of thoracic contents to the contralateral side (right) leads to poor development of that lung as well. -------------------------------------------------------------------------------------------------------------------------------------------Jaundice In The Newborn * Indirect bilirubin is 11.2, direct is 0.4, physical exam is unremarkable except visible jaundice. * Neonatal jaundice occurs when indirect bilirubin is deposited in the skin. Hyperbilirubinemia is physiologic or pathologic. Bilirubin is described as conjugated (direct) or unconjugated (indirect). * Physiologic jaundice is high unconjugated. * Major source of bilirubin is hemoglobin, also myoglobin and cytochome-oxidase system. * Infants who are hypoxic in-utero will make more hemoglobin, so when born they may have hemoglobins if 18 or 19, higher circulating red blood cell volumes, shorter lasting red cells (60-90 days). As these RBCs die off there is a load of hemoglobin released, immature liver cannot handle this so it gets stored in the skin. * Physiologic jaundice is jaundice that does not present in the first day of life, does not go high (max 12.9-15), peaks around the 3-5 day mark, goes away about 7-10 days. Preterm babies are given 10-14 days to resolve physiologic jaundice. No treatment needed * Breast milk jaundice usually presents by one-week of age, non-esterified fatty acids displace the bilirubin from the albumin molecule leading to yellow baby, no treatment needed. * Babies with conjugated hyperbilirubinemia and clay-colored acholic stools, suspect biliary atresia. * Work-up jaundice by getting bilirubin level with conjugated and unconjugated, hemoglobin, and blood type of both baby and mother. * Phototherapy is good for unconjugated hyperbilirubinemia, photoisomerizes it to a form that is easier to metabolize. Do not put a baby with direct (conjugated) hyperbilirubinemia under light therapy or they will get bronze baby syndrome. * Exchange transfusions can be used if child is still hemolyzing after light therapy, usually for Rh incompatibility. * ABO incompatibility is more common than Rh, but it is milder. Rh incompatibility is preventable by giving mother Rh immune globulin (RhoGAM). * Genetic disorders causing jaundice include spherocytosis, G6PD, pyruvate kinase defect, hemoglobinopathies (thalassemias), galactosemia. * G6PD usually presents later, once exposed to oxidizing agent, fava beans, antimalarials, dapsone, moth balls.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Jaundice can come from extravascular blood such as petechiae, hematoma, pulmonary or cerebral hemorrhages, and swallowed blood. Example would be facial bruising during a difficult delivery, like face to pubis presentation. * Jaundice can come from polycythema such as maternal-fetal transfusion, twin-to-twin-transfusion, or placental transfusion (cord stripping toward baby). * Mechanical obstructions can cause jaundice, such as atresia, stenosis, Hirschsprung, meconium ileus, meconium plug syndrome. * Under-secretion jaundice with Gilbert syndrome, Crigler-Najjar syndrome. * Other jaundice causes are TORCH infections, hepatitis, prematurity, infants of diabetic mothers. * In twin-to-twin-transfusion, larger baby has higher risk for jaundice and higher risk for problems. * Phototherapy can cause some diarrhea, but that’s alright cause they’re removing the bilirubin. * Double volumes transfusions help to remove circulating antibodies, remove bilirubin, and increase hemoglobin. * Erythroblastosis fetalis (hydrops fetalis) occurs with hemolysis in-utero, low hemoglobin high output failure, causing anasarca and death. -------------------------------------------------------------------------------------------------------------------------------------------Neonatal Sepsis * A 3week old infant presents with irritability, poor feeding, temperature of 102F, and grunting. Physical exam reveals a bulging fontanelle and delayed capillary reflex. * Sepsis is a systemic response to infection. Divided in newborns into early onset and late onset. Early onset is within the first 7 days of life. Late onset is 8-28days of life. * Neonatal sepsis risk factors include maternal infection, prematurity, prolonged rupture of membranes. * Most common bacterial cause of neonatal sepsis is group B strep (GBS). E. coli and listeria are distant second and third. Initial choice of antibiotics covers all three. * Viral causes of neonatal sepsis include herpes simplex and enteroviruses. * Signs and symptoms are non-specific, grunting, fussiness, poor feeding, tachypnea, respiratory distress, apnea. * Newborns do not always have fever. Sometimes they will present with hypothermia or temperature instability. * Neonates with fontanels usually do not present with nuchal rigidity as the pressure can go to the fontanelle, causing it to be fuller/bulging. * Work-up includes CBC, lumbar puncture to rule out meningitis, blood culture, urine culture, skin lesion culture, chest x-ray to rule out pneumonia. * Treatment is antibiotics (ampicillin + 3rd generation cephalosporin), fluid management, attention to details. * Antibiotic choice could also be ampicillin + aminoglycoside. Worry with aminoglycoside about nephrotoxicity and ototoxicity. Follow aminoglycoside levels and do hearing screens later on. * Penicillin or ampicillin given to mother at least 4 hours prior to delivery will reduce the risk of neonatal sepsis from group B streptococcus. * Differential includes respiratory diseases, metabolic diseases, intracranial hemorrhage, TORCH infections. -------------------------------------------------------------------------------------------------------------------------------------------Transplacental Infections * TORCH: Toxoplasmosis, Other (syphilis, varicella), Rubella, Cytomegalovirus, Herpes simplex virus. * Majority of TORCH infections occur when mother is in the first or second trimester. * Toxoplasmosis is transmitted by ingesting undercooked or raw infected meat. It is also found in cat feces, infection transmitted from handling used kitty litter. * Toxoplasmosis can be mild in the adult, but the problem is when the baby catches it via the mother. * Signs include intracranial calcifications, 40% infection rate if during 1st or 2nd trimester, IUGR, microcephaly, spasticity, seizures, blindness, retinitis, hepatosplenomegaly (HSM). * Diagnosis is via isolation from placenta or cord blood, TORCH IgM titers, IgM ELISA. Toxoplasmosis immunosorbent agglutination assay can be used. * Treatment of toxo during pregnancy is spiramycin or pyrimethamine + sulfonamide. Postnatal (baby) treatment is pyrimethamine + sulfadiazine + leucovorin for six months. Leucovorin decreased the problems with bone marrow suppression seen in chronic sulfa drug use. Steroids for chorioretinitis. * Cytomegalovirus (CMV) is the most common congenital, 40% transmission to baby. * Symptoms include SGA, petechiae, HSM, thrombocytopenia, direct hyperbiliribunemia. * Culture urine, blood, CSF, throat, placenta. Look for periventricular calcifications (in brain). * CMV causes chorioretinitis as well. Calcification around periventricular area. “V” in CMV and ventricular. * No treatment for CMV, usually babies do not do well, get mental retardation, microcephaly, liver problems. * Varicella (chickenpox) is divided into neonatal (delivered within a week before or after maternal disease onset) and congenital.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Neonatal treated with varicella zoster immune globulin (VZIg), if the mother develops the disease 5 days before to 2 days after delivery. Give acyclovir as well. This is more serious because the mother has not developed antibodies. * Congenital varicella associated with limb-hypoplasia, scaring, microcephaly, chorioretinitis. Give acyclovir. * Rubella has an 80% transfer rate if mother is infected in first trimester. * Rubella clinically causes mental retardation, microcephaly, heart defects (PDA, pulmonary stenosis), cataracts, HSM, thrombocytopenia, deftness, “blueberry muffin” baby. * Blueberry muffin due to purpuric lesions from thrombocytopenia, add jaundice and it looks like the muffin. * Diagnose via IgM titers for rubella. Prevention is to immunize mother prior to pregnancy. Anyone born after 1957 should receive a second MMR vaccination. * Herpes simplex is acquired during passage through the birth canal. C-section not 100% for preventing HSV. * Primary disease is when the mother gets the disease for the first time, so no antibodies, thus lots of transmission to the baby. With recurrent genital herpes there is low transmission rates. * Delivery can be vaginal if culture is negative and no lesions seen. Do C-section if any lesions or PROM. * Local HSV is present at 5-14 days on skin, eyes, mouth (SEM). Disseminated HSV presents at 5-7 days with pneumonia, shock, hepatitis. CNS HSV presents at 3-4 weeks with lethargy, seizures, instability. * If the CSF tap comes back “clean” but HSV symptoms, the tap is not clean. Think HSV. * SEM (local) HSV has about a 95% chance of normal development. Disseminated is about 60%. CNS is about 35%, with only 5% if seizures present. Mortality is high with disseminated especially with pneumonitis. * Treatment of HSV is with acyclovir. * Syphilis is divided into early (first 2 years of life) or late manifestations. * Symptoms of early syphilis are fever, anemia, FTT, maculopapular rash, snuffles (runny nose), HSM. * If you’re suspecting syphilis and baby has glistening snuffles below nose, that’s not boogers, that’s treponems, you better put on a glove. That’ll be hard to explain, how you got syphilis from a baby. * Late stage manifestations include periostitis, saber (shaped) shins, Hutchinson (notched) teeth, saddle nose, rhagades (linear scars at angle of mouth), Clutton joints (symmetric joint swelling), Jarisch-Herxheimer reaction (fever and rash with penicillin, systemic reaction to treponems being killed). * Diagnosis with RPR and FTA-ABS. Dark field microscopy can be done too. -------------------------------------------------------------------------------------------------------------------------------------------Gastrointestinal * A newborn is noted to have choking and gagging with its first feed, then develops respiratory distress. Chest x-ray shows an aspiration pneumonia and a feeding tube coiled in the esophagus. This is a tracheoesophageal fistula (TEF). There are various kinds, most common is esophagus into a blind pouch and a fistula into the trachea distally. * TEF associated with prenatal history of polyhydramnios. * Diagnosis is clinical. Treatment is surgical repair. * Look for other abnormalities, such as congenital heart disease such as a PDA, vascular rings, coarctation. Look for vertebral anomalies, anal-rectal anomalies, renal issues. Mainly look at the heart. * Double-bubble sign seen in duodenal atresia. History will be bilious vomiting. Higher association with Down syndrome. * Hirschsprung disease (also called congenital aganglionic megacolon) should be suspected in any newborn that has not passed stool in the first 24-48 hours. Also consider imperforate anus, meconium plug, and meconium ileus. On barium enema, the enlarged area is normal. The thing area is where the problem is, stool backs up proximally. * Gold standard (best test) for diagnosis for Hirschsprung disease is colon biopsy looking for aganglionic area. * Necrotizing enterocolitis (NEC) is the most common medical and surgical GI emergency of the newborn. Look for a history of a preterm infant and perinatal asphyxia (low APGAR scores). As baby gets fed, they get bloody stools or starts to get distended, lethargic. * Most appropriate test is an abdominal film, looking for pneumatosis intestinalis. Pneumatosis intestinalis is air inside the bowel wall (not just in the bowel lumen). Air inside the bowel wall implies NEC. * Treatment for NEC is bowel rest, antibiotics, and sometimes surgery to remove parts of bowel if it gets necrotic. -------------------------------------------------------------------------------------------------------------------------------------------Neonatal Seizures * In the newborn intensive care unit (NICU), a newborn is noted to have sucking movements, tongue thrusting, and brief apneic spells. The blood counts and chemistries are normal. * Neonatal seizures do not generally presents with tonic/clonic seizures like they do in older adults. * Causes of neonatal seizures include hypoxic ischemic encephalopathy (most common). Seizures typically present at 12-24 hours after birth. * Intraventricular hemorrhage usually presents with seizures after 24hours. Think respiratory distress syndrome or

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Study Notes – Pediatrics

James Lamberg

28Jul2010

prematurity as cause of intraventricular hemorrhage. * With intraventricular hemorrhage, may see bulging fontanelle or bloody spinal that that does not clot. Clotting would imply a traumatic tap, not clotting would imply intraventricular hemorrhage. * Ultrasound or CT scan of head for diagnosis. * In seizures, always check metabolic causes. Always check a blood sugar. Hypoglycemia can cause seizures and is easily correctable. Hypocalcemia can also cause seizures. * Focal seizures present with rhythmic twitching, usually of the face and extremities. Multifocal clonic involves many muscle groups. Tonic (stiff) and clonic (jerking). * Subtle seizures present with tongue thrusting and apneic spells. This is more common in newborns than say a tonic-clonic seizure. * Diagnostic tests for seizures include blood sugar, electrolytes, EEG, CT or ultrasound of head, lumbar puncture. -------------------------------------------------------------------------------------------------------------------------------------------Teratogens * Any female of childbearing age who is going to go on isotretinoin for their acne must get a pregnancy test and to be told not to get pregnant. Can cause facial and ear anomalies, congenital heart disease. * Phenytoin can cause characteristic facies, hypoplastic nails, “Cupid’s bow” mouth. * Thalidomide causes limb abnormalities. * Tetracycline causes enamel hyperplasia and teeth discoloration. -------------------------------------------------------------------------------------------------------------------------------------------Newborn Resuscitation * You are called to attend the delivery of a 22yo G1P0. She has been followed in the prenatal clinic and all cultures are negative. The patient is term and meconium is visualized. * Newborn’s past medical history is the mom’s history. Ask about medications the mother is taking. Ask how many babies are being born. * Resuscitation in the neonate includes twin gestation, prematurity, and meconium. * In children who need resuscitation, it is usually caused by accidents or illnesses particularly respiratory disease. The majority of codes in children are respiratory in nature, ensure airway management. * 1996 JAMA article Cardiopulmonary Resuscitation on Television - Miracles and Misinformation portrays successful resuscitation in the majority of cases. This type of information can lead the general public to believe resuscitation is far more successful than it really is (majority die if resuscitation efforts are needed). * Hypotension is a bad sign. This implies compensatory mechanisms (e.g. catecholamines) have been used up. * In children, the younger you are the faster your heart rate and respiratory rate. * Treatment is ABC: airway, breathing, circulation. Temperature is important also. * Airway: is the airway patent? Do I need to intubate? * Breathing: are the retractions, grunting, nasal flaring? * Circulation: heart rate? Blood pressure? Skin color? Urine output? Capillary refill? * Newborn intubation blade is 0 or 1 (Miller). Endotracheal tube (ETT) about size 3. ETT = (age + 16) / 4. In children under 8-years of age, it is recommended that an uncuffed ETT be used. * Do not do Heimlich maneuver on children under age 1, do back slaps. No blind finger sweeps on anybody. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Growth & Development with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Breastfeeding * A nursing mother asks if her 3 month old baby requires any vitamin supplementation. Answer is no. What about fluoride, vitamin D, iron? Not yet. * Age 0-12 months is 100kcal/kg/day, 2.5-3gm/kg/day protein. * Age 1-7 years is 75-90kcal/kg/day, 1.5-2.5gm/kg/day protein. * Age 7-12 years is 60-75kcal/kg/day, 1.5-2.5gm/kg/day protein. * Age 12+ years is 30-60kcal/kg/day, 1-1.5gm/kg/day protein. * “Breast is best,” human breast milk is the best a baby can have. Recommended that it be used exclusively for up to six months. Breast milk plus baby foods up to a year of age. After 1 year, tend to go off breast milk to whole milk. * Advantages of breast milk include convenience (pre-mixed, right temperature), no sterilization required, maternalinfant bonding, less frequent hospitalizations, possible increase in IQ, optimal absorption of nutrients/vitamins/trace elements, possible protection from allergen exposure, much less obesity risk. * Breast milk has IgA, lactoglobulins, maternal macrophages. Less risk of URIs and otitis media. * Breast feeding is not a contraceptive method (myth). It does allow mother to return to preconception weight faster

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Study Notes – Pediatrics

James Lamberg

28Jul2010

as mother is losing an additional 500 calories a day by nursing. Uterus regresses to normal size faster (oxytocin). * Part of newborn care is administering vitamin K (1mg IM) to prevent hemorrhagic disease of the newborn. Vitamin K is made in the gut with the help of bacteria, which newborns do no have. * Vitamin K is present is breast milk. Fluoride is recommended after 6 months of age. Fluoride is also recommended if you are using ready-to-feed formula. If you are mixing formula with water, you have to know what the local water supply contains (fluoride or not). Vitamin D to baby only if mother does not have adequate vitamin D intake, example would be cultures that are fully clothed and do not get enough sun exposure for vitamin D conversion. Iron fortified foods given at 4-6 months of age. * Few contraindications to breast feeding, such as active TB, syphilis, HIV, varicella, galactosemia, herpes if active lesions on the breast. * Drug affecting breastfeeding include atropine, anticoagulants (heparin safe), antithyroid drugs, antimetabolites, cathartics (except senna), dihydrotachysterol, iodides, narcotics, radioactive preparations, bromides, ergot, tetracyclines, metronidazole, antineoplastics, alkaloids, chloramphenicol, cyclosporin, nicotine, alcohol, steroids, diuretics, oral contraceptives, nalidixic acid, sulfonamides, lithium, reserpine, diphenylhydantoin, barbiturates. * Absolute drug contraindications to breastfeeding include antineoplastics (chemo), alkaloids, chloramphenicol, cyclosporin, nicotine, alcohol, lithium, radiopharmaceuticals (iodine), atropine. * Relative drug contraindications to breastfeeding include seizure medications, neuroleptics, sedatives, tranquilizers, metronidazole, tetracycline, sulfa, steroids. * Mastitis is not a contraindication to nursing. Breastfeeding during mastitis helps mother recover quicker. Mother can take antibiotic and still nurse. -------------------------------------------------------------------------------------------------------------------------------------------Formula Feeding * Formula feeding is used as a substitute or as a supplement. A majority of formulas are cow’s milk based and are adjusted to be as close to breast milk as possible. * Common formula is 20 calories per ounce. * Human milk is 1.2g/dL protein (7% calories), 4g/dL fat (54% calories), 6.8g/dL carbohydrates (40% calories). * Soy formula is 1.5g/dL protein (9% calories), 3.8g/dL fat (50% calories), 6.9g/dL carbohydrates (41% calories). * Whole milk is 3.3g/dL protein (20% calories), 3.7g/dL fat (50% calories), 4.9g/dL carbohydrates (30% calories). * Whole cow’s milk is good for baby cows or anyone over 1 year of age. Higher risk for allergies, GI blood loss, and anemia if started early. Iron is not absorbed well and they get GI blood loss. * 13mo comes in with a hemoglobin of 6. Mother has been using cow’s milk since 4mo. That’s the cause. * Whole cow’s milk has a high solute load on the kidney. 87mEq/mL in human, 227mEq/mL in cow’s. * Vitamin D is recommended if the formula does not have it, but just get out in the sun and you’ll be fine. * Goat’s milk must be supplemented with folic acid. * If poor iron intake, foods contain iron and are started at 6 weeks. * Solids should be introduced at about 4-6 months of age. Baby can hold its head up, suck-swallow mechanism is better, lower risk of allergies. Start a new solid one at a time, one per week to determine if they like it and allergies. * A mother states that her infant is having episodes of inconsolable crying every night for the past 5 nights. He draws his legs up and his abdomen becomes rigid. The episodes resolve as quickly as they come on and the rest of the day he acts normally. No diagnostic tests for colic. * Usually colic starts about 3 weeks of age and lasts to 3 months of age, no one really understands it, cramping thing that happens, babies cry then swallow air and get more cramping, pass gas, draw their legs up. * Generally, rhythmic motions help for colic. Patting the baby, bouncing the baby, car rides. Sometimes you can use anti-gas medications like simethicone. Typically occurs at the same time of night. * Differential for colic includes intussusception, hernias, strangulated hair (e.g. mother’s hair around toe). * A 3yo boy is seen for chronic illness. He appears edematous and apathetic with thin hair. Generalized dermatitis is noted. Sparse hair and decreased muscle tone is noted. This is kwashiorkor, protein-calorie malnutrition. * Vitamin deficiencies are often associated with kwashiorkor. Usually it occurs after they wean from the breast because they aren’t getting the nutrition they need, seen in poor societies. * Edema is due to protein loss, thus loss of oncotic pressure in abdomen. Decreased serum albumin, decreased blood glucose, decreased essential amino acids. Mortality can reach 30-40%. * Treatment of kwashiorkor is slow feeding, replacing quickly can make things worse, plus give vitamins. * Vitamin A deficiency causes night blindness. Thiamin deficiency leads to beri beri. Niacin deficiency leads to pellagra. * No honey is recommended in the first year of life due to risk of infantile botulism. * Botulism presents as a descending paralysis (versus Guillain-Barre which is ascending).

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Infantile botulism is due to the spores themselves. In adults, botulism is due to the toxin. -------------------------------------------------------------------------------------------------------------------------------------------Growth, Disorders of Height, & Disorders of Weight * A father is concerned that their 13yo son is short. The child has been very healthy, is below the 5th percentile for height and has been his whole life. Physical exam is normal. Father is 6’3”, mother is 5’10”. Father was a “late bloomer” meaning growth spurt was later than usual. * Growth is an increase in size, form, and biologic maturation. * Growth chart shows length until they are old enough to stand, then it is height. * 2 standard deviations above 50th percentile is 97th percentile (high normal). * 2 standard deviations below 50th percentile is 3rd percentile (low normal). * A child that is short most of their early years than ends up in the normal range is constitutional growth delay. * Child that is just below the minimal for normal height but is following the curve. Father is 5’6”, mother 5’1”. The tallest person in the family is 5’7”. This is familial short stature. * A child that is 50th percentile for several years than drops to below 3rd percentile is worrisome. This could be a pituitary tumor, craniopharyngioma, Turner syndrome, or other causes of falling off the growth curve. * Pathologic short stature and constitutional short stature both start with child in normal range for height. Constitutional will eventually reach adult height, pathologic will fall off. Past family member history is important. * Physical exam may be helpful if a syndrome is involved. Any female with short stature should be evaluated for Turner syndrome (e.g. karyotype). * Labs could include CBC, urinalysis (chronic renal disease), LFTs, TFTs (hypothyroid), growth hormone. * Wrist films can tell you bone age. If patient is 12yo and short, bone age is 9yo, you know there is room for the patient to grow still. * If you suspect pituitary tumor, craniopharyngioma, do a skull film looking for an enlarged sella turcica. * Treatment is to correct the underlying disease. Growth hormone will help some patients. * Differential includes hypopituitarism, deprivational dwarfism, Turner, hypothyroidism, chronic disease. * Majority of patients who are tall are normal. Doubtful that any NBA basketball player has Marfan syndrome. * Causes of increased height include obesity, growth hormone excess (gigantism, acromegaly), androgen excess (tall as children, short as adults), hypothyroidism, homocystinuria, cerebral gigantism (Sotos syndrome), BeckwithWiedemann syndrome, Weaver-Smith syndrome, Klinefelter syndrome. * Disorders of weight include failure to thrive and obesity. * A baby weighs 16lbs at 1 year of age. His birth weight was 8lbs. Parents state that the baby feeds well. Physical exam reveals a baby with little subcutaneous fat, long dirty fingernails, impetigo, and a flat occiput. * Failure to thrive (FTT) means you are not gaining weight appropriately or losing your rate of weight gain. * FTT causes include malnutrition, malabsorption (infection, celiac disease, chronic diarrhea), allergies, immune deficiencies, chronic diseases. * Baby should double their birth weight in about 4-5 months. By 1yo, they should have tripled their birth weight. * Impetigo, flat occiput, and long dirty fingernails implies the baby is not being taken care of. Baby is not being cleaned or cared for, occiput is flat because baby is just laying their on its back all day long. * Hospitalization may be necessary to document how many calories they are getting, to teach the parents to do it appropriately, to get the family the resources they need to feed the baby. * In children who do not gain weight after these measures, consider a swear chloride test for cystic fibrosis (CF). * Obesity is a generalized over-accumulation of fat, generally due to overeating without exercise. Mother may give the baby a bottle every time it cries, so it gets use to more calories. Grandma may say “a fat baby is a healthy baby.” * Treatment is diet and exercise. * There are some syndromes associated with being overweight and obese, but they are rare. Exception to the rule. * Risk factors are parental obesity, family inactivity (T.V., video games), feeding in response to any crying, too much fruit juice in first year of life, and some syndromes. * Children present not only fat, but possibly with increased height. Boys may have increased fat tissue in the mammary region (looks like gynecomastia), abdominal striae, pubic fat pad in boys makes it look like a micropenis. * Body mass index (BMI) curve over 95% or over 30. * Complications include risk of adult obesity (with hypertension, hyperglycemia, stroke, MI), cardiovascular problems, slipped capital epiphysis, sleep apnea. * Differential includes endocrine and genetic causes, rarely. -------------------------------------------------------------------------------------------------------------------------------------------Fluids & Electrolytes * 7yo is admitted to the hospital for an elective tonsillectomy. The surgeon has asked the pediatrician to keep the

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Study Notes – Pediatrics

James Lamberg

28Jul2010

child NPO after midnight. The child weights 22kg. Calculate maintained fluid from caloric expenditures. Replace what you would normally lose during the day, urine, sweat, breathing, stool. * Electrolytes are lost in urine, about 2-3mEq/kg/day sodium, 1-2mEq/kg/day potassium. * For first 10kg in children, 100mL/kg. So 5kg child would be 500mL for day. Next 10kg start with 1L then give 50mL/kg up to 20kg. > 20kg give 1.5L then 20mL/kg for each kg over 20kg. * 22kg child would be 1500mL + 40mL is 1540mL in 24 hours. * 4-2-1 rule is 4mL/kg for first 10kg, 2mL/kg for next 10kg, and 1mL/kg after that (per hour). Quicker method for that is take weight and add 40. So 22kg child would be 62kg/hr or about 1488mL/day. * Deficit can be calculated by physical exam or recent weight. So normal 10kg child now has diarrhea and is at 9kg. You know the kid isn’t trying to lose weight, so fluid loss is 1L of fluid. * Dehydrations are isonatremic (isotonic), hypernatremic (hypertonic), and hyponatremic (hypotonic). * Amount of fluid deficit is mild (5% infant, 3% adolescent), moderate (10% infant, 6% adolescent), or severe (15% infant, 9% adolescent). Older children have less proportion of body water. * Mild dehydration would be thirsty and alert patient, no tachycardia, normal perfusion. * Moderate dehydration would be weak pulse, tachycardia, normal perfusion. * Severe dehydration would be very weak pulse, tachycardia, decreased perfusion, mottled skin. * Skin turgor and fontanelle can be used to determine degree of dehydration (tented skin, sunken fontanelle). * Always treat shock. If hypotensive, give 20mL/kg of normal saline or Lactated Ringers. * Isonatremic and hyponatremic dehydration, replace fluid deficit in 24 hours. Give half deficit in first 8 hours and rest of deficit in next 16 hours. * Hypernatrmic dehydration, do not decrease sodium too quickly else cerebral edema, replace total deficit over 48 hours. Remember to include maintenance as well and ongoing fluid loses (e.g. diarrhea, urine in DKA). * Best place to check for skin turgor is over the sternum. * Doughy feel with skin tenting seen in hypernatremic dehydration. -------------------------------------------------------------------------------------------------------------------------------------------Development & Behavior * Development is acquisition of functions. * Baby can sit up with its back straight, has started crawling, has a pincer grasp, and plays peek-a-boo. What age is most appropriate for this baby? * Development classified into neurodevelopmental, cognitive, and psychosocial. * Denver Developmental Screening Test (DDST) is a developmental screening tests. Focus on a couple things that differentiate one age group from another. There is a spectrum of normal for each milestone. * Moro reflex is when the child is stimulated by gently dropping the bassinette or the baby a few inches, baby will bring arms flexed in, draw legs up, and toes fan out like a Babinski. Present at birth, disappears at 4-6 months of age. * Grasp reflex is plantar or palmar, stimulation of hand will cause grasp. Present at birth and disappears at 4-6 months of age. * Rooting reflex is stimulation of cheek and baby will turn head and open mouth, attempting to nurse. * Trunk incurvation (Galant reflex), baby held in ventral suspension and finger ran along one side, baby will move hip/butt to that side. Baby may pee a little too. Present at birth, goes away at 6-9 months of age. * Placing or stepping reflex is baby suspended and dorsum of foot touches examining table, baby will draw leg up like taking a step. Goes away at 4-6 months of age. * Tonic neck reflex (fencer’s pose) is with baby on back, head turned to side, facing hand will be straight out and opposite arm flexed. If you turn the head to the other side, baby should reverse pose. Goes away at 4-6 months. * Parachute reflex is not present at birth. This reflex is when baby is sitting up, you tip them over, they will move their hand out in anticipation for falling. If you grab the baby and dive them a little head down, they will spread both arms out to prevent face-first falling. Present at 6-8 months of age and should not go away. * Babinski is normal until about 18 months. This is big toe up, other toes fanned out. UMN lesion after 18 months. * Prone positioning with ventral suspension is when you hold the child face down with one hand on their chest and belly. One week old will look floppy because no good musculature. 1-2 month old will have better muscle tone. * Up to 2 months of age, head will lag if you pull baby up to sitting. This goes away at 2-4 months of age. * Newborn in prone will barely be able to get face over to side. At 1 month of age, baby will be able to clear exam table without nose rubbing. At 4 months of age, arms underneath with chest and head up. * Good pincer grasp seen at 9-10 months of age. Mnemonic is pointer finger makes a 1, pointer-thumb makes a 0. * Newborn will turn it’s head with nose touching in prone, flexed in ventral extension. Visually will prefer a face and has doll’s eye movements. * 1 month of age will clear exam surface prone, lift head to plane of body, will follow moving object.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Social smile at 2 months (4-8 weeks of age), lift head in prone position, keep head in plane of body for a little while, still tonic neck, still head lag, “coos”. * 3 months of age can lift head and chest off exam table prone, still tonic neck, social smile still. * 4-5 months will roll over from stomach to back. 5-6 months roll over from back to stomach. * 6 months can start creeping or crawling, sitting with pelvic support and back rounded leaning forward on hands, raking at a pellet, babbles. * 9 months of age will sit by self, creep, crawl, walk with hands held, pincer grasp, plays peek-a-boo. * 12 months of age will cruise (walk holding onto things), may walk a little, will adjust position to help dressing. * 15 months of age will walk by self. * 18 months of age will say no, body parts, 10-20 words. * 24 months of age will put sentences together. * 30 months of age can walk up stairs but alternating feet. * 36 months can go down stairs with alternating feet, know age “free years old”, can tell you if they are boy or girl. * 48 months can copy a cross or square (4 years, 4 sides, 4 objects). -------------------------------------------------------------------------------------------------------------------------------------------Attention Deficit Hyperactivity Disorder (ADHD) * 6yo boy is doing poorly in school. Teachers report he is distractible, impulsive, and fidgety. Parents state he is always on the go at home and has been a discipline problem. * Hyperactivity portion is not always there, more commonly seen in boys. * Characterized by inability to attend to the task at hand, increased motor activity, and impulsivity. * Etiology unknown. We do know they have problems filtering stimuli, e.g. flickering light bulb or bird chirping outside the classroom would be too distracting to accomplish a task. * ADHD kids have problems controlling their own behaviors to social accepted norms. * More commonly diagnosed in males overall, but inattentive-type more common in females. Probably 1:1. * DSM-IV criteria are inattentiveness (mistakes, difficulty paying attention, doesn’t seem to listen, doesn’t follow through on tasks, difficulty getting organized, avoids sustained mental effort, loses things easily, distractible and forgetful), hyperactivity (fidgety, out of seat, don’t play quietly), and impulsivity (say or do things without thinking about the consequences). Criteria should be noted at home and at school. * There is no test for this. There is the Connors questionnaire and others, but no diagnostic tests. * Treatment is pharmacologic and psychosocial management (treat family situation). * If associated learning disability, that should be managed as well. * Medications include methylphenidate, dextroamphetamine, pemoline, tricyclic antidepressants. * Diet has nothing to do with ADHD (e.g. chocolate, red dye #40, sugar). * Children will learn to control some of the distractibility and impulsivity. -------------------------------------------------------------------------------------------------------------------------------------------Enuresis & Encopresis * 7yo boy has problems with bedwetting. Mother says during the day he has no problems but is usually wet 6 of 7 mornings. He does not report dysuria or frequency, and does not have increased thirst. Mother says he is a deep sleeper. This is nocturnal enuresis, a disorder of arousal and sleeping. * Enuresis is defined as involuntary passage of urine after a normal age for toilet training (by age 3-5). * Every year there are fewer and fewer children with enuresis as children get older, so reassure parents. * Enuresis does run in the family. * Primary enuresis is a child that has never been dry for a significant portion of time. Secondary enuresis is the child that has been dry and now is having accidents; ask about home or school issues (e.g. new sibling, parents getting divorce, bully at school, grandpa died). * Nocturnal enuresis is associated with development delay of the bladder. * Worry about urinary tract infections and diabetes, which could be causing enuresis. * Treat with reassurance, bed bell system (child changes sheets after wetting), and possibly medications. Recommend child does not drink fluids for 2 hours prior to going to bed. * Encopresis is fecal incontinence is more common in males and usually psychological, such as not wanting to go to the bathroom at school and getting impacted then leakage around impaction. * Encopresis is triggered by voluntary holding then leakage around impaction. * Treatment of encopresis involves counseling and possibly cleaning out the patient’s bowels. -------------------------------------------------------------------------------------------------------------------------------------------Developmental Disorders * 4yo child speaks in unintelligible mumbles, prefers to play by himself, and rocks back and forth constantly.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

Parents state that as an infant he had a delayed social smile and was not very playful or interactive. * Autism is a developmental disorder, usually a problem with social relations. Also have verbal and non-verbal communication deficits, unusual responses to the environment. * Autism is usually picked up prior to 30 months of age. * Clinical features include failure to attach as an infant, delayed or absent social smile, failure to anticipate interaction (will not reach out arms if you go to pick them up), tend to have repetitive movements, may have a need for constancy, may have verbal or non-verbal communication delay, outbursts of anger, may hurt self or others. * No cure for autism, treatment consists of small educational groups and sometimes pharmacotherapy. * Prognosis for autism is very poor. * Asperger is a subset of autism, more communicative, appear more aware, do not have the language impairments that are seen in autism. However, they do have social impairments, do have repetitive behaviors, and have obsession interests and constancy. * Rett syndrome only seen in females, X-linked dominant (MECP2 gene), normal until 1yo then losing milestones or delay. Head stops growing. Will have hand-wringing movements and sighing sounds. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Pediatric Poisoning with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Overview * Poisoning is the 4th most common cause of injury in children. Occurs most often under 5yo (when child can begin to walk) and in teenage years (intentional or non-accidental). * Any poisoning over age 5 is most likely non-accidental, things like suicide, child abuse, intentional injury. * Majority of poisonings occur in the home, most likely in the home and bathroom. * Anticipatory guidance is involved here, seatbelts, car seats (started at birth), poisons on higher shelves. * Poisonings occur when normal routine is disrupted, such as family vacation, visiting grandma (house not “child proofed”), after a home move. * Child safety caps are good for prevention of poisoning, but can give you a false sense of security. Just because it has a child safety cap does not mean the child cannot get into it. The child is like a little burglar, if you give them enough time they can get into things. Idea is to slow them down so they get tired and do something else, or so you catch them in the act. * All poisons should be properly labeled. If you mix a name-brand cleaner into a squirt bottle and the child drinks it, you may not know what is in the bottle if it is not labeled. * Keep poisons and medications in a high up and locked cabinet. * Do not take medications in front of children. This sends the message that if mom and dad do this then the child should too. Example would be little girl presents with gynecomastia and says she wants to be like mommy. This child took mom’s menopause hormones (estrogen). * Dispose of medications properly, do not flush medications unless a medication insert specifically says to do so. If no instructions are given, remove medications from bottle and mix with undesirable trash (e.g. used coffee grounds or kitty litter). This helps keep animals (family pet) and children out. Place in a leak-proof bag to prevent leakage. * Always have the poison control number at home and in something that will be carried with the baby, such as a diaper bag. National U.S. number is 1-800-222-1222. * Many pharmacies no longer carry syrup of ipecac (emetic) and there is controversy about home activated charcoal. Best management is call poison control and go to ED. * If inhaled poison, remove child from source. If absorbed through skin, remove clothing and wash child off. * If poison swallowed, go to hospital. If poison in eye, flush eye with water for 15 minutes. * In ED, management is ABCs, quick history (e.g. how many pills, how long ago), fast focused exam. * Poisoning should be added to the differential anytime there is a bizarre constellation of symptoms. * Prevention of absorption can be done by causing emesis (rarely used), gastric lavage (best in first hours after ingestion), activated charcoal, cathartics (polyethylene glycol or other medications to speed GI transit), diuresis may help with certain ingestions. * Emesis and gastric lavage are not indicated for corrosives as they will make things worse. * Do not do induce emesis or do gastric lavage if patient has reduced gag reflex or is comatose. * Activated charcoal has few contraindications, but do not give if you just gave an emetic as activated charcoal may absorb the emetic leading to poor emesis. Again, emetics rarely used. * Activated charcoal not helpful for cyanides, metals, sodium, potassium, chloride, acids, bases. * Cathartics decrease GI absorption. Magnesium cathartics should not be used if the patient is in renal failure. * Diuresis and dialysis are options as well. These are usually last ditch measures.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Poisoning treatment of choice is supportive. There are few antidotes, so manage ABCs. -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Acetaminophen * 3yo was playing doctor with his 4yo sister. The sister told him that he was very ill and prescribed 25 acetaminophen tablet, which the child ingested. Another case would be a 16yo who takes a bottle of acetaminophen tablets after an argument with her parents or breaking up with her boyfriend. Hepatotoxicity is worse in adults. Either way, we need to manage these patients. * Acetaminophen is used for analgesia and as an anti-pyretic. Metabolism is mainly via liver. * Toxic dose in children under 12yo is 150mg/kg. It is also important to know if the pill is extended release. * Stage I acetaminophen toxicity is first 24h after ingestion. Patients have nausea, vomiting, diaphoresis. This is a good time to get liver function tests because they will be normal. * Tests to get are liver enzymes (transaminases), coagulation studies, bilirubin, and albumin. * If patient is a girl in childbearing years (12 to 52), get a pregnancy test. * Stage II acetaminophen toxicity is 24-72h after ingestion and patient is starting to look better. However, if the patient is going to have liver problems, this is when you’ll see changes in LFTs and coagulation studies. * Stage III acetaminophen toxicity is 72-94h after ingestion and patient will have a peak in LFTs. This is when you know if the liver will recover or get much worse. * Stage IV acetaminophen toxicity is when the liver is recovering. * Majority of children will not have liver problems. However, acetaminophen toxicity is the number one cause of liver transplant in the U.S. * Management also include ordering an acetaminophen level. Acetaminophen tends to peak at 4 hours. * Antidote for acetaminophen is N-acetylcysteine (NAC). Rumack nomogram will help you determine if we should give NAC. If level is above the top line (probably hepatotoxicity area), give NAC. If level is between the two nomogram lines, this is possible hepatotoxicity, give NAC. * Why not give to everybody? There is a loading dose then a dose every 4 hours for 16x (17 total doses). Generally the patient will not drink it because it tastes lousy and smells like rotten eggs so is given via NG tube. * Once you start giving NAC, it does not matter what the acetaminophen level is. The level will drop and will not change management, keep giving NAC regardless of any subsequent acetaminophen level. * Activated charcoal is given not only for acetaminophen here but in case the patient took other poisons along with the medication (e.g. anti-depressant medications). * If acetaminophen level greater than 150, treat patient with NAC. NAC best given within 8 hours of ingestion. -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Alcohol * A high school senior arrives in the Emergency Department (ED) immobilized on a backboard with cervical spine collar in place after a motor vehicle accident. The patient was a restrained passenger in the backseat passenger-side. He states that he and the 5 other teens in the car had just left the party when their car was struck. The smell of alcohol is present on physical exam, the patient has no history of diabetes, and no broken liquor bottles were found in the car or trunk at the scene of the accident. * One drink is 12oz can beer, 9oz glass wine, 1.5oz liquor shot. * Alcohol use is seen often in adolescence. Negatively affects the parachute reflex. Joking aside, it not only can lead to negative outcomes for the teen but for others (e.g. car accident) and their families. * Factors affecting intoxication include amount of alcohol ingested, patient size, if food was ingested, and tolerance. * Most states cutoff intoxication for driving at BAC 0.08. This is legally drunk regardless of effect due to tolerance. * From 50-150mg/dL there are affects, incoordination, blurred vision, slowed reaction time. BAC 150-300 gives visual impairment, staggering, and slurred speech. BAC 300-500 produces stupor, hypoglycemia, coma. BAC over 500 is fatal if patient has no tolerance. * Any comatose patient should get an alcohol level drawn as well as blood glucose. * No specific antidote, only supportive treatment. Treat metabolic acidosis and hypoglycemia. * Michaelis–Menten kinetics for alcohol is zero order. Zero-order drugs are PEA: phenytoin, ethanol, aspirin. * Zero order kinetics means alcohol will be constantly metabolized at the same rate regardless of other factors. * Activated charcoal can be used in case they got into anything else, but not too helpful for the alcohol. * If high blood alcohol levels and nothing is helping, then consider dialysis. -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Amphetamines * The guidance counselor refers a 10th grade student to the school nurse for weight loss, insomnia, and depression. * Amphetamines are stimulants so why is he depressed? Because he’s coming down off of them.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Patients will have either acute or chronic toxicity. Acute toxicity includes diarrhea, palpitations, arrhythmias, syncope, hyperpyrexia, hyperreflexia, seizures, coma. * Chronic toxicity due to tolerance includes restlessness, nervousness, depression, insomnia, suicidal behavior, weight loss. Diagnosis is via urine drug screen (UDS) will show amphetamines for up to 1-3 days and methamphetamines for up to 3-5 days. * For acute intoxication, supportive therapy with ABCs, cooling blanket for hyperthermia, sedation if needed. -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Salicylates * A teenage girl is brought by ambulance to the ED because her mother found her ingesting a bottle of aspirin. The patient states that she “wants to die” as her boyfriend has decided to date someone else. * Aspirin is used as an analgesic, anti-inflammatory, and antipyretic. Other medications with salicylate in them include bismuth subsalicylate (Pepto-Bismol) and methyl salicylate (Oil of Wintergreen). * Salicylates are the most common cause of drug poisoning in the United States. * 80yo woman presents with increasing back pain. Has been taking her pain medication more and more often over the past week. Daughter asks about her mom’s ringing in the ear. The patient interrupts to say “It’s just cause I’m getting old.” Think salicylate poisoning, not just in pediatrics. * Salicylates uncouple oxidative phosphorylation, increase metabolic rate, cause tachypnea, tachycardia, fever, and hypoglycemia. You try to put these symptoms together thinking, “Well what infection can cause this?” * By inhibiting the Kreb cycle, you get metabolic acidosis, liver damage, coagulation problems (platelets). * Presentation includes vomiting, hyperpnea, fever, lethargy, mental confusion all seen in mild. Seizures, coma, respiratory collapse seen in severe ingestions. Hyperventilation, dehydration, bleeding disorders, seizures, coma seen in chronic ingestion. Tinnitus is a common symptom associated with salicylate level over 30mg/dL. * Stage I salicylate toxicity last about 12h and involves respiratory alkalosis, losing potassium and bicarb in urine. This stage is 12h in adolescent but may not be seen in a small child. It can mimic diabetic ketoacidosis. * Stage II salicylate toxicity includes paradoxical aciduria, 12-24h after ingestion in adolescent. May be sooner in the younger child. * Stage III salicylate toxicity includes metabolic acidosis, dehydration, hypokalemia. This stage occurs earlier in infant, later in adolescent (> 24h). * White count, hematocrit, and platelets may be increased. BUN and creatinine may be increased * Labs can be all over the place, hypernatremia, hypokalemia or hyperkalemia, hyperglycemia or hypoglycemia, ABG showing metabolic acidosis with respiratory compensation in children. In adolescents, ABG will show respiratory alkalosis alone. * Done nomogram is for salicylate overdose. Using the Done nomogram, you can determine how bad the ingestion can be, even though there is no antidote. * Ferric chloride test is done by putting a drop of urine on a ferric chloride tablet. If tablet changes color, you know there is aspirin in the system. It does not say how much (quantitative), just qualitative. Obtain blood aspirin level. * Treatment is supportive care. Gastric decontamination if soon enough. May attempt to change urine pH by giving bicarbonate IV, which would speed excretion of aspirin. Severe cases may need hemodialysis. -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Carbon Monoxide * 5yo is brought to the ED for a first time seizure. The child was previously well. The father states the child was traveling across country in an older model vehicle when the seizure occurred. The child was sleeping on the car of the vehicle and there were 5 adults smoking tobacco at the time of the event. On physical examination, the child appears drowsy. Pulse oximetry reads 97%. * Carbon monoxide is colorless and odorless. Can come from a bad car, not necessarily a car running in a garage, many times because the CO is seeping into the car. * CO will bind hemoglobin a 250x better than oxygen does. Oxygen is thus displaced giving carboxyhemoglobin. * CO (carboxyhemoglobin) level of 0-10% has no symptoms. Smokers tend to have 3-5% as baseline. * CO level of 12-20% gives headaches, 21-30% gives worse headaches and irritability, 31-40% gives severe headache, lethargy, nausea, vomiting, 41-50% gives confusion, syncope, tachycardia, tachypnea, 51-60% can cause coma and seizures, 61-70% gives hypertension and respiratory failure, > 70% is fatal. * Cherry red blood on ABG may be seen, cherry red skin is very rarely seen. * PO2 will be lousy even with red blood. * Acidosis will be seen on ABG. * Treatment is to remove patient from the source (replace car, fix house), put on 100% oxygen, severe cases get hyperbaric oxygen. Half life from 240mins to 47mins with 100% oxygen, down to 22mins with hyperbaric.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Sequelae include behavior changes, memory loss, blindness, and can all occur with one exposure. * Cyanide intoxication, seen in house fires, is treated with amyl nitrate, then sodium nitrite and sodium thiosulfate. -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Caustics (Acids & Alkali) * 2yo presents to the ED with his parents who say they found the patient drinking some lye. The patient is crying profusely with blisters and burns noted on inspection of the mouth. The patient is drooling. * Acids cause tissue necrosis. Alkalis cause liquefaction necrosis. Burns worse at extreme of pH (< 2, > 12). * Manage airway immediately due to airway burns and edema. * Esophageal strictures can occur. Pylorus strictures can lead to vomiting or delayed gastric emptying. * Endoscopy can be done to determine extent of burns. * Treatment is to remove caustic by removing from skin and flushing mouth. * Do not induce vomiting in these patients as it will burn. Do not do gastric lavage because you can perforate the esophagus as the NG or OG tube travels down. * No need for antibiotics. Role of steroids is questionable. -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Cocaine * 15yo is brought to the ED with dilated pupils, tachycardia, and chest pain. A classmate reports that she thinks she saw the patient snorting in the locker room. * Cocaine can be taken various ways, snorted, smoked, injected. Cocaine is a potent vasoconstrictor. * Cocaine has a short half-life. It gives a feeling of euphoria, CNS stimulation, restlessness, excitement, agitation. * Later symptoms include hypotension, seizures, coma, respiratory depression. * Chest pain can occur as well as myocardial injury. * Snorting the powerful vasoconstrictor can lead to perforated nasal septum due to ischemia. * Urine drug screen (UDS) to test for cocaine, in urine for up to 2-5 days. * May see packets on an abdominal film if patient is a drug smuggler. * Death can occur if a packet bursts and patient absorbs large amount of cocaine. * Treatment is supportive, no antidote. Since half-life is short, they will do alright after initial hump. * Hypertension can be profound due to vasoconstriction. Chronic users can develop cardiomyopathy. -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Hydrocarbons * 2yo is brought to the pediatric ED because the patient ingested gasoline. The gasoline has been placed in a soda bottle to be used for the lawnmower. The patient does not appear to be in respiratory distress but wheezing is present at the right base. * Main problem in not ingestion because it tastes lousy so they will not drink much. The problem is in aspiration. * Hydrocarbons found in fuels, solvents, cleaners. * Patient may have cough, emesis, fever. Symptoms may be delayed for 6 hours. So, if kid comes in right after ingestion do not listen to the lungs and send them home. Monitor for 6-8 hours. * Physical exam can show shortness of breath, wheezing, rales, dullness to percussion. * Aspiration pneumonitis on x-ray. * Treatment is supportive. Gastric lavage is contraindicated. Antibiotics are not indicated. * Complications are not common, but can have respiratory problems. -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Organophosphates * A young boy who is visiting his grandfather’s farm is brought to the ED by his grandparents. The grandfather says the child had been playing in a newly fertilized field when he developed drooling, tearing, and emesis. At present, the patient is areflexive and has defecated and urinated in his trousers. The patient appears lethargic. * Organophosphates found in insecticides. They are acetylcholinesterase inhibitors. * Organophosphates lead to a hypersecretory state. Mnemonic is SLUDGE or DUMBELS: diarrhea, urination, miosis, bradycardia, emesis and edema, lacrimation, salivation. * Triad is bradycardia, miosis, and fasciculations. * Diagnostic tests include history and physical, RBC cholinesterase activity will be decreased (takes a while). * Treatment is ABCs, remove clothes if skin exposure, wash patient to prevent more absorption. * Treatment includes atropine and pralidoxime (2-PAM Cl). * Some organophosphates are carbonate esters and pralidoxime will not work as well for these. * Give atropine, sometimes a continuous infusion, until reversal of symptoms (until tachycardia, mydriasis, decreased secretions) then wean atropine.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

-------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Iron * Iron poisoning is the most common cause of death from poisoning in childhood. * Severity of iron poisoning depends on the amount of elemental iron, not just mg of “iron” in the preparation. * Stage I iron intoxication occurs about 30min-6h after ingestion, symptoms are nausea, vomiting, diarrhea, abdominal pain. Mimics hemorrhagic gastroenteritis. * Stage II iron intoxication occurs 6-12h after ingestion and patient will clinically improve. * Stage III iron intoxication occurs 24-48h after ingestion, indicated more severe poisoning, progressive circulatory collapse (shock), hepatorenal failure, bleeding, metabolic acidosis, coma. * Stage IV iron intoxication 1-2mo after ingestion, signs of GI scaring/obstruction, vomiting like pyloric stenosis. * Children’s vitamins with iron do not have enough iron to cause intoxication. Iron intoxication occurs when child gets into grandma’s vitamins or mom’s iron supplements or other adult preparations. * Serum iron level can be obtained. Levels > 500 is considered severe poisoning. * Sometimes can see iron tables on an abdominal film (radio-opaque tablets). If liquid, then won’t see on x-ray. * Treatment if no gastroenteritis is emesis (if early), whole bowel irrigation to flush tablets, endoscope to remove tablets if they are still there. * Antidote is deferoxamine for symptomatic patients, hypotension, lethargy. Treatment is supportive. * If asymptomatic, wait for serum iron and TIBC. If serum iron > 350, can use deferoxamine. * Deferoxamine causes urine to change color, looks like wine. * Complications include GI scaring and obstruction. -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Lead * 24mo has a lead level of 19 on a routine screening for a well-child check. The patient is asymptomatic but lives in a historic home being renovated by the parents. * Lead poisoning is a chronic disorder often seen in children near environmental exposure risks such as old houses being restored or old houses with paint chips. New houses do not have lead in the paint. * Other sources of lead include pottery, plates, fishing weights, aerosolized from stripping pain in old homes, lead pipes, lead-glazed pottery with folk remedies. * A good source of dietary iron is using iron-based skillets (joke). Lead-glazed pottery will put lead in food. * A majority of patients are found on routine screening and many will be asymptomatic. * Anorexia, apathy, lethargy, anemia, decreased play activity, aggressiveness, poor coordination, poor school performance, are symptoms of lead intoxication. Encephalopathy or coma with acute active ingestion. * Chronic lead exposure can cause apathy, clumsiness, nausea, vomiting. * Diagnosis is via blood-lead level, gold standards. Best test is not free erythrocyte protoporphyrin. * Levels greater than 10 are considered abnormal. * CBC may reveal anemia, basophilic stippling. X-ray will show lead lines at joints (metacarpals, knee). * Treatment is to remove child from the environment. * Lead > 15-19 then screen q4mo, > 20 then confirm with venous blood, >45 begin medication treatments, >55-69 treatment is EDTA or succimer (oral chelating agent), > 70 is EDTA and dimercaprol (BAL, British Anti-Lewisite). * Dimercaprol is mixed with peanut oil (BAL in oil) so ask about peanut allergy. * Usually seen in children < 3yo, encephalopathy can occur after 3-6 weeks of active lead ingestion. -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Antihistamines * 2yo took his brother’s allergy medication and is brought to the hospital by ambulance because of tremors and hyperactivity. The medics report the child had a seizure before arriving at the hospital. On physical exam, the child has fever, flushed skin, tachycardia, and fixed-dilated pupils. * Antihistamines can depress or stimulate the CNS. Some preparations contain alcohol. Some contain decongestants like pseudoephedrine which will stimulate the CNS. * Presentation varies from drowsiness, to insomnia and nervousness. Can be hyperactive and experience hallucinations. Can present with seizures. Anticholinergic effects (fever, tachycardia, flushed skin, mydriasis). * There is no diagnostic test and no antidote. Requires high index of suspicion and supportive care. * Activated charcoal can be given. If long-acting antihistamine, then can try cathartics or whole bowel irrigation. -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Barbiturates * 3yo arrives with his parents after ingesting his brother’s seizure medication, phenobarbital. The patient has constricted pupils and appears to be in a coma.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Barbiturates used for anticonvulsants. The increase the duration of GABA channel opening, depresses CNS. * Mild to moderate toxicity will mimic alcohol intoxication, slurred speech, clumsiness. * Severe acute intoxication will cause changes in level of consciousness and will cause respirator depression. * Look for constricted pupils, confusion, hypotension, poor coordination, respiratory depression, coma. * Treatment is ABCs, intubation if respiratory depression, manage hypotension, supportive care. * Gastric lavage and activated charcoal are options. Forced diuresis and alkalinization of urine can help with longacting barbiturates, such as phenobarbital. * Complications include death from respiratory depression. -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Tricyclic Antidepressants (TCA) * 3yo presents to the ED after taking her brother’s bedwetting medicine. She is noted to be drowsy. ECG shows widened QRS and prolonged QT and QTc. * TCAs produce sedation, alpha-blocking effects, anticholinergics. * Most important thing to worry about is the ECG. Monitor the patient. * Most common causes of death in TCA overdose patients is cardiac arrhythmias and seizures. * Symptoms include drowsiness, delirium, hallucinations, disorientations, seizures, coma. Initially hypertension and later on hypotension. * Treatment is supportive therapy. Activated charcoal can be used. Sodium bicarbonate can be used to alkalinize and to prevent dysrhythmias. Arrhythmias can be managed with lidocaine. Seizures treated with anticonvulsants. -------------------------------------------------------------------------------------------------------------------------------------------Poisoning: Treatments * Acetaminophen treated with N-acetylcysteine (NAC). * Anticholinergics treated with physostigmine. * Anticholinesterase treated with atropine and pralidoxime. * Carbon monoxide treated with oxygen. * Cyanide treated with amyl nitrate then sodium nitrite and sodium thiosulfate. * Digoxin treatment is avoid hyperkalemia and digoxin-fab fragments (Digibind). * Ethylene glycol treatment is ethanol. * Opioids treated with naloxone. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Pediatric Trauma & Orthopedics with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Head Trauma * 5yo fell approximately 6ft from a tree and is brought to the ED because of loss of consciousness at the scene for 1 minute. Patient is awake and alert on arrival, Glascow Coma Scale is 15. There is an obvious deformity of the right forearm, various bruises, and otherwise unremarkable exam. Next test should be CT scan of head. * Head trauma is a common cause of childhood hospitalization and even larger number of ED visits. * Serious head trauma is usually secondary to motor vehicle accidents, sports, recreation, violence (in that order). * Infants need to be in a car seat on their first ride home from the hospital. Infants face rear, safest place is back seat in the middle. At 1yr and 20lbs, car seat can face forward. Safest place is still back seat in middle. At age 4 or 40lbs, can get booster seat. By age 7, can use regular seatbelt. Adults should always wear seatbelts. No child under the age of 13 should be in the front seat if passenger side airbag. Short adults shouldn’t be in the front seat either if passenger side airbag. * Anyone riding a bicycle should be wearing a bike helmet, children and adults. About 200 deaths per year under the age of 16 of children from riding bicycles. * 55,000 injuries per year from trampolines (2000), anything from twisting ankle to breaking neck. * Presentation of head injury depends on trauma, may be with or without deficit. Children with neurologic deficits may have a history of a lucid interval, suspect epidural hemorrhage. * Epidural needs craniotomy and evacuation, subdural probably does too. * Epidural hematoma is lenticular or lens shaped on head CT. Subdural hematoma is crescent shaped on head CT. * Battle sign bruising behind the ear, Raccoon eyes bruising around the eyes, and hemotympanum blood behind ear drum associated with basilar skull fracture. Do not place nasal tubes (NG, nasal airway) in this case. * Otorrhea or rhinorrhea after head injury, think CSF leakage and basilar skull fracture. * Ring test for CSF, put drop of fluid on filter paper and blood will stay in the middle with a yellowish ring around the blood, implies this is CSF. * Concussion is the most common head injury seen in children. Usually brief loss of consciousness then returning to

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Study Notes – Pediatrics

James Lamberg

28Jul2010

normal (e.g. boxer getting knocked out). * Disturbances of vision and equilibrium can occur. Concussions divided into different grades. * Grade I concussion is with confusion, no amnesia, no loss of consciousness. * Grade II concussion is with confusion and amnesia, no loss of consciousness. * Grade III concussion is with confusion, amnesia, and loss of consciousness. * Grade I concussion without symptoms can go back to sports after 20 minutes. * Grade II concussion without symptoms for a week, can return to sports after a week. * Grade III concussion without symptoms for a week, can return to sports after a month. * Grade I concussion after second time, without symptoms for a week can go back to sports after a week. * Grade II concussion after second time, without symptoms for a week can go back to sports after a month. * Three Grade I, Two Grade II, or Two Grade III, take the rest of the season off. * Mild concussions not usually associated with sequelae. * Retrograde (can’t remember what happened) and antegrade (can’t form new memories) amnesia can occur. Example would be kid remembering playing a sport then next thing they knew they were in the hospital. Antegrade issue would be meeting the patient, leaving, then coming back and they don’t know who you are. * Some patients may develop post-concussion syndrome with memory loss, confusion, and depression. * Epidural hematoma is a rapidly occurring bleed between the dura and the cranium. Look for trauma, loss of consciousness, lucid period, then loss of consciousness again. * Epidural hematomas associated with middle meningeal artery laceration. * Subdural hematomas occur with tearing of the bridging veins. Can occur from head trauma and child abuse. * Subdural can be caused by arterial lacerations also. * Contusion is a bruising of the parenchyma of the brain, usually frontal and temporal lobes. This causes punctate hemorrhages on head CT scan. So not between brain and cranium, in parenchyma itself. * Contusion treatment is usually observation. Can develop cerebral edema, can get herniation if severe enough, manage intracranial pressure increases in these patients (e.g. mannitol). * CT scan should be done on a child with loss of consciousness greater than 1 minute or if there is a question of loss of consciousness (e.g. no one saw it happen), abnormal neurologic findings, deteriorating neurologic status. * Also do cervical spine films and keep neck immobilized until it is cleared. * Treatment is ABCs first, cervical spine injury (back pain, pain radiating to arm, neck/back bruising). * Many patients with head trauma will have drowsiness after the injury, but usually easily aroused, may complain of headaches and vomiting. If no loss of consciousness, physical exam alright, probably can send them home. * Headaches and vomiting for first few hours after head injury is normal. If it persists, then worry (do CT scan). * Head trauma can cause transient neurologic symptoms can last for minutes to hours, can get occipital blindness, confusion, malignant post-traumatic cerebral swelling, seizures. * Child with worsening symptoms should suspect subdural or subarachnoid bleed. Recovery varies. -------------------------------------------------------------------------------------------------------------------------------------------Submersion Injuries * 15mo was found with his head stuck in a bucket filled with cleaning agent. The mother says she received a telephone call. She was only speaking on the telephone for 5 minutes. This is a common scenario. * Drowning is a submersion that results in asphyxia and death while submerged or within one day of the episode. * Survival after 24h of submersion is near-drowning, whether patient dies or not. * Near drowning is the second most common cause of accidental death in children. 8000 drowning/year in the U.S. About 40% of victims are under the age of 4yo. Majority of drowning occur in freshwater (pool, lake, bucket). * At risk population are males/adolescents (feel that they can’t die), unsupervised toddlers, children with seizure disorders, and concomitant use of drugs and alcohol (e.g. diving while drunk). * Home is most common site of drowning. Swimming pools, water slides, hot tubs, bath tubs, toilets, buckets, washing machines, drainage ditches, rivers/streams/canals. * Wet drowning is with aspiration of fluid. Most drowning start at dry drowning due to laryngospasm to prevent aspiration, eventually you gasp for air and aspirate. * Freshwater drowning may cause more lung damage secondary to hypotonic fluid that flushes out the surfactant. Salt water drowning tend to have more pulmonary edema. Treat hypothermia. * Obtain CXR, blood gases, consider cervical injuries (e.g. diving). Treatment is supportive, prevention is key. * Lungs can be eventually fixed, main problem that cannot be fixed is hypoxia and ischemia to the brain. * Neurologic injury is the main cause of mortality and morbidity. * Water has to be very cold to get neuro-protective effect. Patient must be warmed as part of resuscitation.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

-------------------------------------------------------------------------------------------------------------------------------------------Thermal Injuries * 2yo comes to ED after being splashed by hot coffee after it was pulled from the table when he pulled the table cloth. He has first and second degree burns. * Burns can occur from spillage, fire, chemical, electrical. Electrical burns can be deceptive in their destruction. * Burns are the second leading cause of death in children. * Scald burns are 85% seen in children < 4yo, typically story is child pulling something off the table or stove. Also can be seen in abuse, when child is dipped into very hot bath water. * First degree burn is erythema (e.g. sunburn), second degree burn has blister, third degree is full thickness. Fourth degree is down to bone with carbonification. * Rule of 9s is different in children, more surface on head in infant. Rule of the palm used for < 10% where child’s palm is about 1% of burn surface area. * Parkland fluid resuscitation formula is 4mL/kg * BSI burned. * Do not include first degree burns for Parkland formula. Just include second and third degree burns. * Remember deficit (Parkland) is at time of burn, if child arrives 2 hours later you are 2 hours behind. * Give half of fluid deficit over first 8 hours then next half over 16 hours (24 hours total). * Do not forget analgesia. Burns hurt immensely. Also assess tetanus status. -------------------------------------------------------------------------------------------------------------------------------------------Orthopedics: Limping * Most common cause of limping in a child is acute trauma. * Age 0-4yo limping, think about developmental dysplasia of the hip. * Age 4-8yo limping, think about Legg-Calve-Perthes disease. * Adolescent limping, think about slipped capital femoral epiphysis. * 5yo boy has developed progressive limping. At first it’s painless, it now hurts to run and walk. The pain is in the anterior thigh and is relieved by rest. Parents recall no trauma. This is Legg-Calve-Perthes disease, ages 4 to about 12yo. It is an avascular necrosis, hip femoral head vascular supply interrupted. * Legg-Calve-Perthes disease can occur after trauma, but cause unknown. * Transient synovitis or venous congestion can also cause Legg-Calve-Perthes disease. * Hyperviscosity and coagulation abnormalities have been implicated. * More commonly seen in boys, 20% bilateral. Usually painless limping initially, but can progress with pain worse with activity and relieved by rest. * Pain may be referred to the groin, hip, thigh, or knee. If patient has knee pain, think about the hip as well. * First step in management is an x-ray of the hip, both sides. You’ll see destruction at the femoral head. * Follow-up films are also helpful, will show the femoral head coming back to normal (takes a couple of years). * Goal is to maintain joint mobility. Keep hip in the acetabulum, via bracing and maintain child activity. * Complications of Legg-Calve-Perthes disease includes osteoarthritis. * DDX for Legg-Calve-Perthes disease includes trauma. * Developmental dysplasia of the hip x-ray will show a wider hip (femoral head to acetabulum) on one side. * 20% family history with developmental dysplasia of the hip. Associated with breech positioning, torticollis. * Developmental dysplasia of the hip is a spectrum of disease from a loose hip to a dislocated hip. * Physical exam will feel a clunk or click on Barlow or Ortolani test * Ortolani, hold trochanters, hips brought in and out. Knees not involved as they can slip, which is normal. * Next step in management is hip ultrasound, which can be diagnostic in a newborn. * X-rays helpful later on, frog-leg position. * Treatment includes Pavlik harness, keeps femoral head in joint close to acetabulum, acetabulum grows around. * Treatment down the road could involve casting, so early diagnosis is better. * Overweight adolescent with limping and pain referring to knee. Think slipped capital femoral epiphysis. * Child tends to take antalgic position, leg rotated externally to reduce pain. * Test to order is suspecting slipped capital femoral epiphysis is TFTs (T4, TSH), FSH, LH because there is a higher risk for endocrine problems and hypogonadism. -------------------------------------------------------------------------------------------------------------------------------------------Orthopedics: Scoliosis * 12yo girl is seen for routine physical exam. She voices no complains. Exam is remarkable for asymmetry of the posterior chest wall on bending forward. One shoulder appears higher than the other when she stands up. * Scoliosis is an abnormal curvature of the spine due to misalignment of the spine in the frontal plane.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Scoliosis can occur at different ages. Most causes are idiopathic, other causes include hemivertebra. * Scoliosis is usually painless and diagnosed on routine physical exam via Adams test (forward bending). * Best test to diagnosis scoliosis is x-ray. Radiologist will tell you degree of curvature (Cobb angle). * Treatment usually not needed for mild curvatures. * Treatment for more severe curves includes bracing or even vertebra fusion. * Exercise and electrical stimulation have not been shown to help with scoliosis. * Complications include joint disease, cardiorespiratory disease if severe enough curve. * Infantile scoliosis (0-3yo), juvenile scoliosis, adolescent scoliosis. * Congenital scoliosis with hemivertebra and is associated with genitourinary abnormalities such as horseshoe kidneys, congenital heart disease, and spinal dysraphisms (e.g. spina bifida). * Congenital scoliosis may require earlier surgical intervention to prevent worsening curvature. * Neuromuscular diseases associated include cerebral palsy. * Neurofibromatosis, Marfan, and VACTERL (VATER) syndromes associated with scoliosis. * VACTERL: Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Tracheoesophageal fistula, Esophageal atresia, Renal (Kidney) and/or radial anomalies, Limb defects. -------------------------------------------------------------------------------------------------------------------------------------------Orthopedics: In-Toeing & Flat Feet * Newborn is noted to have a foot that is stiff and slightly smaller than the other. The affected foot is medially rotated and very stiff, with medial rotation of the heal. This is club foot, talipes equinovarus. * With medial rotation of the heal, think about club foot. * Half of club feet will be unilateral, half will be bilateral. More common in boys. * No known cause for talipes equinovarus, can be from in-utero positioning, can run in family. * Other disorders include amniotic bands, spinal dysraphisms, developmental dysplasia of the hip, arthrogryposis. * Differential diagnosis includes metatarsus adductus, tibial torsion, femoral anteversion. * With metatarsus adductus (metatarsus varus) you can bring the foot into neutral position and there is no heal rotation, no need for special shoes or casts. * Tibial torsion diagnosed by looking at malleoli, medial malleolus is normally a little anterior to the lateral. Treatment is parental reassurance. * Femoral anteversion diagnosed by seeing the knees angled toward each other while child walks. Can be due to sitting position so recommend child sits with legs out or legs out and crossed in front of them (not under). * Most children are born with fat pad on the bottom of their feet. As this disappears with age, they develop a longitudinal arch. They may look like flat feet early on and this is normal. * Management of flat feet is supportive, no need for arch support, no major problems. -------------------------------------------------------------------------------------------------------------------------------------------Orthopedics: Tumors * Bone tumors more likely seen in adolescents when there is rapid bone growth. * Primary neoplasms are osteosarcoma (most common) and Ewing sarcoma (more common in first decade of life). * Retinoblastoma associated with osteosarcoma, particularly bilateral retinoblastomas. * Osteosarcoma seen in long bones at the metaphysis. * Both osteosarcoma and Ewing sarcoma present with pain at the bone site. May be limitation of motion and palpable visible tumor. Deep bone pain should make you suspicious, child waking up in the middle of the night. * Next step in management is x-ray. Osteosarcoma shows sunburst pattern on x-ray, Ewing shows onion-skin pattern. Ultimate diagnosis is made on biopsy. * Treatment is surgery and chemotherapy, worry about metastasis to other bones and lungs. * Ewing sarcoma will need surgery, chemo, and radiation. Prognosis worse if primary tumor in the pelvis or if there is metastatic disease at the time of diagnosis. -------------------------------------------------------------------------------------------------------------------------------------------Orthopedics: Miscellaneous * Popliteal cyst (Baker cyst) is a non-pulsatile painless swelling on the back of the knee. Similar to ganglion cyst seen on the wrist. * Treatment is reassurance. * Differential of popliteal cyst includes lipoma, aneurysm (pulsatile), neuroma, rarely tumor. * Osgood-Schlatter disease is an overuse injury (e.g. sports training), seen in ages 10-12yo commonly. * Knee pain is specifically over the tibial tubercle, traction apophysitis of tibial tubercle. * No real need for x-ray because you can palpate, but x-ray would show calcification at quadriceps insertion. The calcification is due to tearing at the insertion site with repetitive injury (e.g. doing drills for sports).

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Treatment is supportive, resolves over 1-2 years, mild analgesics (acetaminophen, ibuprofen). * Radial head subluxation (Nurse maid elbow) is associated with sudden traction. Baby being held and traction occurs, such as mother pulling child’s arm or child throwing them self on the ground in a temper tantrum. * Differential is broken bone. Next step is x-ray, but not completely necessary. * Treatment is gentle supination to slide radial head back into annular ligament. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Pediatric Infectious Disease with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Immunizations * Actual immunization schedule months not as important as timing between immunization shots. * Baby had a temperature of 103F and cried consolably for 2 hours after receiving a DTaP vaccine. What is your advice to the mother prior to administering the next set of immunizations? * This is a normal reaction to vaccination. Do not withhold vaccinations due to fever. * Immunity is resistance of a body to the effects of a deleterious agent, such as a pathogenic microorganism. * Types of immunity are acquired, active (antibody produced in response to vaccine or toxoid), passive (giving preformed antibodies), natural (exposed to agent), herd. * Herd immunity means if enough immunizations are given in a certain population, those who are not immunized do not have to worry about disease since there will be no disease. This is a very important concept in almost all immunizations as a group of people cannot get immunizations (e.g. chemotherapy, immunosuppressed, etc.) so the responsible public protects these individuals by herd immunity. * Herd immunity is a great concept, but people may ask why does one child have to run the risk of an immunization and another does not. This was part of the reasoning behind the vaccines/autism fiasco; the thought is that if vaccines can cause autism then one can be selfish and let the rest of the population get vaccinated while the selfish individuals reap the benefits of herd immunity. However, this increases risk for those who do not have the luxury of choice for vaccination (e.g. immunocompromised). Deaths from preventable disease have occurred in unvaccinated populations, even today (2001-2009) such as the MN death in 2008 from Hemophilus influenzae B (Hib). * Vaccinated population must reach 90%, in general, for herd immunity protection. * DTaP is toxoids for diphtheria, tetanus, pertussis. Oral polio no longer used. Polio vaccine now is killed. MMR is a live vaccine, measles, mumps, rubella. HepB is a recombinant vaccine, so no live component. Varicella has live component like MMR. Influenza is live also. Pneumococcal vaccine also available. * IM injections for non-live vaccines, subcutaneous injections for live component vaccines. * Inactivated vaccines can be given simultaneously at separate sites, except cholera, typhoid, and plague. * Live virus vaccines which are not given on the same day, should be given at least a month apart. So give MMR and varicella a month apart if they are not both available on the same day. * Pneumococcal and whole-virus influenza can be given simultaneously at different sites. * Egg hypersensitive is bad rash, angioedema, anaphylaxis, or other serious reaction. * Measles, mumps, influenza, yellow fever, and combined MMR vaccine are grown in eggs. Either avoid the vaccines with true egg hypersensitivity or desensitize first. If unknown egg hypersensitivity, risk is very low for an anaphylaxis reaction with vaccination. Must be known and/or documented serious egg reaction. * Neomycin and streptomycin are contained in killed polio and MMR. So avoid if neomycin allergy. * Vaccines have been free of thimerosal (mercury-component) since 2001. Risk of catching disease from nonvaccination is much higher than risk (if any) of thimerosal component issues. * Not vaccine contraindications: reaction to previous DPT with temperature less than 105F, redness soreness swelling at shot site, mild acute illness in otherwise well child, child on antibiotics, preterm child, family history of seizures, family history of sudden infant death syndrome (SIDS). * With delayed immunizations, rule is to give as many as you can when you can. * Immunization time frame is less important than the order of immunizations. * Hepatitis B (HBV) vaccine timing depends on if the mother is HBsAg positive. If mother is HepB surface antigen negative, then give vaccine at birth, one month, or two months of age. Next scheduled does will be 1-2 months after first vaccine, third dose given 6-18 months after first vaccine. This is the same schedule used for anyone who has not received the vaccine before. * If mother is HBsAg positive, give HBV vaccine at birth and give baby HepB immune globulin (HBIG). Do not wait 1-2 months for next vaccine, give second vaccine 1 month later and give third vaccine 6 months after first. This schedule is more rigid. HBIG given at a separate site from the HBV vaccine because it can inactivate it. * DTaP is given at 2mo, 4mo, 6mo, and 15-18mo, then last dose around 4-6yo prior to starting school. Must get 4 doses of DPT to get into school if the last does was after 4yo. Should get 5 doses ideally.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Tetanus booster given every 10 years after DTaP series, unless you get a dirty cut/wound 5 or more years after the last tetanus. If it has been 5+ years since last tetanus and patient has dirty wound (e.g. burns, stepped on nail) then must give the patient tetanus toxoid. * Tdap (tetanus and diphtheria toxoids with acellular pertussis) given at 11-12yo. Only one dose needed. * Acellular pertussis has greatly reduced side-effects (e.g. fever). * Hemophilus influenzae type B (Hib) given at 2mo, 4mo, 12-15mo. Another manufacturer is a 2mo, 4mo, 6mo, and 12-15mo vaccination. So the 6mo shot for Hib is manufacturer dependent, do not mix and match the shots. * Oral polio no longer administered to anybody. Everyone gets the inactivated polio (IPV) at 2mo, 4mo, 6-18mo, and age 4-6 prior to starting school. * Pneumococcal vaccine was 23-valent, no 7-valent, newer 13-valent (2010). Given at 2mo, 4mo, 6mo, and 1215mo of age. * MMR given 12-15mo age. Booster at 4-6yo prior to starting school. * Varicella given 12-18mo age as one vaccine. If older than 11yo give as two vaccines, 4 weeks apart. * Rotavirus shot or oral given at 2mo, 4mo. * Hepatitis A started after 12mo of age, 2 doses needed at least 6mo apart. Some controversy on need. * Meningococcal vaccine started after 2yo. Give MCV for those at high risk, such as persistent complement deficiency or anatomic/functional asplenia. * Influenza vaccine (seasonal) given annually after 6mo. Now recommended for everyone. * When child gets immunization, you are not automatically protected. It takes a couple of weeks to develop antibodies and get titers up. No vaccine is 100% effective. * If you get pertussis then you don’t really need the pertussis portion of the vaccine. * If you get invasive hemophilus influenzae B before 24mo of age, you still need the vaccination. * Once older than 15mo of age, you only need one vaccination of Hib. No need to get another for catch-up. * Hib should not be given after 60mo of age (5 years of age). * If there is a gap in immunizations, there is no need to start over again. * If patient has HIV, divide into mild versus moderate HIV (asymptomatic) and into severe immunosuppression. * DTaP can be given to any patient with HIV because it is not a live vaccine. * Oral polio should not be given to anyone. Killed polio is alright for HIV. * MMR is recommended for patients with mild to moderate immunosuppression but is not recommended with severe immunosuppression as the vaccine could cause disease. * Hib is recombinant so it is not a problem. Pneumococcal is fine. * Influenza should be given even for severe immunosuppression. * Varicella vaccine should be considered even though it is a live attenuated vaccine. * Adverse side-effects seen with DTP are local redness, local swelling, local pain, fever > 38ºC (100.4F), drowsiness, fretfulness, anorexia, vomiting, crying > 3hrs. Fever is very common with DTP prior to DTaP. * MMR side effects do not occur right away, they occur about 7-10 days after vaccination. * Measles component can cause fever and measles-like rash. Mumps can cause swelling. Rubella can cause arthralgia and adenopathy. * MMR side effects include febrile seizures and reversible encephalopathy. * Pregnant women should not get the MMR vaccine due to congenital rubella risk. If the women is pregnant and has a child at home, the child at home can get the MMR vaccine because it is attenuated and even if they shed the virus the mother is immune-competent so will not get the disease. * Delay getting MMR if gamma-globulin or immune-globulin was given in the past 3 months as this would decrease the effect of the vaccine. * Contraindications to MMR include anaphylaxis, immunodeficiency (cancer, leukemia), severe HIV immunosuppression, chemotherapy, radiation therapy. * There is no proof that the MMR vaccine causes autism. Autism is usually picked up before 30mo of age so it is usually diagnosed around the time of the MMR vaccine, a coincident. Get children immunized. * Hib side effects include local swelling, fever, invasive Hib disease under 2yo does not confirm immunity. * Pneumococcal vaccine given to prevent meningitis, not otitis media or sinus infections. * Influenza side effects are redness, tenderness, swelling, mild flu symptoms, now recommended for everyone. Prior recommendation were chronic lung disease, health care workers, hemoglobinopathies, etc. * Meningococcal vaccine is recommended if traveling to endemic area, does not cover all serotypes. * HepB vaccine given because there are 5,800 deaths per year from HepB plus 300,000 new cases per year and about a million carriers. The younger you are to get hepatitis, the greater the risk of liver failure later on. --------------------------------------------------------------------------------------------------------------------------------------------

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Study Notes – Pediatrics

James Lamberg

28Jul2010

Fever * 5mo infant presents with 39ºC fever. Mother states child is less active and has a decreased appetite. On physical exam, no focus of infection can be found. This is a common dilemma for the pediatrician. * Definition of fever is temp > 38ºC (100.4ºF) rectally. * Fever of short duration without localizing signs is short duration. Fever without focus is less than a week in duration in children less than 36mo of age. Fever of unknown origin, a specific diagnosis meaning fever > 14d in child and > 21d in adolescent or adult. * Fever without focus occurs in about 5% of children less than 36mo of age. * Babies are immuno-naïve. They are at higher risk to develop many infections, septic arthritis, meningitis, sepsis. * Children under 24mo are at very high risk for infection. Sometimes not very specific signs of symptoms. * Organisms that may be responsible are group B strep, E. coli, listeria. Others include salmonella, neisseria. * Most common cause of fever in children (and adults) is viruses. * Children older than 3mo of age with temps > 38.9 (102) are at risk for fever without a focus (occult bacteremia). * We can get bacteremia by brushing our teeth, but we clear it easily. * What should you order on these patients? CBC with differential and smear. May see Döhle bodies on a smear. * Risk factors for occult bacteremia include age < 24mo, fever > 104, WBC > 15000. * Order CBC and blood culture first. May toss in urine. Culture any suspicious lesions. * If child has sickle cell disease, be suspicious for pneumococcal infections. * Risk factors also include AIDS, immunodeficiencies, sick contacts, toxic clinical appearance and petechia. * All infants less than a month age with fever and suspicion for infection should be admitted to the hospital and started on antibiotics. If cultures are negative, then consider stopping antibiotics. * If less than a month of age, cover group B strep, listeria, E. coli, meaning start ampicillin and 3rd generation cephalosporin or ampicillin and an aminoglycoside. * Children > 1mo of age who appear well and have been in good health are unlikely to have serious illness if their counts are between 5-15000 and absolute band count less than 1500. You may give ceftriaxone (or cefotaxime plus ampicillin) if they appear well without a source for the fever while waiting for cultures. If they appear ill, admit. * Third generation cephalosporins to no cover listeria well so ampicillin is given. * Follow up with a phone call, have the child come back, check cultures. * 18mo child presents with temperature of 39ºC, the patient is alert and happy. The mother states that the child has been eating well, has good urine output, and has no evidence of localized infection. * Most common organism for occult bacteremia is strep pneumonia in this age group. * Blood culture should be performed whenever you suspect occult bacteremia. Count > 15000 is high risk for having a positive blood culture. * Without therapy, occult bacteremia may resolve spontaneously in this age group or lead to localized infection such as meningitis or septic arthritis. * Non-toxic patients get empiric therapy with third gen cephalosporin and follow-up. * Toxic patients should consider spinal tap, start antibiotics, admit. * If positive blood culture and child looks better, may not need to treat further. -------------------------------------------------------------------------------------------------------------------------------------------Meningitis * 6yo presents to the ED with fever, headache, vomiting, neck ache, and photophobia. Physical exam reveals an illappearing child unable to flex his neck without pain. Kernig and Brudzinski signs are positive. * 6mo cannot have Kernig, Brudzinski, complaints of neck pain. * In infant, may get neck rigidity but best sign is bulging fontanelle. Examine fontanelle while child sitting up. * Meningitis is inflammation of leptomeninges. Bacterial meningitis is usually from hematogenous spread. * Neonates get group B strep meningitis. Anyone 2mo and up you should think about strep pneumonia. * Neisseria meningitidis is common in any age group. Scenario is college student in dorm or military recruits. * Risk factors for meningitis are splenic dysfunction, asplenia, meningomyelocele, day-care. * Patients with sickle cell disease specifically think about pneumococcus for meningitis. * Pneumococcus also seen with facial trauma leading to CSF leak. * Patients with ventriculoperitoneal (VP) shunts you should think staph. * Patients who are immunocompromised, all bets are off. Could be anything including pseudomonas. * Infants can just be irritable, restless, and feeding poorly, may have a fever or not. * Older children can have fever, headache, neck pain, photophobia, vomiting. * Purpuric lesions seen with DIC, not pathognomonic for meningococcus. If it is meningococcus, the lesions can be scraped and cultured. Pneumococcus can cause DIC as well.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* CSF pyogenic: 200-5000 cells, PMNs, low glucose, high protein, high lactic acid, high pressures. * CSF partial treated: same as pyogenic but mostly PMNs, possibly negative cultures. * CSF granulomatous: 100-600 cells, lymphocytes, low glucose, high protein, high lactic acid, high pressure. * CSF aseptic: 100-700 cells, PMN to lymphocytes, normal glucose, slightly high protein, normal LA and pressure. * CSF neighborhood reactions: 100-500 cells, variable type of cells, normal glucose, variable protein, normal lactic acid, variable pressure. * Low glucose in CSF (hypoglycorrhachia) is related to blood sugar. Normal CSF glucose is 1/2 to 2/3 of simultaneous blood sugar. * High protein in CSF is 45 and above. Pre-term infants can get up to 100-140 for normal. After 3-5mo, use 45. * Granulomatous implies tuberculosis meningitis. Acid fast bacilli will not show on Gram stain but will culture. * Neighborhood reaction means another infection in the brain, e.g. abscess, causing meningeal irritation. * Meningitis treated with antibiotics and supportive care. Corticosteroids given if suspected Hib to decrease hearing loss. No major benefit shown, but if steroids given otherwise they should be given prior to antibiotics. * Aseptic meningitis occurs in the summer and fall, usually viral. * Sometimes bacterial meningitis CSF will not grow if patient is partially treated with antibiotics. * Treatment for aseptic meningitis is supportive, unless patient has herpes simplex meningitis then give acyclovir. * 4wk old presents with suspected meningitis, tap shows 15 cells, worry about herpes simplex meningitis. * Complications include death, neurologic complications are common such as hearing loss, mental retardation, seizures, developmental impairment, behavioral problems, hydrocephalus, ataxia, palsy, stroke, herniation, effusion. * Patient with meningitis is treated and spikes a fever a week later. Do a CT of the head looking for sub-dural effusions. These are common with Hib. * Other complications during the disease include SIADH. * DDx includes toxins, ingestions, malignancies. * Prevention is via immunizations, treating close contacts with rifampin if they’ve had H. flu or neisseria exposures. -------------------------------------------------------------------------------------------------------------------------------------------Encephalitis * 10yo presents with fever and altered mental status. The parents state that over the past 24h the patient has been extremely combative. There is no evidence of trauma or drug intoxication. * Encephalitis has more disorders of mental function than meningitis. Look for combative and hallucinations. * Encephalitis usually caused by arbovirus. Saint Louis encephalitis is spread by birds. California encephalitis is spread by rodents and mosquitoes. Western Equine carried by mosquitoes and birds. Eastern Equine carried by mosquitoes and birds. Colorado Tick Fever carried by ticks. West Nile by mosquitoes and birds. * Presentation is similar to aseptic meningitis but more confusion, delirium, combative, hallucinations. * History is important. Always ask about exposure to persons or animals, mosquitoes in the area. * Immunofluorescence testing, ELISA testing, IgM testing can be done. CSF may not show a lot. * If testing is needed, do polymerase chain reaction (PCR) on the CSF. Do not do brain biopsy. * MRI or EEG can be done. If anything is seen remotely close to the temporal lobe then think HSV and put them on acyclovir. Treatment is supportive. * Differential includes toxins, trauma, hypoglycemia, Reye syndrome, inborn errors of metabolism. * Post-infectious encephalitis can occur after MMR vaccine. Rarely trypanosomiasis and malaria. -------------------------------------------------------------------------------------------------------------------------------------------Osteomyelitis * 12mo infant presents to the physician with a chief complaint of refusal to bear weight on his left lower extremity. The mother states that the child had an ear infection one week ago. The patient was prescribed antibiotics but the mother states she did not fill the prescription. * Osteomyelitis in children usually occurs from hematogenous spread, but can occur from contiguous spread from surround cellulitis or via direct inoculation from penetrating wounds. * Osteomyelitis seen in boys twice as often. Most common organism is staph aureus, so always cover staph. * Group B strep and Gram negative bacilli are important pathogens especially in the neonate. * Patients with sickle cell disease most commonly get staph aureus, but salmonella is second most common. * Pasteurella multocida is common if there is a dog bite. * Pseudomonas seen with puncture wounds as pseudomonas lives in the foam of the sneaker. Nail goes through shoe, picks up pseudomonas from foam, then inoculates your foot. * Infants usually do not have systemic signs but will have pain on movement of the extremity. * Older children will have fever and complain of pain in the affected area. Will refuse to bear weight, decreased range of motion, physical exam will have cardinal signs of inflammation (calor, dolor, tumor, rubor).

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Hip pathology refers pain to the knee. * Lab tests to order include CBC, C-reactive protein, sed rate, blood cultures (positive 60% of time). * Sed rate is a non-specific test, just tells you there is inflammation as it is an acute phase reactant. * Sed rate is useful later for following treatment of disease. * Bone culture is the best test as it will tell you the organism. X-ray is helpful but may not be positive initially. * X-ray takes about 10-14 days to show periosteal elevation. More sensitive test is bone scan. * Treatment is based on cultures, but cover staph initially. Treat for 4-6 weeks of antibiotics. -------------------------------------------------------------------------------------------------------------------------------------------Septic Arthritis * 5yo presents with fever, knee pain, limp. Physical exam shows knee is red, warm, and swollen with limited range of motion. The knee is exquisitely painful on exam. * Septic arthritis is an infection of the joint space. If you suspect this, it is an emergency to be treated. * In newborns, think staph, group B strep, Gram negative bacilli. * Up to 5yo, think staph and strep. Hib if history if incomplete immunizations. * Patients > 5yo is likely Gram positive cocci (staph). * Spread is likely hematogenous, but can be from cellulitis or direct inoculation or from osteomyelitis. * Look for acute onset of fever and refusal to bear weight on the extremity with decreased range of motion. * White count and sed rate are elevated and non-specific. Test of choice is arthrocentesis, joint aspiration. * Ultrasound is useful for hip fluid, but best test is tapping the joint. * Treatment is antibiotics depending on culture and sensitivities. Length of treatment is less than osteomyelitis. * DDx includes overlying cellulitis, rheumatic fever, juvenile rheumatoid arthritis, toxic synovitis (history of preceding viral infection particularly varicella). Always consider leukemia. * 1/4 of acute lymphoblastic leukemia (ALL) will present with joint pain or bone pain. -------------------------------------------------------------------------------------------------------------------------------------------Tuberculosis * 10yo child is referred from the school nurse because of a positive tuberculin test. The patient has been doing well without any complaints. * TB caused by mycobacterium tuberculosis, an acid fast bacilli. * Risk factors include elderly, immigrants, and patients with AIDS. * More common in crowded societies and those with lower socioeconomic status, but can affect anyone. * Congenital TB is transferred across the placenta but is rare. Most infections due to aerosol droplets. * Most children are less infective than adults due to decreased cough in comparison with adults. * A healthy host will wall off the organism, causing a Ghon focus. Ghon complex has associated lymph node. * Primary pulmonary TB is usually asymptomatic in children. Symptomatic patients have malaise and low grade fever. Progressive pulmonary TB can cause broncho-pneumonia. * PPD is cheap so do one in any child with pneumonia. * Some patients will have fever, weight-loss, night sweats, hemoptysis (classic symptoms). * Upper respiratory tract TB can involve the larynx and middle ear, persistent coughing, hearing loss. * CNS infection can cause meningitis. * Bone and joint disease can lead to Pott disease in the vertebral bodies, causing kyphosis and scoliosis * Best test for diagnosis is the interferon-gamma release assays (IGRAs, QuantiFERON Gold). Previously it was the intradermal PPD test. Tine test no longer used. * PPD reaction greater than 5mm induration (not redness) is positive if TB exposure or HIV. * PPD in health care workers or other adults look for reaction greater than 10mm induration. 15mm for low risk. * BCG vaccination can lead to a false-positive PPD. If positive, you need an x-ray. * Read PPD test at 48-72 hours after placement. May see upper lobe infiltrates in older children on CXR with TB. * Children will not be able to produce sputum for you, so won’t be able to do cultures unless intubated. So, test to do is an early morning gastric wash aspirate. Put NG tube when they wake up and suck it out. During the night the child coughs up sputum and swallows it. * Treatment is isoniazid (INH), rifampin, pyrazinamide, ethambutol, streptomycin. Worry about multiple-drug resistance in children. If just turned positive with CXR, 9-months of INH. * With actual TB disease, put on multi-drug therapy. * INH side-effects include hepatotoxicity (more common in adult) and neuritis secondary to pyridoxine deficiency. Give vitamin B6 (pyridoxine) with INH. * Rifampin can change body secretions orange or orange-red. Contact lenses can get discolored. It can also cause hepatotoxicity and thrombocytopenia.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Pyrazinamide is hepatotoxin. Streptomycin is ototoxic and nephrotoxic. * Ethambutol is ocular toxic, usually not recommended in children when you cannot do ocular exams. * It mother has TB at delivery, separate infant from mother until CXR taken. If CXR positive for mom, then keep infant separate from mother until sputum checked for acid fast bacilli. If evidence of disease, begin therapy and place infant on INH. Now they are both being treated so no need to separate. * Separation of mother from child only recommended if mother hospitalized for TB or drug-resistant TB. * In children, progression of disease is more common in the first year of infection and in children < 5yo. * Reactivation is common in adolescence, especially in the apical segments of the upper lobes. * Patients with reactivation will have classic fever, night sweats, hemoptysis. * Miliary TB is hematogenous spread throughout the entire lung. * TB meningitis can occur within 6mo of the primary infection. * Prevention of TB is to treat those infected to prevent spread. BCG not commonly used in the U.S. * Active of untreated TB is a contraindication to nursing. -------------------------------------------------------------------------------------------------------------------------------------------Pertussis * 10mo child who is delayed in immunizations presents with paroxysmal cough. The patient appears ill and continuously coughs throughout examination. The patient has facial petechia and conjunctival hemorrhages. In addition, the patient has post-tussive emesis. * Pertussis cough is continuous coughing until only residual volume left, then quick deep gasping inspiration. * Complications include pneumothorax. * Deep inspiration at end of coughing is a whoop, which is why pertussis also called whooping cough. * Caused by Bordetella pertussis. Usually does not occur less than 3mo of age. * Incubation period is 3-12 days. Children are at higher risk under 5yo. Look for history of incomplete vaccination. * Infants do not have typical cough and may present with apneic episodes. * Children have cough and can get cyanosis. * Stages of pertussis are catarrhal stage, which is like the cold lasting 1-2 weeks with rhinorrhea and conjunctivitis. Classic cough seen in paroxysmal stage, lasting 2-4 weeks, also facial petechia due to burst capillaries from high pressures of cough. Convalescent stage lasts 1-2 weeks, continued coughing spasms but are decreasing. * Physical exam may show conjunctival hemorrhages due to forcefulness of the cough. Lungs likely are clear. * Other symptoms can be fever, hoarseness. Wheezing, rales usually absent. * CBC for pertussis will show elevated WBC with lymphocytosis; leukocytosis with lymphocytosis. * Culturing Bordetella pertussis is the best way to diagnose. * Direct fluorescent antibodies from direct nasal washes can be done, but culture is best. * The higher the WBC > 30,000 the greater the likelihood of finding a CXR infiltrate. * Treatment consists of supportive care. Coughing with apnea spells could mean intubation and ventilator. * Erythromycin is given but it does not change the course of the disease. It make them less contagious. Also, treat household contacts with erythromycin. * Immune globulin is not recommended. Consider vaccinating anyone who is not or may need a booster. * Complications include apnea, pneumonias, atelectasis, pneumothorax from plugging/coughing, seizures, encephalopathy due to neurotoxicity, and death. -------------------------------------------------------------------------------------------------------------------------------------------Cat Scratch Fever * 6yo presents with a sore, swollen, erythematous anterior cervical lymph node. He denies fever, chills, night sweats, or sore throat. The patient’s pets include a kitten, turtle, and goldfish. * Turtles (reptiles) can give salmonella. * Cat scratch caused by Bartonella henselae. Cat scratch disease from biting or scratching, kitten transmit the disease better than cats do. * Range for incubation is 3-30 days so cat exposure may have been forgotten. * Inoculation site starts with red papule, then will become a linear row of papules with regional lymphadenitis. * Lymphadenitis usually noted around 1-4 weeks, nodes can remain enlarged for up to 2 months. * Patients can have fever, headaches, anorexia, malaise. * Parinaud oculoglandular syndrome is unilateral conjunctivitis, preauricular lymphadenopathy +/- cervical lymphadenopathy can sometimes occur from rubbing eye after contact with cat. * Exam is relatively normal except for enlarged lymph node(s). * Regular labs are not helpful. Best test is to aspirate the node and do a Warthin-Starry silver stain. * Cat scratch disease usually resolves on its own in 2-4mo. Remove node if painful, send to pathology.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Treatment can include macrolides (azithromycin, clarithromycin). * Complications include encephalopathy, seizures, altered mental status, macular retinopathy. * DDx includes lymphoma, lymphadenitis, TB, mononucleosis. -------------------------------------------------------------------------------------------------------------------------------------------Lyme Disease * 6yo child presents with a rash after camping in Long Island with his family. On physical exam the rash has a red raised border with central clearing. * Lyme disease caused by Borrelia burgdorferi from the Ixodes dear tick, a very small tick. * Stage I is erythema migrans rash with central clearing, bull’s eye rash, erythema chronicum migrans. * Erythema migrans occurs 3-32 days after the tick bite. Usually it is 7d after bite, malaise. * Stage II is early disseminated disease, neuro and cardiac involvement like aseptic meningitis, Bell palsy, neuropathy, AV heart block. * Stage III is arthritis. * Diagnostic test with history of tick bite and/or rash, get antibody titers to Borrelia. * Treatment of stage I is doxycycline or amoxicillin. Children < 8yo should not get doxycycline, few exceptions. Other options are erythromycin or cefuroxime. * Treatment of stage II is ceftriaxone or penicillin G. Stage III treatment is same as II but treat longer. * Vaccine exists for Lyme disease but not given to everybody, only in endemic areas. -------------------------------------------------------------------------------------------------------------------------------------------Erythema Infectiosum * Erythema infectiosum also known as fifth disease and slapped cheek fever. Fifth disease because if was the fifth rash disease to be described. * 4yo is bought to the physician’s office because she developed red cheeks that appears as if someone slapped her. She has a lacy rash on her upper extremities and trunk. * Erythema infectiosum is caused by parvovirus B19, human transmission through respiratory secretions. * Incubation period is 4-28 days. * After slapped-cheek sunburn-like rash, child develops a lacy reticular rash. At this point the child is not contagious so they can go back to school. * Parvovirus B19 can cause aplastic anemia. If mom is pregnant and around someone with parvovirus B19 she can get hemolysis or aplastic anemia leading to hydrops fetalis. * No need for treatment. IV Ig is given if immunocompromised. -------------------------------------------------------------------------------------------------------------------------------------------Measles (Rubeola) * Mother presents to physician with her adopted daughter who has just arrived to the United States from a foreign country. The immunization record is not up to date. The child has coryza, cough, conjunctivitis, and fever. The mother states the child has a rash that began cephalad and spread caudad. On physical exam, a morbilliform rash is seen over the body including the palms. Tiny grayish white dots are seen on the buccal mucosa next to the third molar. The dots are Koplik spots. Coryza is “head cold” symptoms, like runny nose. * Measles caused by a paramyxovirus. Can also be seen in high school or college students, which is why you need to be re-immunized. Either the virus has changed or vaccine is no longer effective. * Look for “hard K sounds”: cough, coryza, conjunctivitis, Koplik spots. * Koplik spots are only present for about 12 hours. If you see them, you can predict that the child will break out in a rash soon. Patient will have a fever at the same time as the rash. * Diagnosis is made clinically, but you can get rubeola titers seeing a rise in convalescent titers. * Multinucleated giant cells may be seen from nasal mucosal smears during the prodromal stage. * Treatment is supportive. Vitamin A is recommended for some children, particularly those with malnutrition, malabsorption, Vitamin A deficiency (e.g. developing countries). * Rash is erythematous, macular, somewhat coalescing, goes from head to toe and leaves from head to toe * Immunization helps prevent disease. Immune globulin can be given within 6 days of measles. * These children look sick and feel miserable. * Complications include otitis media (most common), pneumonia (common cause of death), seizures, encephalitis. * DDx includes rubella, roseola, scarlet fever, Kawasaki disease, and drug rashes. -------------------------------------------------------------------------------------------------------------------------------------------Roseola (Exanthema Subitum, Sixth Disease) * 15mo infant is brought to the physician because of a rash. The mother states the child had a rash of 104F for the past three days without infection. The fever has resolved since but the child has lesions on the trunk that are slightly

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Study Notes – Pediatrics

James Lamberg

28Jul2010

pink over the upper extremities, face, and neck. * Rubeola is known as 9-day measles and rubella is known as 3-day or German measles. * Key point for roseola is that the fever goes away and then the rash appears, clinical diagnosis. * Rubeola: Fever and rash together (B for Both). Roseola: Fever first then rash after (S for Second). * Roseola occurs in children usually 6-18 months of age, caused by HHV-6 or HHV-7. * Will have very high fever, possibly febrile seizure. * Rash is rose-colored and there is no fever with the rash. DDx is other rash diseases. -------------------------------------------------------------------------------------------------------------------------------------------Rubella (German Measles) * 5yo child with delayed immunizations presents with low-grade fever, pinpoint rash, post-occipital and retroauricular lymphadenopathy, and rose-spots on the soft palate. * Child who gets rubella likely won’t have problems, compared with many complications seen in congenital rubella. * Rubella caused by RNA togavirus virus. “Rub my toga”. * Incubation period is 2-3 weeks. Contagious 2 days prior to rash starting and till 5-7 days after rash appears. * Key differentiating factor here is the lymphadenopathy. Posterior occipital and retro-auricular LAD. * Pharyngitis can occur, but generally just rash and lymph nodes. * Rash begins on the face and spreads to the body just like rubeola. Rash is only 3 days (versus 9 days). * Rose spots can occur on the palate, known as Forchheimer spots. * Treatment is supportive, treat the fever and symptoms. * Prognosis is good if you have it, but not so good if you are pregnant. -------------------------------------------------------------------------------------------------------------------------------------------Rocky Mountain Spotted Fever (RMSF) * 17yo presents to the ED with his friends because of a fever, headache, and rose-colored rash that began on his ankles and is spreading. The patient and his friends have been camping in Virginia. * RMSF is a rickettsial disease associated with fever, headache, rash. Caused by Rickettsia rickettsii. * Vector is tick carried by rodents and mammals. * Most lethal and most frequently reported rickettsial disease in the U.S. * Seen in almost every state, more commonly Virginia, Carolinas, Eastern U.S. * Usually non-specific in onset. Can have fever, myalgia, nausea, vomiting, headache. * Rash begins distal and moves proximal to trunk. Will include the palms and soles. Lesions can be purpuric. * History of exposure to ticks. These are larger ticks, not the mini ones seen with Lyme disease. * Can get convalescent titers, immune fluorescence antibody assays, can see thrombocytopenia, low WBC count. * Treatment is tetracycline or doxycycline. * This is the exception to the rule for using tetracycline under 8yo, don’t worry about the teeth coloring. * Chloramphenicol is very rarely used, avoid if possible. * Complications include death, gangrene of the digits, earlobes, scrotum, nose, or entire limbs because of vasculitis. Can cause meningoencephalitis. * DDx includes meningococcemia (with DIC), Henoch-Schönlein purpura. * No vaccines exist so avoid ticks. -------------------------------------------------------------------------------------------------------------------------------------------Varicella (Chicken Pox) * 5yo child is brought to the ED because he has a temperature of 102F and is developing a pruritic rash. The rash appears to be in various stages of papules, vesicles, and crusts. It began on his trunk and spread to his extremities. * Varicella is spread by respiratory secretions. * Varicella zoster (shingles) is the latent form of disease, which reactivates and goes across dermatomes. * Chicken pox infection is via other children or via someone with zoster. * Varicella is about 2 weeks in incubation but can range from 10-21 days. * Patient may have few symptoms, low-grade fever then break out in a rash. * Patient is contagious starting from 1-2 days prior to rash up until every single lesion is crusted (about a week). * Exam will show classic lesions of macula, papule, vesicle, pustule, crust. They come in waves. * Sometimes the lesions can be hemorrhagic. * Treatment is supportive. Can give varicella immune globulin to high risk patients such as immune compromised. * Most common complication is scaring from scratching and getting secondary infections, like impetigo from group A beta-hemolytic strep. * Adults and neonates get the disease worse. Can have pneumonias, neurologic sequelae (e.g. Guillain-Barré), encephalitis, cerebellar ataxia. Adults and neonates are at higher risk for pneumonitis.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Patient comes in with gait disturbances, look for history of recovering from varicella. * DDx includes vesicular rashes (e.g. herpes, insect bites, staph). Get vaccinated. -------------------------------------------------------------------------------------------------------------------------------------------Scarlet Fever (Scarletina) * 7yo complains of a headache and sore throat. Physical exam shows temp of 103F, 3+ tonsils (large) with exudate, and a strawberry tongue. In addition he has circum-oral pallor and a sandpaper rash on his face, trunk and upper extremities. Dark red Pastia lines on the skin are noted. * Scarlet Fever is caused by group A beta-hemolytic strep. * Usually have with a sore throat pharyngitis. Can follow wounds, burns, streptococcal skin infection. * Abrupt onset of fever, chills, headache, sore throat. Can have abdominal pain due to mesenteric lymphadenitis. Can have vomiting, may look like appendicitis. Can have a rash in the axilla, groin, neck, which spreads. * Strawberry tongue, circum-oral pallor, and erythematous blanching feels-like-sandpaper rash. * Tonsils can be large and can peel, like in Kawasaki. * Quickest test is strep screen. Throat culture is better test. * Treatment is penicillin. Erythromycin, clindamycin, or cephalosporins can be used. * Complications include bacteremia, sinusitis, otitis media, osteomyelitis, cervical adenitis. * Rheumatic fever and glomerulonephritis can occur as well. * DDx includes roseola, but Scarlet Fever is rare in infancy. Seen in 5yo and older. -------------------------------------------------------------------------------------------------------------------------------------------Mumps (Parotitis) * 4yo unimmunized child presents with fever and unilateral parotid swelling. * Mumps caused by a paramyxovirus. Other virus causes parotitis, but talking about mumps virus here. * Spread by airborne droplets and saliva. Seen in the winter and spring. History of incomplete immunizations. * Patient contagious 1 day before swelling starts until 3 days after swelling starts. * Incubation period it about 2-3 weeks. * Presents with fever, headache, muscle pain, malaise, all non-specific. Then, they develop the parotitis. * If you look in the mouth (wearing a glove), you may be able to milk some stuff from the Stensen duct. * Pickle test is having patient drink something sour, which will cause pain due to increased salivation. * Occasionally there may be orchitis in males. * Diagnosis is usually clinical. Can see elevated serum amylase. Can culture virus in urine or CSF. Can do acute convalescent titers to see antibodies increase. * Treatment is supportive. Orchitis occurs in pubertal males, almost always unilateral. * Complications include meningoencephalitis (most common), otitis, infertility is rare. * DDx includes HIV, CMV, coxsackie virus, other parotitis viral forms, salivary calculus. -------------------------------------------------------------------------------------------------------------------------------------------Acquired Immune Deficiency Syndrome (AIDS) * 18mo has failure to thrive (FTT) and developmental delay. Patient has history of recurrent ear infections, oral thrush, and chronic diarrhea. On exam today, there is lymphadenopathy. * AIDS caused by HIV. Majority of cases are infants born to mothers with HIV. Adolescents is the second group of children who get HIV, acquired the same way that adults get it. * Congenital transmission has been decreased immensely by treating mothers with zidovudine (antiretroviral). * Most children at birth look normal, but over time will develop FTT and recurrent infections. * Any child with lymphoid interstitial pneumonia should be considered to have HIV until proven otherwise. * Rarely, hepatosplenomegaly and recurrent bacterial sepsis. * Diagnosis is with ELISA and Western blot. Most common is Western blot, best test is PCR. * Children born to HIV-positive mother can be positive for up to 18 months before they turn negative. * DNA polymerase chain reaction is the preferred testing method for infants in developing countries. * HIV culture is not recommended for infants less than 1 month due to false positive results. * HIV disease in children > 18mo can be excluded if 2 antibody tests are negative, no hypogammaglobinemia, and no clinical evidence of HIV. * Treatment is the same as in adults. Aggressively treat secondary infections. Be aggressive with nutrition. -------------------------------------------------------------------------------------------------------------------------------------------Mononucleosis (Mono, “Kissing Disease”) * 17yo presents with fever, fatigue, and headache. He also complains of sore throat and left upper quadrant pain. On physical exam he is noted to have generalized lymphadenopathy, enlarged tonsils, and hepatosplenomegaly. * Epstein-Barr virus (EBV) causes mononucleosis and is spread by saliva and intimate contact.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* May be asymptomatic as infants. More common in adolescents, flu-like symptoms for a couple of weeks. * Physical exam can be pharyngitis (very bad looking), * Up to 1/3 of patients can have a positive strep screen. If you treated this with penicillin and they broke out in a rash, think about mononucleosis. This is an ampicillin (and amoxicillin) rash and is precipitated about 99% of the time, virtually diagnostic. * Helpful test is CBC with atypical lymphocytes (Downey cells). Mono spot test (heterophile antibody test) is for screening. With acute infection, heterophile antibodies are produced. Can also do EBV titers. * Treatment is supportive care, avoid penicillin drugs (rash reaction). Avoid contact sports for 2-3 weeks to allow for the spleen to reduce in size (preventing rupture). * DDx includes group A beta-hemolytic strep infection. * Can get high WBC count with thrombocytopenia, consider leukemia. -------------------------------------------------------------------------------------------------------------------------------------------Influenza Virus & Adenovirus * 14yo is seen by his physician because of fever, headaches, myalgia, chills, and cough. * Every year this is a wave of influenza, vaccines developed based on yearly serotypes. * Types A and B are responsible for epidemics. * Older children present like adults with typical symptoms. Can get flushed face, myalgia, cough, chills for 2-5 days, nasal congestion and cough for 4-10 days. Younger children do not get as much influenza, but can have symptoms of laryngotracheitis or bronchiolitis or upper respiratory infections. * Diagnosis from nasal swab or nasopharyngeal washes, can do immunofluorescence antibodies. * Treatment is amantadine and rimantadine for serious cases, usually don’t help much. Antivirals have to be given very early and usually by the time the patient gets to the doctor it is too late. * Influenza treatment is generally supportive. * Worry about secondary bacterial infections. Hard to differentiate flu from other viral infections. * With adenovirus, patient presents with fever, sore throat, and conjunctivitis. Usually seen in the spring and summer. Incubation period is 2-14 days. Can cause diarrhea. Look for pharyngitis, rhinitis, conjunctivitis. * Can do nasal washes for adenovirus, can do fluorescence antibodies and cultures. * Adenovirus treatment is supportive. -------------------------------------------------------------------------------------------------------------------------------------------Hand-Foot-Mouth Disease (Coxsackie A Virus) * 2yo presents with a vesicular rash in his mouth and on his palms and soles. Mother states he has a rash on his buttocks. * With hand, foot, and mouth disease there are blisters on an erythematous base. Lesions can be anywhere. * Incubation period is 4-6 days, usually in the summer and fall. Epidemics in 3-year cycles. * Diagnosis is clinical. Treatment is supportive care. -------------------------------------------------------------------------------------------------------------------------------------------Pinworm (Enterobiasis) * A mother brings her 4yo child to the physician with a history of anal itching. The patient attends daycare and you are told the child’s favorite activity is playing in the sandbox. * Enterobiasis is the most common parasitic infection of children in temperate climates. * Worms are white and at most 1cm in length. * Will have nocturnal anal pruritus. Female worms go to anal region and lay eggs usually at night. Child will constantly re-infect because the scratch their butts (stick eggs) and touch their faces, eat with hands, etc. * Diagnosis is via microscopic examination of worms or eggs. Can get stool for ova and parasites. * Can get eggs from a tape test (Scotch tape test). Put tape on child’s anus prior to bed, remove tape in the morning and examine under the microscope for eggs. May be able to see worms at night in anal cavity. * Complications include excoriations from scratching. * Can get a massive infestation with pinworms in the appendix. * Almost all parasites cause eosinophilia. Enterobiasis is an exception, no eosinophilia. * Treatment is for infected/symptomatic individuals but consider for whole family. May need to repeat the treatment. Treatment with benzimidazole compounds like albendazole and mebendazole. -------------------------------------------------------------------------------------------------------------------------------------------Roundworm (Ascaris Lumbricoides) * Infant is brought in because the mother found a worm in the diaper. * Ascaris is found in warm climates, transmitted from soil when using human feces as a fertilizer. Fecal oral. * Larva are ingested and they penetrate the intestinal wall. They work their way up to the lungs via circulation. Then

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Study Notes – Pediatrics

James Lamberg

28Jul2010

they break through lung tissues, which can cause hemoptysis and Löffler (Loeffler) syndrome. The worms then crawl up the tracheobronchial tree, you cough to clear throat, and swallow. Now the adults are living in your GI tract. They do not attach, just swim against the peristaltic wave. * Children can have colicky abdominal pain, bile-stained emesis, pulmonary ascariasis (cough, blood-stained sputum, pulmonary eosinophilia). * Best test is stool studies for ova and parasites. May see the worm in nose/mouth or in stool. * Treatment is albendazole, pyrantel pamoate, or mebendazole. Piperazine better for intestinal obstruction. -------------------------------------------------------------------------------------------------------------------------------------------Scabies (Sarcoptes Scabeii) * Mother brings her 3 children to you because they have a pruritic rash that has been present for the past three months. Mother states that she and her husband have a similar rash that began in the webs of the fingers. The itching has spread to the wrist, elbows, and axilla. * Children get it more than adults. In older children and adults it does not affect the face. Usually neck down. * Hallmark sign is itchiness. Burrow is characteristic lesion as mite digs under skin, more common in adults than in children and can be seen in webs of fingers or toes. * Infants present with rash, may be vesicular like atopic dermatitis. Unlikely that 3 kids get atopic dermatitis at the same time, much more likely that they have scabies. * Children may not get burrows but get vesicles, pustules, scabs. May affect face in infants. * Diagnosis is clinical, but can scrape the skin at a vesicle and look under a microscope for eggs or mite. * Treatment is permethrin or lindane cream, cover entire body and keep on overnight. Do not use lindane in small children due to neurotoxicity. Children under 6mo can use a sulfur petrolatum mixture. Treat everybody. Can give antipruritics too, like antihistamines. * Complications include impetigo or secondary skin infections due to persistent scratching. -------------------------------------------------------------------------------------------------------------------------------------------Lice (Pediculosis) * The school nurse refers a first grade child to you because of nits in the child’s hair. * Lice are obligate parasites of the human. They affect body, head, pubic. * Risk factors include poor hygiene. Pubic lice is transmitted via sexual contact. Body louse hardly every seen in children. Most common is head lice. * Hallmark sign is itchiness. Exam will show nits (eggs) and possibly louse. The lice like to stay close to the scalp, so if a nit is at the end of long hair it means you’ve had it for a very long time, likely an empty egg. * Treatment is permethrin for body lice, also kills the nits. Petrolatum (petroleum jelly) for eyelashes. -------------------------------------------------------------------------------------------------------------------------------------------Hookworm (Necator Americanus, Ancylostoma Duodenale) * 5yo presents with complaints of anorexia, abdominal pain, and diarrhea. The patient is noted to have a yellowgreen pallor. * Hookworm is a helminth and can cause blood loss. Hookworm attaches (unlike ascaris) and can suck blood, up to half a mL per day per organism. * Hookworms found in warm moist soil especially in rural areas. Wear shoes. They penetrate through the skin or can be ingested. Eventually attach to the wall of the intestine. * Can have itch at penetration site. Can have abdominal pain or fullness with larger infections, diarrhea. * Yellow-green pallor is known as chlorosis, “green sickness”, this is hypochromic anemia. * Best test is stool for ova and parasites. * Treatment is mebendazole or albendazole. -------------------------------------------------------------------------------------------------------------------------------------------Other Parasites * Rectal prolapse seen in Trichuris trichiura (whipworm). * Cutaneous larva migrans (CLM) seen in Ancylostoma braziliense, “creeping eruption”. From dog stool. Causes intense itching but is self limiting. -------------------------------------------------------------------------------------------------------------------------------------------Fungal Infections: Topical * Newborn is noted to have white plaques on his buccal mucosa that are difficult to remove. * Oral thrush is caused by candida. They look like milk curds, but will not scrape off. * Candidiasis can affect the diaper area with erythema and satellite lesions. * Scraping candida plaques with KOH prep will show hyphae on microscope. * Candida occurs in infants because they like a dark, warm, moist place (mouth, diaper area). Can also occur in the

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Study Notes – Pediatrics

James Lamberg

28Jul2010

immunocompromised and in patients taking steroids. * Have patient rinse their mouth and spit or swallow to help prevent oral thrush. * Candidiasis can be painful. Diagnosis is clinical but can do KOH prep. * Topical nystatin used, “swish and swallow”. Oral fluconazole can be used. Topical nystatin for diaper area. * School nurse refers a student to you because of an annular rash with scaling and central clearing. Other members of the child’s family have similar lesions. This is tinea corporis. * Tinea corporis affects the skin but excludes the palms, soles, and groin. * Tinea cause by Trichophyton rubrum, Trichophyton tonsurans, Trichophyton interdigitale and/or Trichophyton mentagrophytes, Microsporum canis, and Epidermophyton floccosum. * Usually a rash, not a lot of itching. Annular lesion, ring shaped, called “ring worm” but not a worm. * Diagnosis is clinical, can do KOH prep. Tinea corporis usually does not fluoresce with Wood lamp, microsporum will fluoresce on Wood lamp. * Treatment is topical. * DDx is pityriasis rosea (herald patch on trunk), seborrheic dermatitis, psoriasis, granuloma annulare. * Child is brought to the clinic by his mother because he has patches of hair loss as well as knots in the back of the scalp. This is tinea capitus. * Tinea capitus is more commonly seen in Hispanics and African Americans. * Tinea capitus caused by trichophyton and microsporum. Microsporum fluoresces. * Usually brought in because of hair loss, alopecia. May be black dot tinea, black dot hair loss, where the hair is broken off right at the scalp so it looks like black dots. * Kerion is a boggy granulomatous reaction to the tinea capitus, not a secondary infection, treat with steroids. * Treatment is with oral griseofulvin. Treat ringworm topically, but if on scalp must treat orally. -------------------------------------------------------------------------------------------------------------------------------------------Fungal Infections: Systemic * 14yo living in the southwest presents with fever, headache, malaise, chest pain, a rash, and tibial erythema nodosum. * San Joaquin Valley fever is caused by Coccidioides immitis, found in the soil in the southwest (AZ, TX). * Inhalation is the mode of transmission, incubation is 10-16 days. * Blood group type B are at higher risk for dissemination. * Usually presents with flu-like symptoms, chest pain, and maculopapular rash. Erythema nodosum can be seen. * Lung exam is usually clear but CXR is abnormal, pleural effusions. * Diagnosis is via sputum examination with culture. * Primary disease is self-limiting, no need to treat. Treat with amphotericin B if severe disease. Treat coccidioides meningitis with fluconazole. * DDx includes TB. Complications include meningitis. * 10yo who had been exploring caves (spelunking) with his friends presents to the physician with flu-like symptoms. Think histoplasmosis. * Histoplasmosis can cause acute pulmonary infection, chronic pulmonary infection, disseminated disease. * Transmitted from soil with nitrates that is heavily contaminated with bird or bat droppings. * Look for a history of being in caves or under/around bridges (e.g. starling-blackbird roosts). * Common in Mississippi, Missouri, Ohio river valleys. * Inhalation transmission. Majority have flu-like symptoms. Chronic disease is opportunistic. Disseminated disease seen in immunocompromised and infants (immuno-naïve). * Fever, splenomegaly, thrombocytopenia with systemic disease. * In non-HIV patients who are immunocompromised you can see fevers, weight loss, interstitial pulmonary disease, ulcers, meningitis. * In HIV positive patients, disseminated disease is fever, weight loss, skin rashes, lymphadenopathy, meningitis. * Acute pulmonary disease will have negative sputum cultures. Can do skin testing, similar to TB, for histoplasma. * Radioimmunoassay is the best testing for disseminated disease. * Treatment if mild is supportive, self-limited. Use amphotericin B for disseminated disease. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Pediatric Immunology with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Immunology: Allergic Rhinitis * 8yo patient comes to the physician because of a runny nose, sneezing, and mouth breathing. The mother states that the patient gets the symptoms every spring when the lilacs start to bloom. Exam is positive for allergic shiners, clear

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Study Notes – Pediatrics

James Lamberg

28Jul2010

rhinorrhea, and boggy turbinates. * This is seasonal or allergic rhinitis. Usually associated with certain periods of the year, but may be all the year. * It occurs after exposure and sensitization to pollens. Can be perennial (spring, summer, then fall). * 5-9% of children will develop seasonal rhinitis, rare before the age of 5yo. * Occurs after inhalation of spores, plant pollens, mite allergens, bug shells, deposited on nasal mucosa. * IgE mediated, causes mast cells to release histamines and other inflammatory mediators. * Patients can have sneezing, watery rhinorrhea, nasal obstruction, nose/eye/palate/ear pruritus, snoring. * Exam will show swollen nasal passages (tend to be pale, bluish). * Allergic salute is when kid rubs their nose upward, flattening it to clear snot, can cause a nasal crease. * Allergic shiners are darkening around the eyes due to venous stasis. * Diagnosis is clinical, order a nasal smear if needed. Smear will be loaded with eosinophils. * Avoid triggering factors. Antihistamines and decongestants are very helpful. * Cromolyn is used to stabilize mast cells, take before season starts. * Topical corticosteroids are helpful for allergic seasonal rhinitis. Secondary infections treated with antibiotics. * DDx for snoring includes tonsillar hypertrophy. DDx nasal polyps, foreign bodies (unilateral discharge), rhinitis medicamentosa (vasoconstrictors, tachyphylaxis with rebound edema), unilateral atresia. -------------------------------------------------------------------------------------------------------------------------------------------Immunology: Urticaria & Angioedema * 5yo boy presents to the ED because he was stung by a bee and has developed a wheel-like raised rash over his body. He develops respiratory distress, dizziness, and emesis. Exam shows stable vital signs and no tongue swelling or wheezing. He has well circumscribed raised lesions of various sizes on his trunk and upper extremities that are pruritic. * Urticaria (hives) will be raised and erythematous, blanches, can coalesce (run into each other). * Always feel a rash on the patient. * Angioedema (angioneurotic edema) is difficult to distinguish from urticaria but tends to affect deeper layers of the skin. Can also involve other tissues including the respiratory tract. * Hereditary angioedema suspected with recurrent episodes of non-pitting edema. Can involve the GI tract, respiratory tract (wheezing, respiratory problems, possibly intubation needed). * Hereditary angioedema cause by a C1-esterase inhibitor deficiency. * Urticaria more commonly seen in girl than boys, IgE mediate with release of histamine. Can have C3a and C5a pathways. Another pathway is via bradykinin release. * Causes include foods (chocolate, peanuts, strawberries, etc.), medications, viruses, bacteria sometimes. * Trouble when you prescribe an antibiotic and are not sure if it is viral. If patient gets a rash, is it due to the antibiotic or due to the virus? * Treatment is self-limited, supportive includes antihistamines for the itch. * Severe urticaria especially if airway compromise may require epinephrine. * May last up to 6 weeks. If lasting past 6 weeks then it is chronic urticaria. * DDx includes erythema multiforme, urticaria pigmentosa (more systemic signs), exercise-induced anaphylaxis (hypotension, urticaria, angioedema, wheezing), urticarial vasculitis (do not respond to antihistamines well). -------------------------------------------------------------------------------------------------------------------------------------------Immunology: Atopic Dermatitis * Mother brings her 5yo daughter to the physician’s office because her daughter has developed a rash in the antecubital area. The rash is pruritic. On exam, an erythematous rash with excoriations is noted in the flexor area. * Atopic dermatitis (eczema) is an inflammatory allergic reaction with erythema, edema, itching, exudates, crusting, scaling. Usually a family history of asthma, seasonal allergic rhinitis, or actual atopic dermatitis. * In infancy, presents on the face with weeping lesions. Can get crusty, scaling, extremely itches. * Can be on the cheeks, neck, wrists, hands, and extensor aspects of the extremities. * Many times it coincides with the introduction of foods. Introduce 1 new food per week. * Older children get rash on flexor surfaces (antecubital areas). * Eosinophilia on CBC is helpful. Mnemonic is NAACP: neoplasm, allergy, asthma, Addison disease, collagen vascular disease, parasites. * Atopic pleats can be seen under the lower eyelid. Also called infraorbital fold, Dennie lines, Morgan folds. * Treatment is bathing less often to prevent washing off natural skin oils. Use mild soaps, oils. Avoid environmental causes of itching. Increase humidity in winter. Avoid rough-texture clothing (e.g. wool). Use antihistamines and treat secondary skin infections. Topical corticosteroids can be used. * Complications include secondary skin infections from scratching, staph aureus or group A beta-hemolytic strep.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* DDx includes scabies, allergic contact dermatitis (e.g. on toe from glues used in shoes, poison ivy, poison sumac, poison oak). -------------------------------------------------------------------------------------------------------------------------------------------Immunology: Deficiencies Overview * With immune deficiencies, there is a history of recurrent infections. May not present right at birth because the mother’s immune globulins are circulating. * History of recurrent sinus infections, failure to thrive, recurrent pulmonary infections, recurrent bacterial sepsis. * The best test for suspected immune deficiencies is serum immunoglobulins. * Patients could have skin lesions, autoimmune disease, hepatosplenomegaly. * Order CBC with manual differential, sed rate (not specific), immunoglobulin levels. Can get antibody titers and IgG subclasses. So if you suspect B-cell deficiencies then order immunoglobulin levels. For T-cell deficiencies, order absolute lymphocyte counts and skin testing for delayed hypersensitivity. For phagocyte deficiency order absolute neutrophil count (CBC) and neutrophil respiratory burst testing. Complement deficiencies order CH50. * 15mo child presents to the physician with fever of 39C. Exam reveals right tympanic membrane that is erythematous and bulging, has obscured landmarks and no mobility. This is otitis media. On review of medical records, you note that since 9mo this child has had multiple infections with otitis media, sinusitis, and pneumonia. -------------------------------------------------------------------------------------------------------------------------------------------Immunology: Agammaglobulinemias * Bruton disease (X-linked congenital agammaglobulinemia, panhypogammaglobulinemia) is due to defects in the B-lymphocytes. This is X-linked (q22 chromosome) and involves all three classes of immunoglobulins. * Most boys with Bruton will present after maternal antibodies fall at about age 6-12 months. * Patients will get repeated infections. Exam may show hypoplasia of tonsils and adenoids, no LAD, no HSM. * Carriers are detected by direct mutation analysis. Prenatal detection is done by mutation analysis. * With suspected Bruton, draw serum immunoglobulins from patient. All three classes will be decreased. * Treatment is antibiotics for infections and immunoglobulin therapy (IgG injection once a month). * Paralysis after polio vaccination has occurred but is not likely anymore with killed vaccination. * Bruton patients at risk for mycoplasma, hepatitis, enteroviruses are difficult to handle. * 3yo is brought to your office because of recurrent URIs and UTIs as well as chronic diarrhea. IgA deficiency. * You suspect immune deficiency here so you order all immunoglobulins. * IgA deficiency is the most common humeral antibody deficiency. Unknown transmission, autosomal dominant? * Patients susceptible to recurrent respiratory infections and can have chronic diarrhea. * Patients with IgA deficiency need blood screening. If they need blood transfusion, the blood bank must know about the IgA deficiency because there can be an incompatibility reaction. * High association with lupus, arthritis, increased cancer risk. Be careful with blood products because they develop anti-IgA antibodies, can have anaphylactic reaction. * 2yo presents to your office with greater than 7 sinopulmonary infections in the past year. The patient does not have siblings and does not attend daycare. No one is ill in the household. The patient does not have any pets or animal exposure, no recent travel, no FTT, is at 50% for height and weight at age. * Four subclasses of IgG. When one or more is low the you get IgG subclass deficiency. Order immunoglobulin levels. * Most patients with IgG-2 deficiency will also have IgA deficiency. * Diagnosis is via IgG subclasses. Gamma replacement therapy is indicated. -------------------------------------------------------------------------------------------------------------------------------------------Immunology: DiGeorge Syndrome * 3week old infant presents with a generalized seizure. The patient was born to a 22yo G1P1 Caucasian at full term with spontaneous vaginal delivery. The mother had good prenatal care and denies tobacco or drug use. There were no complications at delivery. Patient weighed 7lbs 6oz at birth and had gained weight. The patient has been feeding and sleeping well. Exam shows hypertelorism (eyes wide spaced), low set ears, micrognathia, and fish-mouth. This is DiGeorge syndrome. * DiGeorge syndrome associated with conotruncal defects of the heart. T-cell defect. Thymic hypoplasia from injury to cephalic crest cells, which contribute to the 3rd and 4th pharyngeal pouches. * Hypoplasia of thymus and parathyroid glands. * Other structure that form at the same time can be affected, heart disease, hypertelorism, esophageal atresia, bifid uvula, micrognathia. May look like fetal alcohol syndrome. * First manifestation may be hypocalcemia or seizure due to hypocalcemia from parathyroid hypoplasia. * DiGeorge occurs in both boys and girls, on chromosome 22.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Some children will have partial DiGeorge syndrome/sequence and not have problems. Complete DiGeorge has many complications, including graft versus host disease from non-irradiated blood transfusion. * Exam can show epicanthal folds, wide-spaced eyes, low-set ears, short philtrum, ASD, VSD, truncus arteriosus. * Genotyping with PCR can be done to get diagnosis. Normally diagnosis is clinical. * Treatment is thymic tissue transplants, bone marrow transplants. -------------------------------------------------------------------------------------------------------------------------------------------Immunology: B & T-Cell Deficiency * 1yo infants presents to the physician with severe eczema. Exam shows draining ears and petechial rash. Review of record reveals recurrent infections including otitis media and pnemonia. * Wiskott-Aldrich syndrome is a B-cell and T-cell defect. X-linked recessive. * Recurrent infections, thrombocytopenia, eczema. Maybe HSM. * Wiskott-Aldrich mnemonic MR TEXT: IgM decreased, Recurrent infections, T-cell and B-cell, Eczema, X-linked recessive, Thrombocytopenia. * IgA and IgE will be high, IgG will be normal or low, IgM will be low. * Splenectomy is treatment, can take care of thrombocytopenia. Higher risk of infection though especially with encapsulated bacteria like pneumococcus. Need antibiotic prophylaxis. * Wiskott-Aldrich syndrome definitive treatment is bone marrow transplant. * Complications include bleeding due to thrombocytopenia, higher risk of malignancy. -------------------------------------------------------------------------------------------------------------------------------------------Immunology: Ataxia Telangiectasia * 3yo presents with ataxia, mask-like facies, drooling, tics, and irregular eye movements. According to the mother, the ataxia began at about 1yo. Exam shows eyes with telangiectasia. History involves recurrent respiratory infections. * Ataxia telangiectasia can involve telangiectases of the eyes/skin, chronic pneumonias, endocrine abnormalities. * Humeral and cellular immunodeficiencies. * Ataxia telangiectasia is autosomal recessive and on chromosome 11. * What are the odds of having another affected child? Answer is 1 in 4. * First neurologic sign is ataxia, starts after the child begins walking. * Testing includes immunoglobulins levels, showing IgA deficiency, low IgE and IgM. CD3 and CD4 counts moderately lowered, CD8 count moderately high. * Children usually end up in wheelchairs by the age of 12. High risk for varicella. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Pediatric Respiratory with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Development of the Eye * Babies are born with large eyes, 65-75% of adult size at birth. * When babies are first born, their eyes go all over, cross, etc. It takes 3-4 months for them to fix and give binocular fixation. You can get strabismus before but do not worry much. * Normal eyesight is not present at birth. At birth, normally 20/200 to 20/300. Can only see about 12-19 inches clearly, about the distance from the mom’s face to the baby’s face when nursing (not a coincidence). * By age 5-6, eyesight is 20/20. * Newborns see black and white better than color and see patterns better. Black and white cutout checkerboard or target patterns in the newborn nursery helps stimulate the baby sitting in the crib. * Color blindness is usually red-green and X-linked recessive disease (from mother). * Coloboma is a defect of the eyelid but can do deeper layers into the eye (iris, lens, retina, choroid). Opening in the lid can lead to ulceration and scarring due to scaring. * Coloboma may be isolated but associated with chromosomal disorders and malformation syndromes. * Epicanthal folds may be very prominent in infants, giving pseudo-strabismus due to wide nasal bridge. * Ptosis (upper eyelid drooping) is the most common anomaly of the eyelid, usually isolated, usually no treatment. Can be associated with botulism and myasthenia gravis. Can be surgically corrected. * Infections of the lid include blepharitis (inflammation of lid margins, associated with pain, itching, burning, eyelid redness), hordeolum (stye, staph infection of ciliary follicles/glands along the lid margin, treat with warm compresses and topical antibiotics), chalazion (granulomatous inflammatory response, below lid margin, retention of secretions of meibomian glands, scrape out via incision looks like tapioca pudding). * 12-hour-old newborn is noted to have bilateral conjunctival injection, tearing, and left eyelid swelling. Exam is otherwise normal.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Conjunctivitis is inflammation of conjunctival vessels. If newborn less than 24h old, think chemical from something like silver nitrate drops (used prior to erythromycin). * Gonococcal ophthalmia can be prevented with erythromycin drops. Purulent bilateral conjunctivitis, about 5d of age or later if failed topical antibiotics. Bacterial conjunctivitis not seen in the first 24h of life. * Chlamydia is the most common cause of conjunctivitis, 5-23d after birth. * Purulent conjunctivitis is usually bacterial, seen in older children. Viruses can cause conjunctivitis (pertussis, measles, Kawasaki). Allergies can cause conjunctivitis. * Conjunctivitis exam will show tearing, conjunctival erythema, lid redness, discharge. * Pain with photophobia, stop thinking about conjunctivitis and think about corneal problems. * Gram stain discharge (quick answer) and culture (day or two wait). * Treatment for gonococcal conjunctivitis is ceftriaxone. Prevention with silver nitrate or erythromycin topical. * Treatment of chlamydial conjunctivitis is with erythromycin topically and systemically to prevent pneumonia. * Older children with acute purulent conjunctivitis use topical antibiotic drops. *Allergic conjunctivitis with decongestant drops or mast cell stabilizers or antihistamine drops, cool compress. * Ophthalmia neonatorum can cause corneal problems. Most other conjunctivitis does not have complications. * DDx dacryostenosis which is nasal lacrimal duct obstruction, usually unilateral, newborn or infant, treated with gentle massage about 3-4x/day. * Subconjunctival hemorrhage from birth trauma or forceful vomiting or coughing. Bright red patch seen in the conjunctiva. Can occur with mild trauma, coughing, sneezing, conjunctivitis. Resolves on its own. * For strabismus and amblyopia, do cover test and Hirschberg test, where you shine light and see where it bounces off the eyes. It should bounce off the center of the pupil in both eyes. Then do cover test, cover the eye that is straight ahead. If there is amblyopia, the lazy eye will go straight ahead. * Strabismus is a misalignment of the eyes (divergent, convergent). Results from abnormal innervation of the muscles from the supranuclear nerve. Can have transient or pseudo-strabismus up to 4mo. * Extraocular movements normal in strabismus. * Treatment for strabismus is glasses and possibly surgery to correct the muscle, shorten/trim muscle. * 5yo boy is seen in the office because his left eye turns in. Exam reveals turning in of the left eye. Extraocular movements are intact. Covering the right eye cause the left eye to straighten out. Visual acuity is affected in the left eye, needs glasses. Patching the good eye helps, but do not patch for too long, refer to ophthalmologist. * Amblyopia is a decrease in visual acuity as a result of an unclear image falling on the retina. It can be caused by strabismus or by an opacity in the visual axis (deprivation). * Treatment is remove opacity if it exists. If no opacity, patch the good eye. * 7yo boy presents with swelling around the eye two days after suffering an insect bite to the eyelid. There is edema, erythema, and proptosis of the eye. Marked limitation of eye movements are noted. He has a low grade fever. This is orbital cellulitis (versus periorbital cellulitis). * Key for orbital cellulitis is proptosis and limited eye movements. * Periorbital cellulitis is an inflammatory condition involving the tissues of the orbit. It most commonly arises from sinusitis. Organisms are H. influenzae type B, staph, group A beta hemolytic strep, strep pneumonia, anaerobes. * Periorbital cellulitis can occur after direct infection from a wound (e.g. trauma, bug bite). * Patients with orbital cellulitis will complain of orbital pain, decreased vision, proptosis (eye pushed forward), conjunctival edema, and eyelid swelling. * Stage I orbital cellulitis is swelling of the eyelid still confined to the sinus. * Stage II is sub-periosteal abscess. * Stage III is true orbital cellulitis with limitation of eye movement. * Stage IV is an orbital abscess. * Orbital and periorbital cellulitis both diagnosed clinically. Can get CT scan if needed. * Treatment is antibiotics. Orbital cellulitis may need to be drained. * Complications include loss of vision. * Periorbital cellulitis with violaceous color is more specific for H. influenza type B. * Retinoblastoma is diagnosed with white reflex, leukocoria. * Eyelid ecchymosis (black eye) occurs after trauma and resorbs spontaneously (goes away). * Foreign bodies to the eye produce discomfort, tearing, irritation. Foreign body under the eyelid can mimic a corneal foreign body. Pull down eyelids, evert eyelids. * Intraocular foreign body would be someone hammering a nail then feels something go into their eye. In this case, call the ophthalmologist. * Pain and photophobia in the eye, corneal abrasion. Do a fluorescein stain, look under a cobalt blue lamp.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

Treatment is topical antibiotics, tape, and leave alone for about 24h, check next day. If not getting any better, call the ophthalmologist. Know what you’re dealing with before starting steroid drops in the eye. If viral infection and you start steroids, you may be hurting them more than helping them. -------------------------------------------------------------------------------------------------------------------------------------------Development of the Teeth * 7mo infant is very fussy, drooling, and grabs at her left ear. Exam reveals normal tympanic membranes, mild swelling of the gingiva. * Ear infections do not really cause fever, rashes, diarrhea, these are folk-tales. * Teething starts about 6-8mo of age, as teeth erupt. Signs and symptoms are local discomfort, bluish discoloration of the gums (hematoma or eruption cysts), drooling, fussy. * No substantial evidence relating teething to diarrhea, rashes, rhinorrhea, fever. * Treatment consists of teething rings and cool compresses, nothing frozen because they can stick. * Incisors erupt about 6-9 months. 1st molars at 10-15 months. Canines and 2nd molars at 16-27 months. Some children are born with a tooth. Some a year old with only one tooth. * First teeth to erupt are the lower central incisors, then upper central incisors, then upper lateral incisors, then lower lateral incisors. By age 1yo, 6-8 teeth. By 2yo, 12-16 teeth. By 3yo all teeth. * Milk bottle (nursing) caries caused by diet, particularly sticky carbohydrates. Bacteria can cause cavities, particularly strep mutans. Repetitive/continued exposure can cause caries. Don’t let baby go to bed with a bottle. Lesions are usually easy to see, may complain of pain because of tooth decay. Fluoride started at 6mo if breast fed, use fluoride water with any formula mix. Brush teeth as soon as they erupt. Best first dental checkup is age 3. * Tetracycline can cause yellow discoloration of the teeth, enamel hypoplasia. * Gingival hyperplasia caused by phenytoin, reversible. Need good oral hygiene. * Cleft lip is a cosmetic problem. Cleft palate affects speech, aspiration, and ear infections. Surgical repair necessary at 10 weeks and 10lbs. * Geographic tongue is common, normal variant, sometimes normal with viral infections. * No such thing as a hairy tongue. Black hairy tongue is elongated papilla. -------------------------------------------------------------------------------------------------------------------------------------------Development of the Ears * Otitis media is related to 30million visits/year to the doctor. Expenditures > $2billion/year in 2000. Ventilation tubes (T-tubes, PE-tubes) most common minor surgical procedure. Tonsillectomy/adenoidectomy most common major surgical procedure. * 4yo seen in the office with three day history of fever and cold symptoms. He now complains of right ear pain. Exam shows a bulging tympanic membrane with loss of light reflex and landmarks. * Risk factors for otitis media include being younger than 6yo, males, daycare, second-hand smoke, formula feeding (breast is best, less infections, higher IQ), craniofacial anatomy. * Caused by allergy, immunologic deficiency, ciliary dyskinesia, eustachian tube dysfunction, viruses (RSV, parainfluenza, adenovirus), bacteria (S. pneumonia, nontypable H. influenzae, M. catarrhalis). * Most common bacterial cause is S. pneumonia. Many H. influenzae are beta-lactamase producers. M. catarrhalis are all beta-lactamase producers. S. pyogenes type A also commonly beta-lactamase positive. * Child eustachian tube is more horizontal. With more colds, pressure differences can force pathogens into the ear. * Acute otitis media (AOM) symptoms include earache (otalgia, most common complaint) or ear pain, ear drainage, fever, diarrhea, irritability, anorexia. * Diagnosis by looking at tympanic membrane, pneumatic otoscopy (blow ear into canal to see membrane movement) best test, good for chronic serous otitis media too. * Treatment is antibiotics, amoxicillin preferred. If resistance, amoxicillin/clavulanic acid (covers beta-lactamase producers) plus amoxicillin, third-gen cephalosporins. * Fever or earache after 72h of treatment, think beta-lactamase producers and change antibiotics. * Complications include persistent middle ear effusion (no treatment), recurrent otitis media (myringostomy tubes), hearing loss (most common complication), ear drum perforation, mastoiditis, cholesteatoma (squamous epithelial cells caught in tympanic membrane, can spread and destroy temporal bone structures), meningitis (most common intracranial complication), labyrinthitis (vertigo, nystagmus, tinnitus, hearing loss, vomiting). * Treat to avoid hearing loss, impaired speech/language development, cognition, school performance. * Otitis externa (swimmer ear) differentiated from AOM by exam. Otitis externa usually caused by repeated wetting of the ear canal or repeated trauma to the ear canal. Pain with external ear manipulation, pulling on pinna. * Exam may show red canal with macerations. Otitis externa and AOM both cause ear ache. * Causes of otitis externa include pseudomonas and staph aureus.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Treatment with antibiotic drops. Tell not to put anything into ears. Rule of thumb is not to put anything in your ear that is smaller than your elbow. Do not use ear swabs, this packs wax in or causes otitis externa from trauma. * Best way to remove a live insect foreign body from the ear is with viscous lidocaine. The lidocaine irritates the bug and it works its way out. If you use mineral oil or something else, you’ll end up having to dig out the dead bug. * If foreign body is a dry vegetable (corn, bean) do not flush it out because if it does not come out it will swell. -------------------------------------------------------------------------------------------------------------------------------------------Development of the Nose * A newborn is noted to be cyanotic in the well-born nursery. On stimulation he cries and becomes pink again. The nurse has difficulty passing a catheter through the nose. This is choanal atresia. * Choanal atresia is a septum between the nose and pharynx. Presents at birth because babies are obligate nose breathers. When they get stimulated they cry and breath through their mouth. * Choanal atresia key is blue baby that pinks up with crying. * Associated with CHARGE syndrome: Coloboma, Heart disease, choanal Atresia, Retarded growth/development, Genital anomalies (e.g. hypogonadism), Ear anomalies (e.g. deftness). * Diagnostic test is inability to pass catheter through nose. Fiber-optic rhinoscopy can be done to see the plate. * Treatment is ABC (establish airway), surgical correction. * Common colds usually caused by rhinoviruses. * Children are the major reservoirs for the common cold. Residents and medical students will catch these illnesses because they haven’t been exposed to these germs in a long time. * Incubation period for common cold is 2-5 days, large droplet or small aerosol transmission (coughing, sneezing) and gets on hands, especially in kids who get snot all over and don’t wash their hands. * Symptoms are fever, nasal congestion, rhinorrhea, sneezing, pharyngitis, malaise may be present. * Treating with antihistamines does not help. It will last a week without treatment and 7 days with treatment (joke). * Decongestants may help. Vitamin C, Zinc, Echinacea, all not proven to help. * Sinusitis is caused by strep pneumonia, moraxella, nontypable h. influenza, sometimes staph or anaerobes. * Look for purulent nasal drainage and coughing with sinusitis. * If child has had a cold for more than 10 days, think sinusitis. If child has been improving with a cold then spikes a fever, think sinusitis. If drainage become purulent after 7-10 days, think sinusitis. * Older children and adolescents will complain of headaches, tenderness to palpation of frontal or maxillary sinuses. Little children will not because they do not have developed sinuses. * Diagnosis is clinical. Can get x-rays in older children who have developed sinuses, seeing air-fluid levels. * CT scan would be diagnostic, but much more expensive. * If you suspect sinusitis, have to order a test, and child is old enough (like > 6yo), you can order sinus x-ray films. * Treatment is antibiotics for 14-21 days. May need to treat for 21 days if antibiotics cannot fully penetrate. * Complications include orbital cellulitis, abscesses, meningitis. * Majority of nose bleeds occur due to nose trauma or picking nose. * 8yo has repeated episodes of nosebleeds. Past history, family history, physical exam are unremarkable. Most common cause is picking your nose. Other causes include allergic rhinitis or recurrent URIs (inflammation). * Rarely nosebleeds are caused by vascular anomalies or coagulation problems. * Epistaxis is rare outside of childhood, seen again in elderly. * Angiofibroma should be considered in pubertal boys with profuse bleeding and associated nasal mass. * Foreign bodies can cause nosebleeds, but usually you see purulent unilateral nasal discharge. * 3yo seen in the office due to foul-smelling unilateral purulent nasal discharge. Strep screen in the ED is negative the night before. You walk into the room and it smells foul. Exam shows normal ears and throat. Exam of the nose shows a piece of foam. * Nosebleeds usually occur without any warning, are usually unilateral, and can recur soon after. * Most nosebleeds will resolve spontaneously. * Treatment is nasal compression with leaning forward (do not lean backwards). * Local vasoconstrictor spray can be used (e.g. epinephrine). Nasal packing can be used for severe bleeds. Nasal packs are usually left in for a day or two. Clean out the nose (blowing) prior to placing nasal packs. -------------------------------------------------------------------------------------------------------------------------------------------Development of the Throat * 8yo girl complains by acute sore throat of 2 days duration accompanied by fever and mild abdominal pain. Physical exam reveals large erythematous tonsils with exudate and large slightly tender lymph nodes. This is pharyngitis. Is this strep throat? You don’t know yet. * Pharyngitis caused by viral infections in 50-55% of cases. Most causes of viral pharyngitis follow “colds and flu”

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Study Notes – Pediatrics

James Lamberg

28Jul2010

due to viruses. Most viral cases are self-limiting and resolve without treatment. * Most common pathogen in bacterial pharyngitis is S. pyogenes (25%). Probable co-pathogens are H. influenza (18%), M. catarrhalis (16%), and S. aureus (2%). * Pharyngitis caused by S. pyogenes particularly affects children between ages 5 and 10 years. * Most common causes of pharyngitis are viruses or group A beta hemolytic strep. You cannot tell the difference by looking in the throat. * Gold standard test is throat culture. A negative rapid test needs to be backed up with a culture. * Pharyngitis is rare under 1yo, usually acute. More common in 5-15 years of age. Under 5yo, think viruses. * Both viral and bacterial have erythema, exudates, petechia, enlarged tonsils, cervical adenopathy. * Viral pharyngitis is usually gradual onset preceded by cold symptoms. If vesicles or ulcers in the mouth, you can be more confident in saying it is viral. Conjunctivitis associated with adenovirus. * Group A strep may have more headache, more abdominal pain, usually no URI symptoms. * Palatal petechia seen in both but more suggestive in strep. * Exam shows swollen red tonsils, red swollen uvula, palatal petechia. Strep of virus? Answer is you don’t know. * Kissing tonsils (Grade IV, 4+ tonsils) when tonsils are so large they touch. Strep or virus? You don’t know. * Circum-oral pallor, erythematous fine blanching sandpaper rash with strep pharyngitis usually. * White strawberry tongue seen with Scarlet fever. Probably strep. * Complications include peritonsillar abscess, bacteremia, acute rheumatic fever, glomerulonephritis. * Treatment of viral pharyngitis is supportive, treat the symptoms, throat lozenges, salt water gargles, whatever. * Treatment of strep pharyngitis is penicillin. If allergic, erythromycin or cephalosporins. * Retropharyngeal abscess may have drooling, airway obstruction, respiratory distress. Treatment is ABCs, antibiotics, drainage. * Peritonsillar abscess may have enlarged tonsil pushing uvula away, “hot potato” voice sounding like they have something too hot in their mouth. Treatment is ABCs, antibiotics, drainage (even a teaspoon worth of fluid). * In general, with cervical lymphadenopathy in children think about infections. TB, atypical mycoplasma, group A beta hemolytic strep, viruses, infected branchial cleft cyst. After all that, then think about neoplasms. * DDx includes branchial cleft cyst, cystic hygroma, thyroglossal duct cyst. * Indications for tonsillectomy include persistent oral obstruction, recurrent peritonsillar abscesses, recurrent cervical adenitis, suspected tonsillar tumor. * Indications for adenoidectomy include persistent nasal obstruction and mouth bleeding, snoring and snorting, nasal speech, repeated or chronic otitis media. * Indications for tonsillectomy and adenoidectomy (T & A) include cor pulmonale from persistent hypoxia, sleep apnea, recurrent aspiration pneumonias. * Invalid reasons for T & A include many colds, recurrent strep less than 7 infections a year for one year, less than 5 infections per year for two years, less than 3 infections per year for three years, parents want tonsils/adenoids out. -------------------------------------------------------------------------------------------------------------------------------------------Respiratory: Foreign Body Aspiration & Ingestion * Toddler presents to the ED after choking on some coins. Child’s mother believes the child swallowed a quarter. Exam shows drooling and moderate respiratory distress. There are decreased breath sounds on the right with intercostal contractions. This is foreign body aspiration. * Best method to diagnose foreign body aspiration is bronchoscopy. * Right main-stem is most common location of foreign body. * Most commonly aspirated foreign body is a peanut. Most commonly ingested foreign body is a coin. * Aspirated foreign body is a sudden event, usually a witness event. Children < 4yo are at higher risk due to smaller trachea and curiosity (putting things in their mouth). * Should avoid giving children peanuts until 5yo. Avoid grapes, small hard candies, etc. * Exam may show respiratory problems, wheezing, decreased unilateral breath sounds. Stridor if in larynx. * Larynx most common site of foreign body if < 1yo, trachea and bronchi are most common if > 1yo. * Non-obstructing foreign bodies are relatively rare. * Inspiratory and expiratory films are helpful if the child can cooperate. You will look for signs of hyperinflation on the side of the obstruction since air cannot get out. * Place child on the side you suspect has the foreign body (usually right) and do inspiratory and expiatory decubitus films. When you’re laying down and you breath out, the mediastinum should shift down a little. But, if there is a foreign body you will not get the shift because air (foreign body obstruction) is holding up the mediastinum. * You see an object in the center of an AP film. How can you determine if it is in the esophagus or trachea? Should you do a lateral film? No. Test is “en fos”. If aspirated it will be turned, if swallowed it will be on face on AP film.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Tracheal rings are cartilage on three sides, so easier for object to accommodate itself with an edge facing the back part (soft part), on edge via AP film. Esophagus is soft all the way around and fits in better on face via AP film. * Why is the tracheal rings C-shaped, with a soft back? Because every time you swallow a food bolus it would be slamming into the trachea if the trachea were hard all the way around. This way it gives a little bit. * Treatment is remove foreign body. Complications include aspiration pneumonia. * Avoid peanuts, hot dogs, popcorn, other small foods that can get stuck. -------------------------------------------------------------------------------------------------------------------------------------------Respiratory: Croup (Laryngotracheobronchitis) * 12mo child is brought to your office because of a barky cough. Mother states that for the past three days the child has developed a runny nose, fever, and cough. The symptoms are getting worse and the child seems to have difficulty breathing when he coughs. The child sounds like a seal when he coughs. * Croup has a barky cough and possibly some inspiratory stridor. * Laryngotracheobronchitis is caused by viruses, most commonly parainfluenza virus. RSV is second. * History may include other family members having colds. * Age range is 3-4mo up to about 5-6years of age. Typically 6mo to 2yo. * Presents as child with cold for few days then develops cough with stridor. Or, child wakes up suddenly with barky cough and stridor (spasmodic croup, seen in allergic children). * Exam may show fever, barking cough, stridor, tracheal tugging, nasal flaring. * Most patients will exhibit the symptoms of stridor and slight dyspnea before they get better. Hypoxia is rare. * Best first test to order is a neck film (AP, PA) to distinguish epiglottitis from croup. * Croup has a steeple sign or pencil sign. Looks like a church steeple with narrowing of trachea superiorly. * Treatment of croup is home management, humidity, keep child calm, cool air. * Racemic epinephrine treatment aerosolized can help due to vasoconstrictor effects. Worry about rebound edema. * IM corticosteroids have been shown to help with croup. * Croup is self limiting. Antibiotics will not help. * Complications include middle ear and lung infections from virus, bacterial tracheitis (staph aureus). * DDx include diphtheria (serous discharge, gray/white pharyngeal membrane), epiglottitis. -------------------------------------------------------------------------------------------------------------------------------------------Respiratory: Epiglottitis * 2yo child presents to the ED with her parents because of high fever and difficulty swallowing. Parents state the child was healthy but awoke with a fever of 104F, hoarse voice, and difficulty swallowing. On exam, patient is sitting in tripod position (trying to straighten the airway for easier breathing), drooling, expiratory stridor, nasal flaring, and retractions of the suprasternal notch, supraclavicular and intercostal spaces. * Epiglottitis is inflammation of the epiglottis, causes airway obstruction, is an airway emergency. * Children with epiglottitis look sicker than croup children. Epiglottitis usually seen in older kids. * Epiglottitis has less stridor, less barky cough, more drooling, more air hunger, higher fever than croup. * Epiglottitis most commonly caused by H. influenzae type B, incidence greatly decreased due to immunization. * Usually nobody else ill in the household. * Look for sudden onset of high fever, dysphagia, drooling, muffled voice, and tripod positioning. * Exam shows respiratory distress, air hunger. * This is an emergency. Do not send this child off to x-ray with a technician or the parents. Do not struggle with this patient to lay them down and look at their throat, because their airway can close while you are examining it. * When looking at a lateral film of the neck, the soft tissue structure should never be wider than the vertebral body. * To find epiglottis on lateral film, find the hyoid bone and look straight back. Thumbprint sign is when the inflamed epiglottis is so thick it looks like a thumbprint. Exam shows a cherry-red epiglottis. * Management, next best step, is secure an airway. Once the airway is secure, you are safe. Now you can give antibiotics and treat the patient. * Diagnosis is made on clinical and physical findings, as well as visualization of the enlarged epiglottis as you are intubating the patient (done by experts in endotracheal intubation and tracheostomy). Airway is usually obtained in the operating room under controlled conditions if possible. * Treatment for antibiotics is third generation cephalosporins. Keep the patient intubated for a couple of days, about 48-72h after starting antibiotics. * A tongue blade should never be used to examine the pharynx of a patient with epiglottitis. They will get laryngospasm and the airway will close and they can die. * DDx include croups, abscess, foreign body. Complications include death. --------------------------------------------------------------------------------------------------------------------------------------------

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Study Notes – Pediatrics

James Lamberg

28Jul2010

Respiratory: Asthma * 6yo boy presents to his physician with end-expiratory wheezing scattered throughout the lung fields. He is noted to have nasal flaring, tachypnea, and intercostal retractions. These symptoms are triggered by changes in the weather. There is a family history of asthma and atopic dermatitis. He has never been intubated or admitted to the pediatric ICU. His last hospitalization for asthma was 6mo ago, he takes medicine only when he starts to wheeze. * Asthma is a reversible obstructive airway disease. Symptoms come and go. It affects both small and large airways. * If you think of your airways as a pipe organ cause there are different sizes, you get different pitches of wheezing. * Three components of asthma are bronchospasm (muscles constrict), mucus production, airway edema. * Obstruction caused during asthma attack increases airway resistance and decreases FEV1 and flow rates. * Lungs will be hyperinflated and premature airway closure (air trapping). * Take a deep breath and let half out, then take another deep breath and let half out, continuing this will not last long in a healthy person (try it for yourself). That’s what an asthmatic feels like due to air trapping. * Etiology is unknown, does run in families, can be related to the environment, lots of different factors involved such as endocrine, immunologic, infectious. * Presentation varies for asthma. Acute attacks and insidious attacks. * Asthma has a tight “bronchospastic” cough. Wheezing is the hallmark of asthma. * Not everyone that has asthma wheezes and not everyone that wheezes has asthma. * Top three causes of chronic cough are asthma, post-nasal drip, and GERD. * Some people will have cough that is worse at night, or cough worse with exercise, or with cold weather, of after being exposed to smoke, or when cutting grass, and so on. * Asthma has wheezing, dyspnea, and a prolonged expiratory phase (to make room for next breath). * See symptoms of respiratory distress, accessory muscle use, nasal flaring, intercostal retractions. * Can complain of abdominal pain due to use of these muscles for breathing, like doing lots of sit ups. * Liver and spleen may be palpable on physical exam because diaphragm pushes them down with hyperinflation. * Clubbing is not a hallmark sign of asthma, they oxygenate well be asthma attacks so no clubbing. * No single diagnostic test for asthma. Usually clinical diagnosis. * Peripheral smear can show eosinophilia (NAACP mnemonic). Sputum will have eosinophilia also. * Allergy skin testing can help. Exercise testing in older children can help. Response to bronchodilators helps. Pulmonary function testing (PFT) before and after bronchodilators is helpful, but not pathognomonic. * X-rays show hyperinflation, flattened diaphragm, ribs more horizontal and maybe further apart, atelectasis particularly in the right middle lobe, peri-hilar inflammation. Also to rule out other parts of DDx. * No need to get CXR on patient every time they get an asthma exacerbation. For first time get a CXR to rule out a mass. If fever, CXR to rule out pneumonia. * Blood gases are not done routinely on asthma patients. However, sicker patients get ABGs. Initially, patients are hyperventilation so PCO2 low-normal. As attack progresses, PCO2 rises. At late stage, pH drops because you’ve used up all the buffers. * Best treatment is to avoid triggers if patient knows what they are. Daily management of the asthmatic varies. * Categories are acute, mild-intermittent, mild-persistent, moderate-persistent, severe-persistent. * Acute attack of asthma managed with bronchodilators (usually beta2 agonists), oxygen, and steroids. * Mild-intermittent asthma is symptoms occurring less than twice a week. Nocturnal symptoms (e.g. coughing). These patients do not need daily medications. Use short-acting inhaled beta2-agonists when symptoms. * Mild-persistent means symptoms occur more than twice a week, nocturnal symptoms more than twice a month. Need daily medications, such as cromolyn (mast cell stabilizer), nedocromil (stopped in 2008), or inhaled steroids. These days (2010), leukotriene antagonists (montelukast, zafirlukast, zileuton) have largely replaced cromolyn. Inhaled corticosteroids used as drug of choice for maintenance therapy. Beta2 agonist for break through. * Moderate-persistent is more frequent symptoms and wheezing between exacerbations. Use inhaled corticosteroids, long-acting beta2-agonists, and short-acting beta2-agonists for breakthrough. * Severe-persistent asthma is daily symptoms with more frequent hospitalizations. Use inhaled corticosteroids, longacting beta2-agonists, and short-acting beta2-agonists for breakthrough. Leukotriene receptor antagonists daily for maintenance therapy as well. * Treatment of exercise-induced asthma is using beta2-agonists prior to exercise. Giving a beta2-agonist like albuterol after an attack starts (trying to play catch-up) can be a dangerous game. * Complications of asthma include pneumothorax, respiratory distress, death. * Causes of wheezing include asthma, foreign body, Loeffler syndrome (pulmonary eosinophilia), cystic fibrosis, bronchiolitis. --------------------------------------------------------------------------------------------------------------------------------------------

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Study Notes – Pediatrics

James Lamberg

28Jul2010

Respiratory: Bronchiolitis * 6mo presents with a three day history of URI, wheezy cough, and dyspnea. Exam shows temp of 39C, 60/min, nasal flaring, accessory muscle use, is air hungry, and O2 sat at 92%. * Bronchiolitis most commonly caused by respiratory syncytial virus (RSV). Usually seen under age of 2yo. * Generally upper respiratory symptoms prior to developing coughing and wheezing. * Bronchiolitis is not really a bronchoconstrictive disease, more inflammatory. Since these children under the age of 2 have narrower airways, they can get into trouble with airway resistance and lower respiratory tract infections. * Causes include parainfluenza, mycoplasma, adenovirus, and second-hand smoke predisposes. * History of upper respiratory tract infections, developing fevers, rattling cough with respiratory distress. * Exam shows rapid breathing, wheezing and crackles possible, respiratory distress signs. * Little children with bronchiolitis can get apneic and cyanotic because they are getting tired. * X-rays usually reveal hyperinflation, peri-hilar atelectasis, viral pneumonitis or streaking, all not specific. * CBC usually normal. Best test to diagnose RSV bronchiolitis is a nasopharyngeal wash. * Quick fluorescence antibody of wash, if shows nothing then can culture. * Treatment is supportive for mild cases, humidified air (clean vaporizer daily), bronchodilator trial. * Some patients with bronchiolitis have a component of asthma, so those would respond to bronchodilators. * Some centers will give aerosolized epinephrine, can be helpful. * Corticosteroids are not indicated. Antibiotics are not necessary because it is viral. * Hospitalize if sick, like breathing very fast or lower than 95% sats for an infant. Hospitalize premature babies or babies less than 3mo. Worst stage of disease is 3-5 days in, so if kid is pretty sick at day 2 you should observer in the hospital. Patients with chronic lung disease of congenital heart disease should be hospitalized due to greater risk. Hospitalize any baby with respiratory rate > 60/min or PO2 < 60 on room air. * Some children do well after getting suctioned out, e.g. nasal suctions. * Ribavirin is aerosolized, can be used for patients with impending respiratory failure, immunodeficiencies, bronchopulmonary dysplasia, neuromuscular diseases, congenital heart disease. * Mortality from RSV bronchiolitis is < 1%. Death can occur from prolonged apneic episodes or due to dehydration. Dehydration because they do not feed due to constant breathing and due to respiratory water loss. * At risk babies can receive monoclonal antibodies as prevention. RSV IV immunoglobulin not used anymore. Palivizumab used now, monoclonal antibody against RSV given IM once a month during peak season (winter, November to March). High financial cost for this treatment. * Patients with congenital heart disease go not get IV or IM monoclonal antibody against RSV. * DDx includes asthma. -------------------------------------------------------------------------------------------------------------------------------------------Respiratory: Cystic Fibrosis (CF) * 3yo Caucasian girl presents with rectal prolapse. She is in the less than 5th percentile for her weight and height. The parents also note that she has a foul-smelling, bulky stool each day that floats. They also state that the child has developed a repetitive cough over the last few months. * Exam can show nasal polyps. * Cystic fibrosis is autosomal recessive on chromosome 7. * CF is a multisystem disease, old name was pancreatic mucoviscidosis. * CF characterized by thick secretions anywhere (not just lungs), recurrent lung infections, airway obstruction, malabsorption, and failure to thrive. * It is the most common fatal inherited disease of white children. Seen in 1:3500 white live births. 1:17000 black. * Carrier rate is 1:20. Odds of couples finding each other is 1:200. Odds of an affected kid is 1:4 of that. Incidence of live births runs anywhere from 1:1600 to 1:3500. * Gene codes for a protein, transmembrane conductance regulator. A defect in this protein leads to an abnormality in chloride transport. That produces abnormal thick mucus, in lungs, GI tract, sweat glands, GU system. * CF patients will have an elevated salt content in their sweat and other secretions. Have difficulty clearing mucus secretions which leads to chronic lung infections. * Meconium ileus or meconium plug in a newborn should be considered to have CF until proven otherwise. * Some babies will present with recurrent upper respiratory infections. Parents may say kid tastes salty when they kiss him. Some may present with GI symptoms like malabsorption of failure to thrive. Presentation varies. * When meconium plug is stuck in the bowel and does not move (ileus), patient gets micro-colon distally. * Rectal prolapse is very common in CF. Child may have decreased fat due to malabsorption and chronic disease. * Exam includes increased AP diameter, crackles, wheezing, meconium ileus, delayed sexual development. * CF patients can have malabsorption so chronic diarrhea with fatty stools. Problems absorbing fat-soluble vitamins

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Study Notes – Pediatrics

James Lamberg

28Jul2010

(ADEK). Can have biliary tract problems rarely. Pancreas problems can lead to diabetes even though they have an exocrine pancreatic insufficiency. * 95% of CF boys will be sterile. * CF kids can get dehydrated easily when exercising, should drink much more fluids. * Best test for diagnosis is sweat chloride level. Can do genetic test but does not pick up every mutation. * Sweat chloride level > 60 is considered positive. * Treatment is intensive pulmonary toilet (bronchodilators, chest percussion, suctioning), aggressive management of infections (many get quickly colonized with pseudomonas or staph aureus in lungs), calories and vitamin supplementation, pancreatic enzyme supplementation for absorption. * Complications include infections, pneumothorax (due to mucus plugging and coughing pressure), severe chronic lung disease (do get clubbing), respiratory tract colonization, pancreatic insufficiency, pancreatitis. * DDx is wide since it covers GI, pulmonary, endocrine, electrolyte. Should do lots of sweat test. -------------------------------------------------------------------------------------------------------------------------------------------Respiratory: Apnea * 5yo is brought to the physician because her mother states that the child snores and keeps the other family members awake at night. She also stops breathing each night for approximately 20s and then wakes from sleep. Additionally the mother states the child is not growing well and has poor school performance. Exam shows pleasant patient in no apparent distress. Findings include mouth breathing, hypo-nasal voice, and 4+ tonsils without exudates. * Apnea is the cessation of breathing for greater than 20 seconds. Obstructive sleep apnea is a combination of prolonged partial upper airway obstruction and intermittent cessation of breathing. * Apnea can be central (from brain), obstructive (upper airway), or mixed (most common form). * Risk factors include large tonsils, large adenoids, trisomy 21 with large tongue, cleft palate, isolated macroglosia. * Usually patient with obstructive apnea will have snoring. * Child may have history of mouth breathing and hypo-nasal speech with large tonsils with airway obstruction. * Diagnosis is made by sleep study (polysomnography). * Treatment if enlarged tonsils/adenoids is a T&A surgery, remove the problem. * Complications include poor growth, cor pulmonale due to hypoxia, poor school performance due to increased sleepiness, death. * DDx includes apnea of prematurity (apnea and associated bradycardia, treat with caffeine or theophylline), cyanotic breath holding (caused by prolonged expiration, can have cerebral anoxia, less than 3yo, hold breath due to anger, treatment is reassurance), pallid breath holding (after painful stimulus, turns pale/white, asystole, seizure, treatment is atropine because of asystole), obesity-hypoventilation (Pickwickian syndrome, seen with Prader-Willi syndrome, caused by airway obstruction, polycythemia, cor pulmonale, treatment is weight loss if possible). -------------------------------------------------------------------------------------------------------------------------------------------Sudden Infant Death Syndrome (SIDS) * Still not single cause determined for SIDS. * 2mo infant born without any complications via spontaneous vaginal delivery is brought to the ED by ambulance with cardiopulmonary resuscitation in progress. According to the mother the patients was in his usual state of health until 4am when she found the patient cyanotic and not breathing. The mother states that at midnight the infant was fed 4oz of formula without difficulty. After feeding the child was placed to sleep in the crib. At 4am she returned to check on the infant and found the child unresponsive. She immediately called EMS and began CPR. The child was pronounced dead on survival in the Emergency Department. * Sudden infant death is an unexplainable death by history of after a thorough autopsy, in infants (< 1yo). * SIDS is the most common cause of death in infants 1mo to 12mo of age. < 1mo they die from prematurity, congenital malformations, etc. * No single etiology for SIDS, lots of investigations on the cause. * Peak incidence is around 2-3mo of age. Peak time of year is winter January to February. Peak time is around midnight to 9am. * There is some relationship with sleep positioning. Put babies on their backs. “Back to sleep”. Exception would be obvious GE reflux issues. “Tummy time” is used during the day for development. * Risk factors are lack of prenatal care, prematurity, maternal smoking, lower socioeconomic status. * There is no diagnostic test because by definition a SIDS baby is already dead. * Acute life-threatening events or near-miss-SIDS can occur, may be a cause or may not be a cause. May go home on a home apnea monitor, which does not prevent the problem only helps recognize it quicker. * Sleep positioning is the most important thing for prevention, place baby on their back. --------------------------------------------------------------------------------------------------------------------------------------------

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Study Notes – Pediatrics

James Lamberg

28Jul2010

Respiratory: Pneumonia * 3yo child presents to the physician with a 104F temperature, tachypnea, and a wet cough. Patient’s sibling has similar symptoms. Child attends daycare but has no history of travel or pet exposure. Child has a decreased appetite but is able to take fluids, has urine output, immunizations are up to date. * Pneumonia is inflammation of the parenchyma (pulmonary tissue). It is difficult to differentiate viral from bacterial at times. * Definitions are pneumonitis, lobar pneumonia, and bronchopneumonia depending on localization. * Risk factors are infectious agents (viruses, bacteria, fungi, parasites), aspiration. * Viral pneumonia is the most common cause of pneumonia in children. * Generally, children with viral pneumonia do not look as sick as children with bacterial pneumonia. * Bronchiolitis is considered a viral pneumonitis. Viral pneumonia presents with wheezing, cough, maybe stridor, some crackles possible, diffuse lung symptoms. * Bacterial pneumonia signs include cough, higher fevers, more shortness of breath, more respiratory symptoms, and most localized lung findings like decreased breath sounds. * Remember percussion. With bacterial pneumonia there will be dullness to percussion over a localization. * Mycoplasma (“walking”) pneumonia will be a patient that doesn’t look so bad but x-ray looks terrible. * Chlamydia pneumonia has staccato cough and history of eye discharge, low grade or no fever. * Aspiration pneumonia with preceeding history of something happening. * CXR helpful. Difficult to get sputum sample in children. Transtracheal suction (past vocal cords) is best. * CXR with viral will show a diffuse bilateral streakiness. Bacterial will show consolidation, round pneumonia in children looks like coin lesion. * Mycoplasma CXR shows interstitial pattern in the lower lobes. * Chlamydia CXR shows hyperinflation or ground-glass appearance like RDS. * Aspiration CXR shows pneumonitis in locations of aspiration. * CBC helpful in differentiating viral from bacterial. Bacterial will have elevated WBC with predominantly neutrophils. Viral will have elevated WBC with predominantly lymphocytes. * If you tap a pleural effusion, send that for cultures. * If mycoplasma suspected, do mycoplasma titers. Can do cold agglutinins but titers are better. * Treatment for viruses is symptomatic. For bacteria is antibiotics, most commonly caused by strep pneumonia. * If you suspect strep pneumonia as the cause of severe invasive disease (e.g. meningitis), start patient on vancomycin and ceftriaxone until sensitivities come back. Increasing numbers of strep pneumonia that are intermediately resistant to cephalosporins. * Treatment for chlamydia pneumonia is erythromycin. * Treatment for group B strep, E. coli, or listeria is ampicillin and third generation cephalosporin or ampicillin and aminoglycoside. * Treatment for strep pneumonia is penicillin, but start broader until sensitivities come back. * Treatment for mycoplasma is macrolides (erythromycin, azithromycin, clarithromycin). * If pneumatoceles (abscesses) seen on CXR, think staph aureus. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Pediatric Cardiovascular with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Syndromes & Trisomies * Down syndrome: septal defects, patent ductus, aortic arch findings. * Hold-Oram syndrome: atrial and ventricular septal defects, arrhythmias. * Marfan syndrome: dilatation and aneurysms of aorta, aortic and mitral valve insufficiency, mitral valve prolapse. * Noonan syndrome: atrial septal defect, pulmonic stenosis. * Turner syndrome: coarctation of the aorta, bicuspid aortic valve. * Williams syndrome: supraventricular aortic stenosis, pulmonary artery stenosis. * Trisomy 13: patent ductus, septal defects, pulmonic and aortic stenosis (atresia). * Trisomy 18: ventricular septal defect, polyvalvular disease, coronary abnormalities, -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Overview * Children, particularly infants, do not present in heart failure like adults do. Can’t ask an infant how far they crawl before they get tired, or how many stuffed animals they have to put under their head when they sleep. * Infants in possible heart failure will have problems with feeding, get tired easily (because of feeding), can sweat during feeding, tachypnea.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Older children will have shortness of breath, can have dyspnea on exertion. * Orthopnea, edema, nocturnal dyspnea are uncommon in children. So not the same as with adults. * Physical exam will show tachycardia (know normal rates for kids). * Height and weight are always helpful. Severe congenital heart disease kids are usually small, may have FTT. * On exam, always palpate upper and lower extremity pulses. Should get upper and lower extremity BPs. A delay in pulses should make you suspicious for coarctation. * Exam may be helpful by demonstrating crackles on auscultation. This is indicative of pulmonary edema and leftsided heart failure. Hepatomegaly is indicative of right-sided heart failure. * With congenital heart disease, can get cyanosis and clubbing because of persistent chronic hypoxia. * Murmurs can be heard. Grade I murmur is difficult to hear, “the cardiologist murmur”. Grade II is faint but can be heard with background room noise. Grade III is louder than II but no associated thrill, may be heard when baby is crying for example. Grade IV-VI has an associated thrill, feels like a cat purring if you’ve felt that. Grade V has thrill that can be heard if stethoscope is touching chest wall at an angle. Grade VI is thrill heard with stethoscope just above (not touching) the chest wall. * Diagnostic tests include chest x-rays (size of heart, lung field flow, rib notching, position of aorta and pulmonary trunk), electrocardiogram (right axis deviation, left ventricular hypertrophy, right ventricular hypertrophy, bundle branch blocks), MRI (double aortic arch), cardiac catheterization, angiography, exercise testing. * The test of choice for most of these congenital defects is an echocardiogram. * Differential clubbing, toe has clubbing but the hand does not, think longstanding patent ductus arteriosus. * If you see gross malformation of the upper extremities, think about associated cardiac defects (ASD, VSD). * In utero, oxygenation occurs at the placenta. Right side of the heart does a lot of pumping. Lungs are a highresistance low-flow field. Communication between atria via foramen ovale and between pulmonary artery and aortic arch via ductus arteriosus. * When cord is clamped and baby takes a breath, we begin to convert to adult circulation. Foramen ovale starts to close, ductus arteriosus starts to close as response to oxygen tension (takes a couple of days). * In certain heart defects, we can keep the ductus open to our advantage. Symptoms may not appear until the ductus begins to close. These are ductal dependent lesions. -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Innocent Murmurs * 5yo male is seen for routine physical examination. Parents voice no concerns. Weight and height are at 75%. Vital signs are normal. Physical exam is remarkable for a soft musical grade II/VI murmur best heard at the left lower sternal border. * Important notes here are that the kid made it to age 5, so probably not a bad murmur. Weight and height are fine, vital signs are normal. So probably an innocent murmur (e.g. functional murmur, flow murmur). * Pathophysiology is simply hearing flow through a normal heart, no holes, no valvular disease. * Most innocent murmurs heard between ages 2 and 7 years. * More than 30% of children may have an innocent murmur heard at some point in their lives. * Innocent murmurs usually heard on routine physical exam, maybe more likely when there is increased cardiac output such as with fever, infection, nervous. * Rarely can you say always or never in medicine. But, an innocent murmur is never in diastole. There are pathologic murmurs in systole. Any diastolic murmur is pathologic. * Innocent murmurs are not greater than II/VI grade. * Typical sound is soft vibratory “musical” murmur. Heard best at left lower to mid-sternal border. * What is the next step? Answer is reassurance. Do not do an echo or any other tests. Reassure parents. * DDx includes pulmonary flow murmur (form of innocent flow murmur, higher pitched, blowing, heard in early systole, heard at left parasternal border), venous hum (heard in neck or anterior chest, systolic and diastolic, goes away when you compress a jugular vein). -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Congenital Heart Disease * Congenital heart disease occurs in about 0.5-0.8 per 100 live births. Lesions occur early on about 15-80 days of gestation. Diagnosis is usually made early on in life. Over half of patients diagnosed by 1mo of age. * Murmurs may not be heard initially. Murmurs are only heard when there is flow through a defect. The only time there is flow through a defect is if there is a different in pressures. When babies are born, their pulmonary vascular resistance tends to be high still. So you may not hear a murmur. When the resistance drops so that flow changes, then you’ll heard murmurs. * So it isn’t that an ASD was missed until 3-4mo of age or that the baby developed the ASD at that point. The baby

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Study Notes – Pediatrics

James Lamberg

28Jul2010

was born with the defect but it was not heard until 3-4mo because that is when the pressures changed enough for the flow to be heard across the defect. * 30% of patients with congenital heart disease have other anatomical abnormalities (e.g. limbs, TE fistula). * Congenital heart defects are most commonly idiopathic. Other causes include congenital rubella, fetal alcohol syndrome, maternal lithium use, Noonan syndrome, Down syndrome, and so on. * Murmurs are split into stenotic and shunting. Stenotic divided into aortic stenosis, pulmonic stenosis, coarctation of the aorta. Shunting divided into right-to-left (cyanotic), left-to-right (acyanotic), mixing-lesions. * Cyanotic-lesions are the 5Ts and a P: Tricuspid atresia, Tetralogy of Fallot, Transposition of the great vessels, Truncus arteriosus (mixing lesion), Total anomalous pulmonary venous return (maybe), Pulmonic stenosis. * For cyanotic heart disease, think the 5 Ts and 1 P. Could toss in hypoplastic left heart. -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Ventricular Septal Defect (VSD) * 3mo child presents with poor feeding, poor weight gain, and tachypnea. Physical exam reveals a harsh pansystolic 3/6 murmur at the left lower sternal border. Hepatomegaly is found. * Pansystolic implies you will not hear S1 and S2 well. Sounds like grind pause grind pause grind pause. * VSD is the most common congenital heart defect. One of the reasons that it is so common is because it is found in association with other heart defects. * VSD is a left-to-right shunt, acyanotic shunt. LV beats, pushing some blood out aorta and some into the RV. * Presentation depends on the size of the shunt. May not hear a lot of murmur initially when the pulmonary vascular resistance is high and there is not a lot of shunting. Large defects allow for a lot of shunting. * If you have persistent high flow from left-to-right, there is more flow to the lungs. The pulmonary vasculature will hypertrophy to help limit the amount of flow to the lungs. This will cause remodeling, eventually pulmonary vascular resistance increase and pulmonary hypertension. When pulmonary hypertension gets high enough, the shunt will change right-to-left, turning the acyanotic disease to a cyanotic disease (Eisenmenger complex). * Small defects are usually asymptomatic. * VSD murmur is usually harsh holosystolic/pansystolic murmur. * Large defects can lead to heart failure, manifested by dyspnea, poor feeding, poor weight gain, tachypnea, sweating while they feed. * CXR for VSD will show an enlarged heart. If small defect, won’t see much. * Electrocardiogram will show left ventricular hypertrophy (LVH). Large defects will show biventricular hypertrophy (LVH + RVH). * Best test is echocardiogram. Echo will show defect(s). * Small defects will resolve on their own, usually in 1-2 years. * Treatment includes antibiotic prophylaxis for dental or surgical procedures to prevent endocarditis. * Medical management is to manage heart failure, diuretics, digitalis, eventually surgical closure +/- patch. * Eisenmenger syndrome generally cannot be corrected once there is right-to-left shunting. Definitive surgical treatment is a heart-lung transplant. 10 year post-transplant survival rate is around 25%. -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Atrial Septal Defect (ASD) * In ASD, most blood goes from LA to LV but some gets into RA due to lower pressure. * ASD occurs anywhere along the atrial septum. Most common is ostium secundum defect. Most asymptomatic. * Can have some exercise intolerance as they get older. * Murmur is systolic, wide fixed-split of S2. * Normally you get an S2 split with a deep breath. When you breath in you get a decrease in intrathoracic pressure and a little bit of extra blood gets sucked from systemic venous circulation into the RA. So there is a little bit more blood to the RV to pulmonary trunk, meaning it takes a little bit longer for the pulmonary valve to close. * With ASD, you hear the murmur in systole because there is increased pulmonary blood flow. * Fixed S2 in ASD occurs because there is always more blood returning to the RA (from the defect coming through LA), more blood to RV, and more blood out pulmonary trunk thus later closure of the pulmonic valve. * Most patients do not have problems, some exercise intolerance later in life. * CXR can show enlarged RA and enlarged RV, depending on how big the shunt it. * ECG could show RA enlargement and RA conduction delay. * The best test is an echocardiogram. * Treatment is surgical correction. Can be done transvascular (femoral) or open heart with patch closure. * In general, ASDs do not close on their own. * Not a high flow lesion so no major risk of endocarditis, prophylaxis not really needed.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Complications include heart failure (3rd decade of life), dysrhythmias, valvular insufficiency. * Most children are fixed by about 4-5 years of age so they do not have to miss school. -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Patent Ductus Arteriosus (PDA) * In PDA, blood goes out aorta then through ductus back into the lungs, left-to-right shunt. * PDA more common in girls. Associated with congenital rubella. Common in premature infants. * Premature infants tend to respond better to medical management than term infants with PDA. * PDA could be helpful with other defects to help bypass flow. RV outflow tract obstruction would normally be fatal, but a PDA would allow for mixing of blood. * Small PDAs usually do not cause problems. Large PDAs can cause problems similar to large VSD. * With PDA, can have wide pulse pressure. Instead of 120/80, could get 120/40. * Physical exam will show bounding pulses on the palms and soles of the foot in premies. * Sometimes there is a heave. * Typical murmur is a machinery or to-and-fro murmur. Heard in systole and diastole. Sometimes in infants you will only hear a systolic ejection murmur. * CXR shows prominent pulmonary artery due to increased flow, increased pulmonary vascular markings due to increased flow, heart size may be normal or slightly enlarged. * Best test is echocardiogram. * Some PDAs can close spontaneously in premature babies. They respond to indomethacin. * Best medication to close the PDA is indomethacin. Does not work as well with term babies. * With term babies, do surgical closure (ligation) with a rib incision for entry, so not open heart surgery. -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Endocardial Cushion Defects * Endocardial cushion defect is a common AV canal, an ASD and VSD. Even through left-to-right, they become cyanotic because of increased flow to the lungs, pulmonary hypertension, then Eisenmenger syndrome. * Endocardial cushions are where the valves come from and the septum. So ASD, VSD, and cleft mitral valve. * Endocardial cushion defects more common in Down syndrome, trisomy 21. Since there is a huge flow to the lungs, these patients will go into heart failure very easily (1-3mo of age). Now you’re stuck, you have to wait for the child to be big enough so the surgery is feasible, but many times the kid can’t get big enough due to illness. * Patients will have heart failure early in infancy, hepatomegaly indicative of right sided failure, and FTT. * CXR shows increased pulmonary blood flow. Will have pulmonary hypertension so can develop Eisenmenger. * Exam can show a thrill. S2 will be widely split because of increased pulmonary blood flow. Diastolic murmur can occur due to mitral valve insufficiency. * Best test is echocardiogram. CXR will show enlarged heart. ECG will show LAD, biventricular hypertrophy, RV conduction delay. Color flow Doppler with echo will show blood shunting at both levels, atrium and ventricles. * Treatment is medical management of heart failure until surgery. Surgery is patching ASD and VSD then fixing the cleft mitral valve if possible. Technically that is easy to do, the problem is post-operatively because now you have no pop-off valve, right side of the heart is not use to pumping against high pressures, if high pulmonary hypertension the right side of the heart can fail. * Just because you hear a murmur doesn’t mean jump to the echo. Do a CXR and ECG first, then echo. * Fetal echocardiography is not a screening test. It is for diagnosis. -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Coarctation Of The Aorta * Coarctation of the aorta is a constriction of the aorta that can occur at any point but most commonly (98%) occurs just below the origin of the left subclavian. Majority have some ductal-type tissue. * 9day old is brought to the ED because of difficulty feeding and having problems breathing. Physical exam reveals BP of 150/100 in arm, baby is tachypneic, retracting, with poor capillary refill. * Next test is lower limb pressures. Lower extremities show BP 50/30. Baby has coarctation until proven otherwise. * What is the next step in management? Give prostaglandin to keep the ductus open, The coarctation has ductal tissue in it and keeping it open will help get forward flow to the rest of the body. * Coarctation more common in boys, increased incidence in Turner syndrome (with bicuspid aortic valve also). * Coarctation can be missed in the newborn because the ductus is still open during exam in the nursery. When the ductus closes is when you get problems, which is why you re-open the ductus until you can fix it. * Patients can presents with heart failure, metabolic acidosis, and lower body hypoperfusion, hypotension in the lower extremities, hypertension in the upper extremities, differences in blood pressure between arms possible (probably coarctation around the left subclavian), may hear a murmur.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* CXR findings depend on the age of the patient. Rib notching seen in older patients with smaller coarctation so they have time to develop collateral circulation (internal thoracics to intercostals). * Other cause of rib notching is Von Recklinghausen because of the neurofibromas along the intercostal nerves. * CXR will show cardiac enlargement in the infant with severe coarctation, increased pulmonary vascular markings, rib notching in older patients. * ECG shows RVH in infants, LVH seen later in childhood as you try to overcome the obstruction if mild. * Test of choice for the diagnosis is echocardiogram. * Treatment is prostaglandin in ductal dependent coarctation and then surgical correction. * Complications include hypertension because kidneys are not seeing blood, premature coronary artery disease, heart failure, encephalopathy, intracranial hemorrhage. Adults at higher risk for endocarditis. -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Tetralogy Of Fallot (TOF) * 6mo infants is prone to episodes of restlessness, cyanosis, and gasping respirations. Symptoms resolve when he is placed in the knee-chest position. Exam reveals an underweight infant with a harsh holosystolic murmur and a single S2 heart sound. * TOF is pulmonary (infundibular) stenosis, over-riding aorta sitting over VSD, right ventricular hypertrophy. * Spasm of the infundibular area just below the pulmonic valve can lead to “tet spells.” Increased R-to-L shunting. * Pentology of Fallot is less common, add an ASD to pulmonary stenosis, VSD, over-riding aorta, RV hypertrophy. * Symptoms depend on the size of the VSD and the size of the RV outflow tract obstruction. * TOF is the most common cyanotic congenital heart disease. * TOF may not present with cyanosis in the first 24h of life. If a heart disease presents with cyanosis within the first 24h of life, think of transposition of the great vessels. * Acyanotic TOF “pink tet” if there is enough pulmonary blood flow, so not as much shunting or RV outflow tract obstruction. * Most patients present with cyanosis, delayed growth and development, heart failure, hypoxia, can have dyspnea, have paroxysmal hyper-cyanotic attacks known as “hypoxic attacks” or “blue spells” or “tet spells.” * Tet spells are relieved by putting infant in the knee-chest position. Older children will squat down. This increases the systemic vascular resistance and thus decreases the amount of shunting that occurs. * Will see clubbing because of chronic hypoxia, will hear loud harsh systolic ejection murmur. * S2 will be single because the pulmonic stenosis prevents closure so you only hear the aortic valve closing. * CXR will have a “boot shaped heart” (cor en sabot), decreased pulmonary blood flow will result in less fluid in the pulmonary vasculature so the lungs will be very radiolucent. * ECG will show RVH and right axis deviation (RAD). * Test of choice is echocardiogram for diagnosis. * Medical management if severe right-sided lesion keep ductus open for a little while (prostaglandin). * Surgical repair of the defects is the definitive treatment. * Blue spells are treated with beta blockade, sedation, oxygen, knee-chest position, and avoiding acidosis. Keep these kids properly hydrated. Since chronically hypoxic, tend to have high hematocrit levels. * Complications include cerebral thrombosis because of the polycythemia due to chronic hypoxia (usually less than 2yo), brain abscesses, bacterial endocarditis. -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Transposition Of The Great Vessels * Blood from systemic circulation comes into the RA to RV then out the aorta back out to the body. Meanwhile, blood from the lungs goes into the LA to LV then out the pulmonary trunk and back to the lungs. So you get two separate circulations, which is incompatible with life. To save this, there has to be a mixing communication, either through ductus, ASD, or VSD. * Transposition of the great vessels is the most common cyanotic heart disease seen in first 24h of life. * What is the next step in management? Answer is prostaglandin. * Transposition more common in infants of diabetic mothers and in boys. * Symptoms are cyanosis in first 24h of life and rapid onset heart failure. May or may not hear a murmur. * CXR shows “egg on a string”, egg shaped heart. * Definitive test is echocardiogram for diagnosis. * Keep kid on prostaglandin until you figure out what is going on. * Treatment is surgical repair of great vessels. * Surgical repair is arterial switch procedure, Senning of Mustard procedure if at atrial level, Rastelli for ventricular. --------------------------------------------------------------------------------------------------------------------------------------------

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Study Notes – Pediatrics

James Lamberg

28Jul2010

Cardiovascular: Pulmonary Atresia & Tricuspid Atresia * Right ventricular blood backs up from the ventricle, shunting across the foramen ovale, causing right-to-left shunting and thus a cyanotic disorder. * Pulmonary atresia symptoms usually seen at 2-3days when ductus closes. * Will hear a single S2 heart sound. * ECG shows tall spiked p-waves, RA enlargement, LV hypertrophy. * Treatment is keep ductus open with prostaglandin until definitive surgery. * Mnemonic: ENDomethacin (indomethacin) ENDs ductus. PGEE (prostaglandin) kEEps ductus open. * Tricuspid atresia is a right-sided obstruction, a RA outflow tract obstruction. Blood backs up and goes across foramen ovale, becoming a cyanotic heart disease. * Will hear a single S2 heart sound. * Treatment is keep ductus open with prostaglandin until definitive surgery. * Treatment is Fontan procedure with Glenn procedure as first stage, connect SVC to pulmonary artery. This allows blood to return from the head and neck. When the child gets older, you do the second step Fontan procedure. This takes the IVC and connects to pulmonary trunk for passive return to the lungs. -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Total Anomalous Pulmonary Venous Return * Total anomalous pulmonary venous return is when 1 or all 4 of the pulmonary arteries return to the systemic circulation. So you have oxygenated blood going back to the venous circulation then coming back to the right side of the heart and back to the lungs. * Sounds like a left-to-right shunt, but the vessels take a long tortuous route, so they can kink off. If they kink off, blood backs up to the lungs, then backs up further, then you get right-to-left shunting and cyanosis. * Mixed blood will reach the left atrium via an ASD or foramen ovale. * CXR shows “snow man” or “figure eight” figure-8. * Diagnosis best test is echocardiography. -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Truncus Arteriosus * Truncus arteriosus is one common vessel coming out of the ventricles. So mixing with pulmonary trunk and aorta since they are connected at the base. * Cyanosis can occur depending on the type of defect and mixing. * Treatment is surgical correction. * Conotruncal defects associated with DiGeorge syndrome (hypocalcemic infant). * Single vessels from both ventricles supplying pulmonary and systemic blood flow. Always a VSD present. -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Hypoplastic Left Heart Syndrome * Hypoplastic left heart syndrome is underdevelopment of the left side of the heart. * Right heart has to do most of the work. Right heart is not made to pump against high resistances so it will eventually fail, pulmonary venous hypertension. * These patients will go into congestive heart failure within a couple of hours. * Diagnosis best test is echocardiography. * Treatment is with surgical correction. These patients do very poorly. -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Myocarditis * 7yo girl presents to the office with a three week history of progressive dyspnea, malaise, and fatigue. She has recently recovered from a viral syndrome. Physical exam is remarkable for a holosystolic murmur and hepatomegaly. This child is in congestive heart failure. * Myocarditis is an inflammation of the myocardium. * Viral causes include adenovirus and coxsackie virus, but diphtheria, rickettsia, fungal infections, and parasites can cause myocarditis. Can have connective tissue and granulomatous tissue diseases. * Heart failure is the most common presentation of myocarditis. Arrhythmias and sudden death are less common. * Infants have a more acute and fulminant presentation. * Viral myocarditis is usually preceded by a viral infection. * Fever, heart failure, respiratory distress, and cyanosis may all be present. * ESR (sed rate) is non-specific, may be high, not best test or first test. * LDH (lactate dehydrogenase) may be high. * Serum viral titers can be helpful if they are elevated or positive.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* PCR is good for viruses. * CXR is non-specific, showing a large heart and heart failure. * ECG shows sinus tachycardia, maybe a reduced QRS complex and abnormal S and ST waves. * Echocardiography shows poor ventricular function and possible pericardial effusion, can eliminate congenital heart disease as a cause. * Best test is endomyocardial biopsy for diagnosis. This is definitely not the first test or the most common test. * Treatment is heart failure management, arrhythmia management, pericardiocentesis if significant pericardial effusions to prevent tamponade, steroids controversial, heart transplant if patient is refractory to med management. * Prognosis is pretty poor. Spontaneous regression can occur. -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Endocardial Fibroelastosis (EFE) * EFE is characterized by a thickened, white, fibroelastic endocardium. * Can have primary or secondary EFE. Primary meaning no predisposing valvular lesion. Secondary has severe left sided obstructive disease. * Primary EFE will have a dilated left ventricle. Secondary will have a contracted ventricular cavity. * Usually these patients present with congestive heart failure. * Infants with CHF present with dyspnea, poor feeding, poor weight gain, sweating. * CXR shows a large heart. ECG shows LV enlargement, LV strain. * Echocardiogram, the best test, shows a poorly functioning left ventricle. * Treatment is medical management of congestive heart failure. If that fails, heart transplant. -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Acute Rheumatic Fever * 6yo girl complains of severe joint pains of her elbows and wrists. She has had a fever for the past four days. History reveals a sore throat one month ago. Exam is remarkable for swollen painful joints and a heart murmur. Lab tests show an elevated ESR and a high anti-streptolysin O (ASO) titer. * Rheumatic fever is caused by infections with group A beta-hemolytic strep. History of pharyngitis. * Skin infections with group A do not predispose to rheumatic fevers. * Usually this occurs 1-3 weeks after having pharyngitis. You do not need to treat strep pharyngitis right away. You can wait for the strep culture to come back. * JONES major criteria are carditis, polyarthritis, erythema marginatum rash, chorea, and subcutaneous nodules. Minor criteria are fever, arthralgia, elevated acute phase reactant (sed rate, C-reactive protein), prolonged PR interval on ECG, plus evidence of previous strep infection (strep culture, ASO titers). * JONES mnemonic: Joints, heart (carditis, O looks like a heart), Nodules, Erythema, Sydenham chorea. * ACCES mnemonic: Arthritis, Chorea, Carditis, Erythema, Subcutaneous nodules. * Two major Jones criteria is rheumatic fever. One major, Two minor, Plus preceding evidence of infection then also rheumatic fever. Diagnosis of exclusion and by criteria, no specific test. * Treatment is to manage strep infection (penicillin) then monthly penicillin until about age 21. Salicylates will help control the arthritis. Also treat the carditis. Steroids used if carditis and heart failure. Manage the heart failure. * Complications include valvular disease (mitral first, aortic next, tricuspid next, pulmonary last). -------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Endocarditis * 6yo boy has had high intermittent fevers for three weeks accompanied by chills. He has a history of bicuspid aortic valves and recently had dental work. * Endocarditis seen with high-outflow left-sided lesion and recent surgery (bacteremia). * Strep viridans is the most common cause of endocarditis. Staph aureus can occur particularly if no underlying heart disease. Strep viridans more common after dental procedures. Pseudomonas and serratia are seen with intravenous drug abusers. Fungal causes can occur after open heart surgery. * Endocarditis most commonly seen after rheumatic fever or congenital heart disease. * Higher risk occurs in patients with high velocity blood flow, like VSD or left sided obstructive lesion. * Fever is very important, can be high fever. Chills, arthralgia, new murmurs due to vegetations, splenomegaly, petechia. Neurologic complications associated with staph aureus. * Skin manifestations are usually secondary to vasculitis, Osler nodes, Janeway lesions, splinter hemorrhages (thromboembolic phenomenon). * Diagnosis is by blood culture. If you grow nothing and they spike a fever, culture again. * Echocardiography can reveal vegetations. * Treatment is with antibiotics and heart failure management.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

-------------------------------------------------------------------------------------------------------------------------------------------Cardiovascular: Hypertension * 5yo girl is noted to have blood pressure above the 95% on routine physical exam. The rest of the physical exam is unremarkable. Her blood pressure remains elevated on repeat measurements over the next few weeks. History includes treated urinary tract infection a year ago. CBC normal. UA normal. BUN 24, Creatinine 1.8. * Hypertension in older children (adolescents) is similar to hypertension in adults, essential hypertension. * Hypertension in a young child always has to be worked up. * BP needs to be repeated to confirm hypertension. * In children, a majority of hypertension is renal in relation. * Systemic hypertension is defined as BP above 95% for age on repeated measurements over a 6-week period. * Hypertension can be primary (essential) or secondary. Can be hereditary, salt intake, diet, obesity. * 75-80% of hypertension in children is caused by renal disease. * Look for prior UTI, hydronephrosis, premie with umbilical artery catheter causing thrombosis. * Hypertension usually does not cause symptoms and is usually found on routine physical exam. * DDx include coarctation so take pressures on all extremities. * All children with secondary hypertension should get a renal evaluation (start with ultrasound). * Echocardiography done to assess ventricular size and function. * Treatment is diet, exercise, limit salt intake, medications like diuretics, ACE-I, Ca-blockers, beta-blockers. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Pediatric Gastrointestinal with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Gastrointestinal: Abdominal Pain * Acute abdominal pain most commonly caused by gastroenteritis in children. * Look for age of child, male or female, quality of abdominal pain, localization. * Diagnostic tests vary by problem. Can order CBC, urinalysis, pregnancy test, serum amylase, CXR, abdominal films, CT scan of abdomen. * DDx < 2yo, trauma, intussusception, incarcerated hernias, volvulus, urinary tract infections, gastroenteritis. * DDx age 2-5, sickle cell anemia, lower lobe pneumonia, urinary tract infections, Meckel diverticulum, appendicitis (any child). * DDx adolescent females, Mittelschmerz, ectopic pregnancies, pelvic inflammatory disease. * Other DDx includes pancreatitis, Henoch-Schönlein purpura, mesenteric adenitis (e.g. from strep pharyngitis), lead poisoning, diabetic ketoacidosis, renal stones, cholecystitis. * Chronic abdominal pain is three or more episodes of abdominal pain severe enough to affect activities, occurring over a three month period. * Chronic abdominal pain occurs in 10-15% of children between the ages of 5-15. Causes include constipation, lactose intolerance, parasites, inflammatory bowel disease (IBD), peptic ulcer disease (H. pylori), pancreatitis, cholelithiasis, urinary tract infection, abdominal epilepsy (rare), porphyria (rare). * Abdominal epilepsy is the manifestation of the epileptic seizure. * Non-organic causes of recurrent abdominal pain in children include functional abdominal pain (irritable bowel syndrome, IBS). * May ask a child how it feels and they’ll say oh it hurts. Ask where it hurts and they say all over. * Child has episodes of abdominal pain occurring every school-day morning, doesn’t wake them up at night, goes away by noon, doesn’t affect play activity, doesn’t happen on weekends/holidays. This is school anxiety, maybe a bully. Similar to the kid who doesn’t want to use the toilet at school and has constipation. * Stressors can produce abdominal pain, exams, school, relocating to another house/town, family member illness, sibling rivalry. The patient has real pain here that they feel in their abdomen. * Irritable bowel syndrome can present as recurrent abdominal pain, can produce pallor, nausea, vomiting, lethargy, diarrhea, constipation. 30% will have nocturnal enuresis, fears, and sleep disturbances. Parents may have suffered from abdominal pains. * No one best test here. History is key. Physical exam may be normal. * If recurrent abdominal pain, reassure parents. Order CBC, sed rate, urinalysis. * Abdominal film may show a calcified mass (fecolith) near the appendix, ileus, obstruction. -------------------------------------------------------------------------------------------------------------------------------------------Gastrointestinal: Diarrhea * 13mo child has had a three day history of green watery stools. She has also been vomiting for one day. Exam reveals a febrile, irritable baby, with dry mucous membranes, and sunken eyes.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* This child is dehydrated. Cause is fluid loss in stool. * Most common cause of diarrhea in this age group is viral, particularly rotavirus. * Diarrhea is increased stool output with increased losses of fluids and electrolytes. Can be acute or chronic. * Secretory diarrhea (decreased absorption, increased secretion), osmotic diarrhea (maldigestion, transport deficits of non-absorbable solute), increased motility (decreased transit time), decreased surface area (short bowel syndrome, premature baby with necrotizing enterocolitis), mucosal invasion (inflammation, decreased colonic absorption, increased motility). * Causes of diarrhea are age dependent. Most common cause of winter-time diarrhea in young children is rotavirus, tend to have watery green stools that smell bad. * Other causes include food poisoning, systemic infections, parasites, antibiotic side-effects (e.g. C. difficile). * Most common causes of acute diarrhea in infant, child, adolescent is gastroenteritis. * Chronic diarrhea in children, worry about a post-infectious lactase deficiency. This is usually temporary, lasting a couple of weeks to a couple of months. * Chronic diarrhea of infancy is typically a child who has watery stools every day but is otherwise fine. Child is happy, well hydrated, gaining weight. Treatment is do nothing. * Chronic diarrhea causes include malabsorption like Celiac disease and cystic fibrosis. Giardia. IBS. IBD. * Adolescent with chronic diarrhea, IBS and IBD higher in differential, then lactose intolerance and Giardia, followed by laxative abuse (e.g. teenage girl worrying about body image). * Viral agents: rotavirus is the most common, adenovirus and Norwalk viruses. * Bacterial agents: E. coli (O157), salmonella (undercook poultry, raw eggs, pet turtle), shigella, campylobacter, yersinia, clostridium. * Parasitic agents: amebic dysentery, entamoeba histolytica, giardia, crypto. * Rotavirus will cause watery diarrhea, can last for 7-10 days. Can be accompanied by vomiting. May have some fever and can get dehydrated, particularly infants. * E. coli seen in nurseries and daycare. Enterotoxigenic E. coli (ETEC, traveler’s diarrhea). Enterohemorrhagic E. coli (EHEC) can cause enterocolitis and hemolytic uremic syndrome (HUS). * Shigella and campylobacter are usually person to person spread, from contaminated food or water. * Yersinia is associated with pets, usually puppies. Can develop an arthritis and rash. * C. diff associated with prior antibiotic use. Send stool for C. diff toxins. * Staph aureus food poisoning associated with an outbreak, 12h of eating, short lived, church picnic potato salad. * Entamoeba histolytica will cause acute bloody diarrhea. * Giardia associated with anorexia, nausea, abdominal distention, foul-smelling stool. Can get stool for ova, cysts, and parasites. Or can do a duodenal aspiration for giardia. String test (old test) where you swallow a capsule that has a string in it, it dissolves, you pull the string out the stool and check for Giardia. * Cryptosporidium not usually seen in immune-competent. In AIDS, causes persistent chronic watery diarrhea and is almost impossible to eradicate. * Can send stool for cultures of shigella, salmonella, E. coli, campylobacter, yersinia, and so on. * The best test to diagnose diarrhea is stool studies. * Treatment is usually supportive. No need to give anti-spasmotics. Give fluids by mouth, if too sick give by IV. Do not give medications that “stop” diarrhea, they just slow peristalsis and you still have the large watery stool inside. * Treatment of salmonella is not recommended because it prolongs the carrier state. Salmonella hides in the gallbladder. Treatment only indicated if the patient is < 3mo, really sick, has disseminated disease, or S. typhi. * Treatment of shigella with trimethoprim/sulfamethoxazole (TMP-SMX). * Treatment of campylobacter is supportive, generally self-limiting, erythromycin helps decrease sickness period and period of contagiousness. * Treatment of yersinia is supportive. If < 3mo or septic, treat with antibiotics. * Treatment of C. diff with metronidazole or vancomycin, stop other antibiotics. * Treatment of entamoeba with metronidazole. * Treatment of giardia with metronidazole of furazolidone. -------------------------------------------------------------------------------------------------------------------------------------------Gastrointestinal: Constipation * 6yo boy complains of hard bowel movements every 5th day. Exam is normal for weight and height. Abdomen is soft and hard stool is palpable on rectal exam. * Constipation is the infrequent passage of hard dry stools. Obstipation is the inability to pass any stools. * Most common cause of constipation is voluntary withholding, functional constipation. This is outside of infancy as an infant cannot voluntarily withhold.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Constipation can occur secondary to defects in filling or emptying of the rectal vault. Other causes include imperforate anus, Hirschsprung syndrome, infantile botulism (no honey in first year of life). * Constipation causes hard stools, sometimes liquid stools (looks like diarrhea) then encopresis. * Think about Hirschsprung anytime a neonate presents with constipation. * Diagnosis for Hirschsprung is by biopsy. Encopresis more commonly with functional constipation. * Functional constipation can occur with toilet training too early, child will toilet train on its own when ready. * Physical exam shows abdominal distension and poor weight gain in Hirschsprung. Anal tone normal in Hirschsprung and functional constipation. Rectal exam likely no palpable stool in Hirschsprung. With functional constipation, you will palpate hard stool immediately in the rectal vault. * Monometry can be done for functional constipation. Biopsy can be done too but shouldn’t need to get to that point. -------------------------------------------------------------------------------------------------------------------------------------------Gastrointestinal: Vomiting * Celiac disease causes bloating due to malabsorption and diarrhea. Will have buttocks wasting due to FTT and chronic diarrhea. * Just vomiting in neonate think obstruction (volvulus, malrotation). * Infant differential for vomiting includes GE reflux, food allergies, milk protein intolerance, overfeeding, inborn errors of metabolism (galactosemia, phenylketonuria). * Just vomiting in infants and up, think gastroenteritis. Then systemic infections, toxic ingestions, appendicitis, ulcers, pancreatitis. * Newborn presents with bilious vomiting with every feed. Abdominal film reveals a double bubble. Suspect duodenal atresia. Associated with trisomy 21. * Duodenal atresia presents early, usually first day of life, no abdominal distension. Treatment is surgical. * 4mo is admitted with episodes of apnea occurring 20-30mins after feeds. The mother states the baby has been spitting up since birth. She is at the 5th percentile for weight. This is GE reflux. Most babies will spit up a little bit, but the problem is when the baby is not gaining weight. * With GE reflux, lower esophageal sphincter pressure is reduced or inappropriate relaxation of sphincter, or hiatal hernia, or delayed gastric emptying which can back things up. * GE reflux occurs and then there is a reflexive laryngospasm, causing apnea. Can aspirate (coughing, wheezing). * Patients with developmental delay and cerebral palsy tend to have more reflux. * Symptoms of GE reflux vary, can have spitting up, forceful vomiting “gushes out”, apnea as presenting sign, chronic cough and wheezing due to aspiration, poor weight gain is significant. * Sandifer syndrome is GE reflux with opisthotonus positioning (spasmodic torsional dystonia). The back arching is a reflex mechanism to relieve the pain and prevent the reflux. * Best way to diagnose GE reflux is a pH probe. * Treatment is anti-reflux measures (sitting up when feeding/sleeping), thickening the feeds, medications (e.g. H2 blockers, prokinetics). * pH probe is placed in distal 1/3 of the esophagus and measures pH overnight, if pH drops too low for too long then you have your diagnosis. * Other studies for GE reflux include technetium “milk” scan or barium swallows. Best is pH probe though. * Anti-reflux measures include elevating the head of the bed, adding cereal to feeds to thicken, antacids, H2 receptor blockers, protein-pump inhibitors, pro-kintetics. * If medical management fails, surgical measures including Nissen fundoplication where a cuff is made around the esophagus to help prevent reflux. * Majority of patients will get better without treatment as they get older. * 4week old boy has non-bilious projectile vomiting. Exam is remarkable for a small mass palpated in the abdomen. * Pyloric stenosis is a gastric outlet obstruction, more common in males, more common in first born child, tends to be genetic predisposition. If one child with pyloric stenosis, 5% chance of another. If mother had pyloric stenosis, 25% of her having a child with pyloric stenosis. * Symptom is non-bilious projectile vomiting, usually around 3-4 weeks. Baby is hungry after vomiting. Vomiting is very forceful, gushes, shoots, like a hose, like exorcist. * May palpate abdominal “olive” mass on exam. May see/feel peristaltic wave on exam. May be jaundiced, may have weight loss, may be dehydrated. * Best test is abdominal ultrasound. Barium could be done but has to be sucked out. * Other lab findings include hypokalemic hypochloremic metabolic alkalosis due to repeated vomiting. * Pylorus will be elongated with a small outlet, showing a “string sign” with “mushroom cap” or “umbrella” as barium is squirted out into duodenum.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Ultrasound will show thickened wall, “donut sign”. Hole of donut is the opening, donut is muscular wall. * Treatment is surgical. First, rehydrate, correct electrolytes. Do pyloromyotomy and patient is eating again 8h later. -------------------------------------------------------------------------------------------------------------------------------------------Gastrointestinal: Bleeding * GI bleeding can be hematemesis (blood stained vomitus, upper GI), melena (soft black tarry stools, from any part of GI tract), hematochezia (bright red stool, lower GI, could be upper). Children have a quicker GI transit time and blood itself is a cathartic, so bright red blood in the stool could be from higher up, but generally is not. * Upper GI < 1yo think gastritis, swallowed maternal blood, peptic ulcer (duodenal and gastric), malrotation, volvulus. Upper GI > 1yo, think peptic ulcer, varices, gastritis. * For swallowed maternal blood, best test is Apt test. Apt test differentiates from fetal hemoglobin (belongs to newborn) versus adult hemoglobin (swallowed maternal blood). Swallowed blood could be from delivery or during nursing if mother has cracked/bleeding nipple. * Lower GI < 1yo think anal fissure (most common). Anal fissure could be from irritation due to diarrhea or hard stool that tore the wall. Other causes include intussusception, necrotizing enterocolitis, malrotation, volvulus. * Lower GI > 1yo think peptic polyp, intussusception, Meckel diverticulum, diarrhea, IBD, hemorrhoid. * 13yo girl complains of chronic cramping abdominal pain and diarrhea. She has noticed occasional blood in her stools. She has had fever off and on for three months and has complained of persistent right wrist pain. CBC shows anemia and elevated sed rate (ESR). -------------------------------------------------------------------------------------------------------------------------------------------Gastrointestinal: Inflammatory Bowel Disease * Inflammatory bowel disease (IBD) includes Crohn and ulcerative colitis. Both are characterized by exacerbations and remissions. Look for onset during adolescence. More common in Jewish and Caucasians, runs in families. * Crohn disease can have insidious onset and has more extra-intestinal manifestations than ulcerative colitis (UC). Can have fever of unknown origin, arthritis, skin manifestations, weight loss from chronic disease and malabsorption, cramping abdominal pain, diarrhea +/- blood, perianal disease. Sed rate is usually elevated, platelet count is usually high because it is an acute phase reactant, abdominal films can show small bowel obstruction, upper GI shows thicker folds and narrowing of GI tract (“string sign”). * Crohn has skip lesions affecting one segment then skipping to the next. May have fistula formation. * Best test to diagnose Crohn is colonoscopy (endoscopy) and biopsy. * Treatment is symptom relief including steroids, aminosalicylates (sulfasalazine, 5-aminosalicylate), chemotherapy (azathioprine), metronidazole for fistulas, cyclosporin, tacrolimus immune suppression, TNF-alpha, antibiotics can be used if you are unable to tell if there is underlying infectious disease so treat empirically. * Treatment for Crohn can involve hyper-al (hyperalimentation) if they are unable to gain weight with PO feeding, helps rest the gut that is inflamed. * Surgical management is reserved for failure of medical management, fistula formation, intestinal obstruction, and growth failure. * Complications include remissions/exacerbations, GI obstruction, malabsorption, anemia of chronic disease. * Ulcerative colitis is limited to the colon, can be insidious or fulminant. There is a mild, moderate, severe form. * UC associated bloody diarrhea and mucus, abdominal pain, tenesmus (straining at stool). * Mild to moderate UC is the most common manifestation, about 6 stools/day, no fever, usually no anemia. * Moderate disease will present with some anemia due to blood loss in the stool. * Severe fulminant disease can cause bad enough anemia that they need transfusion. Can have high fevers, leukocytosis, tachycardia. * UC is a diagnosis of exclusion. Need symptoms for 3-4 weeks prior to entertaining the diagnosis of UC. Sed rate is non-specific and not helpful. * Best test to diagnose UC is colonoscopy (endoscopy) and biopsy. * Treatment is symptom relief including steroids, aminosalicylates (sulfasalazine, 5-aminosalicylate). * Surgical treatment of UC is for failure of medical management. Surgery is total colectomy. -------------------------------------------------------------------------------------------------------------------------------------------Gastrointestinal: Intussusception * 15mo child is seen for cramping, colicky abdominal pain of 12h duration. He has had 2 episodes of vomiting and fever. Exam is remarkable for a lethargic child. Abdomen is tender to palpation. Leukocytosis is present. During exam, the patient passes a bloody stool with mucus. * In intussusception, part of the intestine (the intussusceptum) telescopes into the intussuscipiens, the distal part. Usually it is ileocolic, but can happen anywhere. * Intussusception usually idiopathic. Peak age is 6-24mo. Not usually older than 4 years of age. There has been

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Study Notes – Pediatrics

James Lamberg

28Jul2010

some association with lymphoid hyperplasia (mesenteric lymphadenitis), Meckel diverticulum, lymphosarcoma, polyps, cystic fibrosis, Henoch-Schönlein purpura, preceding gastroenteritis. * If surgery is done for intussusception, the entire intestine should be scanned for lead points such as polyps. * Rotavirus vaccine was originally associated with intussusception. There was a high amount of monkey serum in the oral vaccine, leading to mesenteric lymphadenitis and then intussusception. * History is acute onset of vomiting and colicky abdominal pain (pain comes and goes). May develop fever, lethargy, bloody stool with mucus (“current jelly stool”). * Exam may show sausage shaped mass in abdomen, the intussusception itself. * Patient can come in in shock, hypoperfusion, tachycardia, hypotension. * Best diagnostic test is barium enema, showing “coil spring sign”. It is also therapeutic by hydrostatic force, reducing the intussusception. If that does not work or it recurs, then call the surgeon. * DDx includes gastroenteritis, Meckel diverticulum (painless bleeding), Henoch-Schönlein purpura. -------------------------------------------------------------------------------------------------------------------------------------------Gastrointestinal: Meckel Diverticulum * 2yo boy presents with a one-week history of painless rectal bleeding. Physical exam is normal, rectal exam is unremarkable. Meckel diverticulum is the most frequent congenital anomaly of the GI tract. * Meckel diverticulum is a remnant of the omphalomesenteric (vitelline) duct. * Disease of 2s: 2% of infants, 2 years of age, 2 types of tissue (ectopic gastric mucosa), 2cm of size, 2ft from iliocecal valve. * Presents as painless rectal bleeding, can cause intussusception, can mimic appendicitis if inflamed. * Best test for Meckel diverticulum is the technetium “Meckel” scan. Technetium is taken up by gastric tissue. Since this is ectopic gastric mucosa, it will be taken up in the stomach and in the lower abdomen. * Treatment is surgical removal. -------------------------------------------------------------------------------------------------------------------------------------------Gastrointestinal: Reye Syndrome * 8yo is seen in the ED with persistent vomiting and mental status changes. Exam shows he is combative and has a seizure, becomes apneic and requires intubation. Laboratory tests are remarkable for hypoglycemia and elevated ammonia. The patient had recently recovered from a viral URI. * This is not commonly seen anymore because we avoid aspirin in children who have viral infections. Another reason the incidence has dropped is because we are better at diagnosing other problems (e.g. mitochondrial, liver diseases) that mimicked Reye syndrome. * Reye syndrome is an encephalopathy with fatty degeneration of the liver. Look for history of recent viral infection. May say the patient was recently taking aspirin, but not as common these days. * Typical scenario: child has viral illness, gets over it, a week later starts having mental status changes and vomiting. * Stage I Reye syndrome is lethargy, vomiting, sleepiness. * Stage II Reye syndrome is confusion, lethargy. * Stage III Reye syndrome is decorticate positioning. * Stage IV Reye syndrome is decerebrate positioning. * Stage V Reye syndrome is flaccid, with apnea but still reactive pupils. * DDx includes encephalitis so lab testing would include spinal tap, showing normal CSF. * Lab tests tend to show elevated ammonia, transaminases, CK, lactate dehydrogenase, plus hypoglycemia. * Prothrombin time may be elevated. Liver biopsy shows fatty infiltration. * Treatment is supportive, maintain airway, treat seizures, treat hypoglycemia. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Pediatric Renal with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Renal: Vesicoureteral Reflux * 2yo girl presents with urinary tract infection. She has had multiple UTIs since birth but no follow-up studies. Exam is remarkable for ill-appearing child who has a temperature of 40C and is vomiting. * Vesicoureteral reflux is abnormal backflow back up toward the kidney. Can be caused by congenital incompetence of the ureterovesicular (UV) junction, can be familial, can be secondary to UTIs. * UTIs more common in males during 1st year of life. 10x difference between circumcised and uncircumcised males. Uncircumcised males have 1% incidence of UTI, circumcised males have 0.1% incidence of UTIs. * After first year of life, UTIs are much more common in females then males. * Incompetence of the UV junction means whenever you void the bladder pressure causes backflow up to the kidneys, even when it appears like you are urinating normally.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Vesicoureteral reflux is a cause of hypertension in young children. Most of the time, hypertension in children is caused by a kidney issue. * Testing includes voiding cystourethrogram, kidney and bladder ultrasound. * Grade I reflux occurs without ureter dilatation. * Grade II reflux is into the upper collecting system without dilatation. * Grade III reflux is into the upper collecting system with dilatation of ureter and kidney. * Grade IV reflux is grossly dilated ureter with reflux into kidney. * Grade V reflux is tortuous dilation of the ureter with reflux into the kidney. * Grade I-II usually gets better as the child gets older, so prophylactic antibiotics are all that is needed. * Grade IV-V need surgical reimplantation of the ureters to prevent reflux. Treatment is aimed to prevent renal scaring and nephropathy associated with vesicoureteral reflux. -------------------------------------------------------------------------------------------------------------------------------------------Renal: Post-Streptococcal Glomerulonephritis * 10yo presents with cola-colored urine and edema of his lower extremities. Exam shows BP 185/100, no apparent distress, lungs clear, regular rate and rhythm without murmurs/gallops/rubs. Medical history is remarkable for a sore throat that was presumed viral by his physician two weeks ago. * How do you tell the difference between viral and strep throat? Only with a culture. * Treat strep throat to prevent peritonsillar abscess, retropharyngeal abscess, glomerulonephritis, rheumatic fever. * Glomerulonephritis can occur 1-2 weeks after a streptococcal infection of the throat or of the skin (impetigo), with or without antibiotic treatment. * Post-Streptococcal Glomerulonephritis Triad: hematuria, edema, hypertension. * Patients may complain of fever, malaise, abdominal pain. May have anemia and decreased C3. * Urinalysis will show RBC casts and may show protein. * Need to demonstrate past infection with group A beta-hemolytic strep via DNAase antigens. * Antinuclear antibodies may be done to rule out lupus. Renal biopsy is usually not necessary. * Best test if kid has hematuria, edema, hypertension is DNAase looking for previous infection with strep. * Treatment is antibiotics to prevent spreading of this kidney-attacking strain, but this does not change the disease process. Treat symptoms, decrease BP with antihypertensives, watch fluids. * 95% will have complete recovery. Some may develop renal failure. * DDx includes lupus, hemolytic uremic syndrome, glomerulopathies. -------------------------------------------------------------------------------------------------------------------------------------------Renal: Alport Syndrome * School nurse reports a boy because he failed his hearing test at school. The men in this patient’s family have a history of renal problems and a few of the uncles are deft. A urinalysis shows microscopic hematuria. * Alport syndrome is the most common type of hereditary nephritis. * Alport is X-linked dominant (Mom’s uncles). * Look for hematuria and proteinuria, even microscopic. Hearing loss is the key. Cataracts can occur as well. * Renal biopsy should be done, showing thickened basement membrane. The membrane will then atrophy as the disease gets worse and will contain foam cells. * Treatment is supportive. They will develop end-stage renal failure later and will need dialysis and transplant. * Women tend to do better and have subclinical hearing loss. For males look for hearing loss and/or cataracts. -------------------------------------------------------------------------------------------------------------------------------------------Renal: Hemolytic Uremic Syndrome * 3yo child presents to the ED with a history of bloody diarrhea and decreased urination. The mother states that the symptoms began 5 days ago after the family ate at a fast food restaurant. At that time the patient developed fever, vomiting, abdominal pain, and diarrhea (food poisoning). Exam shows ill-appearing kid, pale, lethargic. * Many things can cause hemolytic uremic syndrome (HUS), not just E. coli O157:H7. * E. coli is transmitted from undercooked hamburger meat or unpasteurized milk. Hamburger should be cooked medium-well to well. Steak has E. coli on the surface, so when you put it on the grill it is hot enough to kill the E. coli. With the steak it is only on the surface. With hamburger, it is grinded all the way through. * HUS can be associated with contaminated swimming pools and apple cider. * Associations will include kidney problems, clotting problems, anemia. * Child usually < 4yo, may be recovering from viral gastroenteritis, maybe bloody diarrhea, maybe URI. One week after symptoms getting better, patient has oliguria, pale (anemia), weak, lethargic. * Will see a dehydrated patient on physical exam, could have hepatosplenomegaly. May have petechia because of the coagulopathy.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Tests to order are CBC, electrolytes, BUN, creatinine, urinalysis. * WBC may be elevated (leukocytosis), Hg low due to anemia, platelets from 20-100,000 (thrombocytopenia). Peripheral smear will show helmet cells and schistocytes due to hemolysis or burr cells (echinocytes). Coombs test will be negative. Urinalysis shows hematuria, proteinuria, increased BUN and Cr. * Treatment is symptomatic supportive, rehydrate, treat renal failure. Patients survive with good intensive care. * Complications include anemia, hypertension, acidosis, heart failure, diabetes, seizures. * DDx include thrombotic thrombocytopenic purpura (TTP, usually young women with fever, decreased platelets, and skin manifestation), lupus, malignant hypertension, bilateral renal vein thrombosis. -------------------------------------------------------------------------------------------------------------------------------------------Renal: Nephrotic Syndrome * 3yo presents to physician with chief complaint of puffy eyes. Exam shows no erythema or evidence of trauma, cellulitis, or conjunctival injection. Examination show edematous face and feet with shiny skin due to stretching (edema). The mother is concerned because the child’s underwear and socks leave marks in the skin (edema). * Nephrotic syndrome, like many of these other syndromes, occurs after recovering from a viral illness. * Look for proteinuria, hypoalbuminemia, edema, and hyperlipidemia. * Nephrotic syndrome is classified as idiopathic (most common, minimal change disease) and glomerulonephritis (nephritic nephrotics). * 85% of all nephrotic syndrome is minimal change disease (aka nil disease, lipoid nephrosis). * Minimal change disease is more common in males, more common < 6yo. * Increased glomerular capillary wall permeability, causing a protein loss. This leads to lost oncotic pressure and edema. Hyperlipidemia occurs because the decreased protein stimulates protein synthesis and one of the proteins you make is lipoprotein. Decreased lipoprotein lipase due to decreased protein causes hyperlipidemia, you are not breaking down the lipoprotein. * Patient can present with pitting edema or generalized edema if they weighted long enough. * Patient can be tired, have lost appetite, and complain of abdominal pain. Usually no hypertension. * Exam will show edema, dehydration (third spacing), pleural effusion and ascites due to hypoproteinemia. * Labs to orders are urinalysis (proteinuria, hematuria) and blood (albumin, lipids). * Biopsy is not needed but would show effacement of podocyte foot processes under electron microscopy (EM). * C3 will be normal. C3 is low in glomerulonephritis but normal in nephrotic syndrome. * Treatment is diuretics and salt restriction. May give albumin. Steroids can help. Renal transplant is rarely needed. * Complications include infections particularly spontaneous bacterial peritonitis (SBP) usually caused by strep. Think about giving pneumococcal vaccine. Can get arterial and venous thrombosis. -------------------------------------------------------------------------------------------------------------------------------------------Renal: Urinary Tract Infections * 12d old infant presents with fever of 39C, vomiting, and diarrhea. Exam shows ill child who is mildly dehydrated. This could be a lot of things, like sepsis (group B strep, listeria, E. coli), meningitis, pneumonia, UTI. * This kid would probably get a spinal tap, blood culture, CBC, urine culture. * Pyelonephritis involves the upper urinary tract. Cystitis is an infection of the bladder. Asymptomatic bacteriuria is a positive urine culture without symptoms or renal injury. * UTIs are most commonly caused by E. coli. Viruses can sometimes cause infections, particularly cystitis. * UTI more common in males as infants then as females after 1yo. * Infants with UTI may present with fever, weight loss, FTT, vomiting, diarrhea. * Older children may have fever, abdominal pain, dysuria, increased frequency, enuresis. * With pyelonephritis, patient looks sicker. Older child will have flank pain, higher fever, chills. * The best test to diagnose a UTI is a urine culture. Don’t think blood tests, urinalysis, nitrates, leukocyte esterase. * Treatment is antibiotics. Treat other symptoms like dehydration. * Repeat urine culture in a few days to a week post-treatment to see that you have sterilized the urine. * Any boy at any time who gets a UTI requires a voiding cystourethrogram and an ultrasound. You want to make sure there are no posterior urethral valves or anatomic defects. * Any girls under the age of 5 with first time documented UTI requires voiding cystourethrogram and ultrasound. * Any girls over age 5, you can allow for one infection. Do testing after second UTI. Now they are responsible for their own hygiene, maybe not doing things right, need to be taught proper hygiene. * Once you get a UTI you are at higher risk for another UTI. Generally get monthly urine culture for three months, if negative then ever three months for a year, if negative then annually. * Children who show reflux, if mild, can be treated with empiric antibiotics to see if they outgrow it.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* If reflux is severe (Grade IV-V) they need surgical reimplantation of the ureters. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Pediatric Rheumatology with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Juvenile Rheumatoid Arthritis (JRA) * 7yo girl has been complaining of pain and swelling of the left wrist and right knee, off and on for the past three months. She has been previously healthy. The pain is worse in the morning and improves throughout the day. Physical exam is remarkable for swelling and effusion of the right knee with decreased range of motion. * Significant points here are two large joints affected and time-frame of three months. * Juvenile rheumatoid arthritis (JRA) has non-suppurative joint inflammation, effusions, destruction of joint cartilage, bone deformities, chronic course, morning stiffness that improves throughout the day. * There is no specific etiology for JRA, but there are specific triggers like Lyme disease at the third stage. Triggers can be infectious or environmental as well. * Polyarticular JRA implies many small joints. Pauciarticular JRA implies fewer joints but large joints (e.g. wrist, knee). Systemic JRA generally involves a fever and rash occurring before the joint manifestations. * Polyarticular JRA can be further subclassified into rheumatoid factor positive, usually older females with nodules. There is also ANA-positive, also females but younger onset. Seronegative polyarticular JRA occurs too. * Pauciarticular JRA does not have to be symmetrical distribution. Subdivided into ANA-positive, most common form of JRA, more common in girls, higher risk for eye involvement. RA-positive pauciarticular occurs, as well as HLA-B27 positive pauciarticular more commonly seen in boys, higher risk for ankylosing spondylitis. Lastly, there is seronegative pauciarticular JRA. * Child with fever of unknown origin for a few months, gets a macular salmon-colored rash with the fever, then starts to get joint involvement. This would be systemic JRA, can have pleuritis, pericarditis, hepatosplenomegaly. * There is no single diagnosis test for JRA. Look for onset less than 16yo, arthritis or 2+ of the following: limited range of motion, tenderness/pain on motion, increased heat in one or more joints, 6 weeks or more duration. * Polyarthritis occurs in 5 or more joints, else it is called oligoarthritic. Systemic is arthritis with fever. This is a diagnosis of exclusion, so rule out other differentials. * Sed rate is helpful but not diagnostic. C-reactive protein is usually elevated during acute exacerbations. * Can have anemia of chronic disease, leukocytosis, thrombocytosis, x-rays show soft tissue swelling. Later on you can see bone and joint changes. * Treatment goal is to preserve joint function and try to have a normal life. * Non-steroidals are the first line of treatment, such as ibuprofen or naproxen. * Next step is methotrexate or anti-malarials. * Steroids have very few indications in JRA. Useful in lupus. * Physical therapy is very important to maintain joint function. * Differential includes rheumatic fever, lupus, ankylosing spondylitis, osteoarthritis, Lyme disease, leukemia. Systemic Lupus Erythematosus (SLE) * 10yo girl presents with fever, fatigue, and joint pains. Physical exam is remarkable for a rash on the cheeks, swelling of the right knee, and a pericardial friction rub. She is anemic, has elevated blood urea nitrogen, and an elevated creatinine. * 9yo Haitian girl presents with a two-month history of malaise and anorexia. Father has brought child to every doctor he can find but the child still has no diagnosis. She shows up with a hemoglobin of 5, tachycardia, hypotensive, has decreased breath sounds, and has a hypopigmented rash spread on several places on the skin. Chest x-ray shows a large pleural effusion. BUN and creatinine are elevated. * Differential diagnosis includes lupus, TB, rheumatoid arthritis, maybe sarcoidosis, malignancy, HIV. * Pleural effusion is tapped and shows acid-fast negative, non-malignant cells. PPD and HIV are negative. ANA double stranded is positive. This patient has lupus. * Lupus is an autoimmune inflammatory disease affecting multiple systems. * Etiology is unknown, probably multifactorial. * Auto-antibodies exist, particularly to double-stranded DNA and other antigens. * Sunlight can exacerbate lupus. Medications’ can cause lupus, such as anticonvulsants, sulfa meds, antiarrhythmics. * Onset is usually after 8yo and is much more common in females. * Lupus patients can presents with fever, malaise, arthritis, arthralgia, skin manifestations (e.g. malar rash). * Pleural or pericardial rubs can occur, vasculitic rash can occur, serositis, GI manifestations from vasculitis, Libman-Sacks endocarditis, heart failure, majority of children have renal involvement. * CNS involvement can occur with seizures, stroke, or aseptic meningitis.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Vasculitis can occur similar to Raynaud phenomenon (blanching of fingers, red and blue too). * Mnemonic: MD SOAP N’ HAIR. Malar rash, Discoid rash, Serositis, Oral ulcers, Arthritis, Photosensitivity, Neurologic signs, Hematologic findings, Anemia/leukopenia/thrombocytopenia, Antinuclear antibody, Immunologic, Renal. * Best initial screening test is ANA. Best test is dsDNA (double-stranded DNA) but will only be positive during active disease. C3, C4, CH50 (total hemolytic complement) will be decreased during active disease. Anti-Smith antibodies only found in SLE patients. Nephritis is confirmed by biopsy. * NSAIDs can be used but remember that they are nephrotoxic. * Patients with thrombosis or anti-phospholipid antibodies need to go on anti-coagulants. * Steroids are the standard for treating lupus. * 5-year survival is greater than 90%, children usually die due to renal or CNS complications, or infections. * Associated neonatal lupus with congenital heart block. There is a transfer of antibodies and manifestations usually resolve except for the congenital heart block. Kawasaki Disease * 18mo has had fever for 10 days and now has conjunctival injection, a very red tongue, cracked lips, a red hand, and truncal rash. * Mucocutaneous lymph node syndrome (Kawasaki disease) is a diagnosis of exclusion. * Criteria include fever for 5+ days, changes in peripheral extremities (red palms/soles and indurative edema initially, membranous desquamation of fingertips later), polymorphous exanthem, bilateral conjunctival congestion, changes in lips and oral cavity (red lips, strawberry tongue, diffuse injections of mucosa), acute nonpurulent cervical lymphadenopathy > 1.5cm (least common finding). * Etiology is probably a viral agent, but unknown. * Kawasaki disease is seen under the age of 5yo. * Strep can cause finger peeling as well, but it usually does not go into the wrist like Kawasaki disease does. * What is the next best step in management? Answer is echocardiography. There is a high likelihood of coronary artery vasculitis. * Diagnosis is clinical; there is no test to diagnose Kawasaki disease. * Treatment is IV immune globulin. Can give aspirin to help with fever and high platelet count. * Complications include coronary artery aneurysms, coronary artery thrombosis, myocardial infarction, myopericarditis, congestive heart failure, uveitis, hydrops of gallbladder, aseptic meningitis, sterile pyuria (urethritis), thrombocytosis (late), peripheral artery aneurysm, diarrhea, polyarticular arthritis (early), pauciarticular arthritis (late). Henoch-Schönlein Purpura (HSP) * 5yo boy is seen with maculopapular lesions on his legs and buttocks. He complains of abdominal pain. He has recently recovered from a viral upper respiratory infection. CBC, coagulation studies, and electrolytes are normal. Hematuria and microscopic hematuria is present on urine analysis. * Think of Henoch-Shonlein purpura when palpable pupuric lesions occur after a viral infection or URI. * Purpura can occur anywhere, classically they occur from the waist down. * Henoch-Schonlein purpura is an IgA-mediated vasculitis of the small vessels. * Occurs between 4-8yo and more common in boys. * Can have edema, arthritis, GI symptoms including colicky abdominal pain, can get intussusception, blood in stool, renal manifestations in up to half of patients (hematuria, proteinuria, renal failure), seizures. * Most blood studies will come back normal. * Treatment is supportive. Give steroids for GI or CNS complications. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Pediatric Endocrinology with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Diabetes Mellitus * 8yo boy is seen in the ED with vomiting and abdominal pain of two days duration. His mother states he has been drinking a lot of fluids for the past month and reports weight loss during that time. Physical exam reveals a lowgrade fever and a moderately dehydrated boy who appears acutely ill. He is somnolent but asks for water. Respirations are rapid and deep (Kussmaul respiration). Labs reveal metabolic acidosis and hyperglycemia. * Diabetes mellitus results from a deficiency in insulin. It could be a defect in action and/or straight deficiency. * There is abnormal carbohydrate metabolism as well as protein and fat metabolism because of that. The cells do not get glucose so they start to break down other energy sources, such as fats leading to ketone body formation. * Type I diabetes is insulin-dependent, severe lack of insulin, seen in children.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Type II diabetes is insulin-resistant, can be seen in older obese children and adults. * Etiology is thought to be autoimmune, more common in patients with other autoimmune diseases, can be postviral, association with certain HLA antigens. Can run in families. * Initial presentation in most children is diabetic ketoacidosis (DKA). This is an acute presentation with polyuria, polydipsia, +/- polyphagia, and weight loss. * Up to 25% present with DKA, vomiting, abdominal pain, moderate to severe dehydration, Kussmaul respirations, lethargy, obtunded, thirst. * DKA occurs when glucose is > 300 in blood, have ketonemia, and acidosis. Usually pH less than 7.3. * DKA will come with ketonuria and glucosuria. * Criteria is symptoms of diabetes, random blood sugar > 200, or fasting blood sugar > 126, or 2hr glucose tolerance test > 200. * Treatment for diabetes mellitus type 1 is insulin, diet, exercise. * Treatment for DKA is fluids then insulin. Correct dehydration first. * Diabetes complications include retinopathy, cataracts, nephropathy, neuropathy, most occurring in adults. Congenital Hypothyroidism * 2mo patient appears to be having inadequate weight gain. His mother states he is constipated. On exam he has decreased muscle tone, a large fontanelle, a large tongue, and an umbilical hernia. * Congenital hypothyroidism is due to thyroid hormone deficiency; should be screened for. * Congenital hypothyroidism occurs in 1:1000 births, usually due to thyroid dysgenesis. * Patients may have prolonged jaundice, poor feeding, floppy/somnolent, large tongue, umbilical hernia, mottled skin, constipation, developmental delay. * The earlier you pick this up the better for development as the treatment is simply replace thyroid hormone. * A large posterior fontanelle is classic. The anterior fontanelle will close at about 9-18mo of age. The posterior fontanelle may be closed at birth but may close at 4-6mo of age. * Testing would show decreased T4, elevated TSH. Could also do a thyroid scan. Acquired Hypothyroidism * Thyroiditis is the most common cause of acquired hypothyroidism. * Down, Turner, and Klinefelter syndrome patient have a higher risk of autoimmune thyroid disease. * Radiation exposure and ingestion of iodides can lead to acquired hypothyroidism. * Growth deceleration is the first sign of acquired hypothyroidism. * Patients can develop constipation, cold intolerance, decreased energy. Usually schoolwork/grades do not suffer. Osseous maturation will be delayed. * Lymphocytic thyroiditis first signs are growth retardation and goiter. * Testing is via T4 and TSH, treatment is thyroid hormone replacement. Hyperthyroidism * 12yo girl has a six month history of hyperactivity and declining school performance. Appetites is increased but she shows no weight gain. Physical exam shows a slight tremor of the fingers, mild exophthalmos, and a neck mass. * Hyperthyroidism is caused by too much thyroid hormone and is almost always a result of Graves disease (diffuse toxic goiter). * Neonatal hyperthyroidism can occur when the mother has Graves disease. Newborn will have high metabolism, exophthalmos, poor weight gain, tachycardia. * Symptoms of hyperthyroidism develop over 6-12 months, can have emotional disturbances, hyperactivity, emotional lability, declining grades, tremors (if fine tremor, place sheet of paper over hands to see paper vibrate), eat well but do not gain weight, exophthalmos, sweating, flushing, palpitations, tachycardia. * Thyroid storm is a severe presentation that can cause death, not common in children. * Diagnostic tests are T4, free T4, T3 and free T3 (all elevated). TSH levels are low. * Medical treatment is propylthiouracil (PTU) or methimazole. Propranolol can reverse symptoms in severely toxic patients. Surgery or radioablation are reserved for failed medical management. Congenital Adrenal Hyperplasia * 1mo infant is seen with vomiting and severe dehydration. Physical exam reveals ambiguous genitalia. Labs show hyponatremia. * Most common cause of ambiguous genitalia is congenital adrenal hyperplasia. * Most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency. * Congenital adrenal hyperplasia results from cortisol deficiency which causes increased corticotropin secretion and enlarged adrenal glands. * This disorder is autosomal recessive.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* 11-beta and 3-beta are other forms, but 21-hydroxylase is most common. * 21-hydroxylase salt losing girls, virilization, ambiguous genitalia, vomiting. * 21-hydroxylase non-salt losing boys, premature sexual development. Girls will have pseudohermaphroditism. * Testing shows hyponatremia, hypochloremia, hyperkalemia, and elevated BUN in salt-losing. Plasma renin is high and aldosterone is low. 17-hydroxylase level is elevated. * Best test to determine sex of child is karyotype when ambiguous genitalia is seen. Could do a buccal smear and look for Barr bodies, but best test is karyotype. * Urinary 17-ketosteroids will be elevated in 21-hydroxylase deficiency. * Prenatal diagnosis can be made by measuring hydroxyprogesterone, androstenedione, cortisol in amniotic fluid. * Treatment is steroids. Glucocorticoids prevent androgen production and subsequent virilization. * When patient is ill, they need increased doses of steroids as body cannot produce them and body under stress. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Pediatric Hematology with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Iron Deficiency Anemia * 18mo child of Mediterranean origin presents to the physician for routine well-child care. The mother states that the child is a picky eater and prefers milk to solids. In fact, the mother states that the patient who still drinks milk from a bottle consumes 64oz of cow’s milk per day. The child appears pale. The hemoglobin and hematocrit were measured and the Hg is 6.5, Hct is 20, MCV is low. * Most likely diagnosis is iron deficiency anemia due to excessive milk intake. * In this age group, iron deficiency is most likely due to poor intake of iron. * Iron deficiency anemia is a microcytic hypochromic anemia commonly seen under 2yo, after that point the child can go out and get their own food. * This is the most common hematologic disease of infancy and childhood. * Risk factors include low birth weight, inadequate dietary intake particularly 9-24mo of age, and blood loss (e.g. peptic ulcer disease, Meckel diverticulum, polyps, hookworm, whole cow’s milk during infancy). * Patient will typically be on a diet of milk and not eating much else. * Mild anemia usually presents without symptoms. More severe anemia comes with lethargy, anorexia, irritability, and easy fatigability. Can present in high-output failure when Hg < 3 due to constant tachycardia. * Patient can be pale, have tachycardia, and can hear a murmur due to increased flow secondary to anemia. * Can have spoon nails (koilonychias) and splenomegaly on exam. * Reticulocyte count is usually not elevated compared to the degree of anemia. * Treatment is iron supplementation. * First test is CBC. Can have thrombocytosis. Then get serum iron levels and ferritin levels (decreased). Iron binding capacity and free erythrocyte protoporphyrin will be increased. Retic count increased after treatment. * Free erythrocyte protoporphyrin increases in iron deficiency anemia and lead poisoning. * Transfusions, if needed, should be done in small amounts else it can damage the heart, which is not use to a higher hemoglobin level. After transfusions bring up Hg a little, finish with iron. * Continue with iron supplementation for 4-5mo after hemoglobin has been in a normal range. * Need to teach parents about diet, do dietary counseling. * Complications include learning problems, developmental problems. * Differential includes lead poisoning, thalassemia, and anemia of chronic disease. Hemolytic Anemia * 2yo boy presents to the physician’s office for an ear check. The child had an ear infection that was treated with trimethoprim-sulfamethoxazole three weeks earlier. On physical exam the patient is noted to be extremely pale. Hg is 7 and Hct is 22. * Be suspicious for hemolytic anemia because of prior exposure to sulfa drug (G6PD here). * Hemolytic anemia is due to decreased red blood cell survival. This occurs with premature destruction caused by intrinsic RBC abnormalities (e.g. spherocytosis, G6PD). * Hereditary spherocytosis is the most common inherited hemolytic anemia, is autosomal dominant, and peripheral smear shows spherocytes. These RBCs get chewed up traveling through spleen and capillaries. Look for a history of family members that have had gallbladders removed or spleens removed or jaundice. May find splenomegaly on exam. Can see gallstones. * Spherocytosis treatment is folate therapy if mild. More severe spherocytosis is eventually treated with splenectomy after waiting as long as you can. After splenectomy, patients are at higher risk for encapsulated bacterial infections (e.g. pneumococcal disease), patient should get vaccinations to cover this.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Spherocytosis will have a negative Coombs. Test is osmotic fragility test. * G6PD is an enzyme problem leading to low enzyme activity and hemolysis. Peripheral smear will show blister cells and Heinz bodies, reticulocytosis. Can check for enzyme activity. * G6PD patients should avoid sulfa drugs, fava beans, anti-malarials, moth balls. Sickle Cell Anemia * 6mo African American infant presents to the pediatrician with painful swollen hands and swollen feet. * Sickle cell disease is caused by a valine substitution for glutamic acid at the 6th position of the beta chain. Mnemonic is G6V (like G6PD), or G6 to V. * This causes rigid crystals to form when oxygen levels are low. * Usually it takes about 2 months after birth for things to start happening because fetal hemoglobin is present. * After first month, start seeing hemolytic anemia and can develop hand-foot-syndrome (dactylitis). * Peripheral smear will show sickled-cells with Howell Jolly bodies (due to auto-splenectomy). * The crystals cause infarcts in the spleen, so in time the spleen is destroyed. So patients will be higher risk for infections with encapsulated organisms like strep pneumoniae. * Priapism can occur in males because sickled-cells get stuck in penis. * Vaso-occlusive episodes can repeat over time. Acute chest syndrome can occur with pulmonary infarcts, breathing problems, hypoxia due to shallow breaths (due to pain) which causes more cells to sickle. * Higher risk of infections. Can complain of chest pain, abdominal pain, back pain. * Vaso-occlusive episodes can cause ischemic damage, bone infarcts, splenic infarcts, pulmonary infarcts, stroke, splenic sequestration. * Best test to diagnose sickle cell is hemoglobin electrophoresis. * Can do a peripheral smear and CBC, but best test is electrophoresis. * Patients can develop gallstones (due to hemolysis, black stones). Immunize against pneumonia and H. influenzae, prophylaxis with penicillin, folic acid supplementation, aggressive in treatment with antibiotics. * Painful episodes should be treated with analgesics and proper hydration. * Some patients need transfusions, give oxygen as well. Some patients are on regular transfusion protocols. Hydroxyurea may be used. Some patients may eventually need bone marrow transplants. * Complications include infections including pneumococcus and salmonella (osteomyelitis). * Leading cause of death is infections. Thalassemia * 9yo has a greenish-brown complexion, maxillary hyperplasia, discoloration under the eyes, splenomegaly, and gallstones. Hemoglobin is 5. MCV is 65. * Thalassemia major (Cooley’s anemia, homozygous B) results from an imbalance of the alpha and betahemoglobin chains, too many alpha chains, ineffective erythropoiesis, hemolysis, reduced oxygen carrying capacity, ineffective iron absorption, red marrow expansion. * Constant hemolysis causing anemia will stimulate the bone marrow. Normally facial bone marrow is not a major source of blood cells, but these patients will recruit every bone they can. * Patients also can have a hair-on-end or hair-brush appearance on skull film, also seen in sickle cell kids along with chipmunk facies. * Patients usually become symptomatic at 6mo and up as they lose fetal hemoglobin. * Can be pale from anemia or more commonly greenish-brown, which is a jaundice from the hemolysis but not typical pure yellow. * Facial deformities occur from bone marrow expansion, splenomegaly, heart failure secondary to high output. * CBC shows Hg between 2-6.5, smear shows hypochromia and microcytosis, develop hemosiderosis. * Treat hemosiderosis with deferoxamine, a chelating agent. * Bizarre fragmented cells, unconjugated bilirubin (indirect) is increased. * Diagnosis is done by hemoglobin electrophoresis. * Treatment is recurrent transfusions and chelation due to iron overload from transfusions. Stem cell transplantation is also an option. Pure Red Blood Cell Anemia * 2wk old on routine physical exam is noted to have pallor. No icterus is noted. Birth history is uncomplicated and child has been doing well according to the mom. * Diamond-Blackfan syndrome should be suspected if a newborn child is already anemic. * Usually newborns have a hemoglobin around 18. * Important to note here is the child is not yellow; there is no hemolysis occurring. The child is pale because they are not producing red blood cells.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Diamond-Blackfan anemia is a pure red blood cell anemia, probably genetic, child is pale in first few days. * Child will be profoundly anemic between 2-6mo of age. * CBC shows macrocytic anemia. Bone marrow aspirates show erythropoietin but no bone marrow activity. * Treatment is long term transfusion, steroids help. * Patients will have iron overload because of all the transfusions. Fanconi Anemia * 2yo presents to the physician with aplastic anemia. Exam shows microcephaly, micro-ophthalmia, absent radii and thumbs. The patient has hearing loss on auditory testing. * CBC shows pancytopenia, all cell lines are not working. Autosomal recessive. Complete bone marrow failure. * Fanconi anemia is an aplastic anemia with congenital abnormalities. * Bone marrow aspiration will be hypocellular. * Cytogenetic analysis can be performed to confirm diagnosis. Prenatal diagnosis can be made too. * Therapy includes transfusion, antibiotics (due to lack of white cells), androgenic steroids, and eventually bone marrow transplantation. * At higher risk for AML. Acquired Aplastic Anemia * Look for a preceding viral infection (e.g. parvovirus Fifth disease) before patient shows up pale. * Environmental causes of aplastic anemia include ionizing radiation. Drugs include chemotherapy, chloramphenicol, anticonvulsants. Infections include parvovirus or mono. * Half of patients with acquired aplastic anemia has no history. * First sign of acquired aplastic anemia is hemorrhage secondary to thrombocytopenia. * Lab studies show decreased platelets, decreased red cells, decreased white cells, scanty bone marrow. * Diagnosis is confirmed with bone marrow after seeing CBC pancytopenia. * If environmental, remove from source. If bleeding, transfuse. Treat symptoms and infections. * Some patients will get bone marrow back, if not do bone marrow transplantation. * Most patients die from infections or bleeding. Idiopathic Thrombocytopenia Purpura (ITP) * 4yo child previously healthy presents with petechiae, purpura, and excessive bleeding after falling from a bicycle. * Parents bring a 3yo to you with a rash (actually is petechiae) and easy bruising. History reveals prior viral infection a couple of weeks ago. Physical exam reveals no other abnormalities. * Petechiae will particularly show up where the child wears underwear and socks due to pressure points. * CBC shows normal hemoglobin, normal white count, low platelets. * If you are going to treat an ITP patient with steroids, you should get a bone marrow. Else may not be needed. If the patient had leukemia and you started steroids, then you mask the problem. * ITP is the most common cause of thrombocytopenic purpura of childhood. There is no apparent cause for the platelet destruction, but it is immune mediated; developing anti-platelet antibodies. * 70% will have a previous viral infection. * Usually 2-6 years of age, gender M:F is 1:1. * Think ITP with bruising and petechial rash 1-4wk after a viral infection. Patient looks great otherwise. * Intracranial hemorrhage occurs in less than 1% of patients, mortality rate is very low with ITP. * Joint bleeding is very rare with ITP. * Bone marrow will be normal or show increased megakaryocytes. * The first test to order is a CBC, do not go to bone marrow right away if you think ITP. * Treatment is usually supportive, patients recover on their own. IV Ig does help, steroids help. Get bone marrow aspirate first before IV Ig or steroids. Usually IV Ig give them a bump enough so they don’t need steroids. * Other causes of thrombocytopenia include Wiskott-Aldrich (low IgM, recurrent infections, X-linked), KasabachMerritt syndrome (cavernous hemangioma trapping platelets, rare), also TAR or thrombocytopenia absent radius syndrome. * Petechia all over could be ITP (patient looks fine) or could be leukemia with thrombocytopenia. Hemophilia A * Hemophilia A (factor VIII deficiency), hemophilia B (factor IX deficiency), and von Willebrands. * Hemophilia A is most common, then von Willebrand, then hemophilia B. * Newborn infant has prolonged bleeding after circumcision. There is no family history of bleeding disorders. * Hemophilia A is X-linked recessive. It accounts for 80% of all hemophilias. 1:5000 to 1:10,000 males will be affected, usually a family history. * Bleeding can be seen at anytime, typically after circumcision or an IM injection. If you miss this in newborn

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Study Notes – Pediatrics

James Lamberg

28Jul2010

period, you’ll see it when the baby starts to move around more. * Hallmark of hemophilia A is spontaneous hemarthroses. * 90% of patients will have increased bleeding by age 1, bruising with ambulation resulting in hemarthrosis. * Diagnosis is via prenatal evaluation with family history, prolonged bleeding after circumcision (could be factor IX deficiency), so final diagnostic point is with factor VIII activity levels. * PTT is a nice screening test, but not fully diagnostic. Must get factor VIII levels. * Will also see normal platelet counts and normal von Willebrand factor. * Treatment is replacement of factor VIII. * Factor VIII is short-lived, so give only when they need it meaning when they’re bleeding. * DDAVP can help to increase factor VIII levels in some patients. * Tell patient to avoid contact sports, motorcycles, horseback, etc. Avoid aspirin. * Physical therapy is important to maintain range of motion and function in painful hemarthrosis joints. * Complications include developing inhibitors to clotting factors (more common in hemophilia A). Hemophilia B * 2yo presents to the pediatrician and is noted to have excessive bruising on physical exam. The mother says that the child’s skin is very sensitive to bruising. She notices the child gets epistaxis. There is a family history of bleeding. * You can’t tell the difference between hemophilias, which is why you order factor VIII, IX, von Willebrand. * Factor IX is a vitamin K dependent factor (II, VIII, IX, X, protein C and S). * Hemophilia B is X-linked recessive. * Exam is the same as hemophilia A. * Treatment is replacement of factor IX. Von Willebrand Disease (vWD) * Von Willebrand disease is an underproduction of von Willebrand factor/protein. This factor causes platelet adhesion, platelet-to-platelet aggregation, and is a carrier for factor VIII. * Patients will not have spontaneous bleeds into joints. * Present with nose bleeds. Most common cause of nose bleed is trauma or picking nose. * vWD is autosomal dominant so girls can get this. * Presentation also includes bleeding from gums, menorrhagia, prolonged bleeding from cuts, prolonged bleeding after tooth extraction. * Diagnosis is made by finding decreased vW factor. * Treatment is fresh frozen plasma (FFP), cryoprecipitate, or DDAVP. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Pediatric Oncology with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Leukemia * 5yo patient is brought to the physician’s office with chief complaint of limp. Exam shows low grade fever, URI symptoms, hepatosplenomegaly, and petechia. * 5yo with limp, think Legg-Perthes, osteomyelitis, toxic synovitis, acute trauma. But do any of those give hepatosplenomegaly or petechia? Now think leukemia, there are other systemic signs. * Leukemia is the most common childhood cancer. * Acute lymphoblastic leukemia (ALL) is the most common of the leukemias. * ALL is characterized by lymphoblasts in the bone marrow and in the peripheral smear. * Other names are acute lymphocytic leukemia and acute lymphoid leukemia. * Acute implies short-term symptoms, such as 3-4 weeks. * Peak incidence of ALL is 3-4yo and is more prevalent in white children. * Risks are Down syndrome, ataxia telangiectasia, von Recklinghausen, and sideroblastic anemias. * Twin of child with ALL is at higher risk of developing ALL. * Treatment (chemo, radiation) of one malignancy can setup the patient for another malignancy. Example, radiation therapy for Hodgkins can setup the patient for a secondary malignancy. * Parents or patient will complain of child having of a non-specific viral illness then symptoms. * Symptoms include anorexia, irritability, lethargy. Some symptoms are related to anemia. * Bone marrow failure leads to pallor, bleeding, and fever. Thrombocytopenia can cause petechia everywhere. * Huge “node” in armpit is not a lymph node, it is a leukemic infiltrate. * Bruising around eyes and subconjunctival hemorrhages may look like child abuse, but it is due to thrombocytopenia. Signs are secondary to bone marrow failure. * Child may have lymphadenopathy and hepatosplenomegaly.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Up to 1/4 of children will complain of bone pain. * First test for this patient with pallor and petechia is a CBC (with peripheral smear). * CBC may show a low, normal, or elevated white count. Peripheral smear will show blasts. * CBC may show anemia and thrombocytopenia. Important portion is smear showing blast cells. * Best test to diagnose ALL is bone marrow aspirate and biopsy. * Bone marrow will show lymphoblasts. * X-ray should be obtained to look for a mediastinal mass. * Always do a lumbar puncture to check CSF for malignant cells. CNS is a common place for the leukemia to go. As part of therapy, give intrathecal chemotherapy and do surveillance lumbar punctures. * No real staging for leukemia because by definition it has already spread (it is in the blood stream). * Therapy begins with induction of remission: vincristine, prednisone, L-asparaginase. Protocols differ depending on if it is null cell, or Kell antigen positive, presenting counts, patient’s age, and so on. * CNS prophylaxis is intrathecal methotrexate. CNS radiation affects growth and can cause secondary malignancies. * Treatment in summary involves chemotherapy (e.g. vincristine) and intrathecal methotrexate. * After remission, go into consolidation and medications depend on presentation of patient. Then go on maintenance therapy and supportive therapy. * Goal is to wipe out bone marrow with chemotherapy and hopefully good cells come back. So there will be a pancytopenia, thus transfusions are needed, watch for bleeding (replace blood products), watch for infections. * Bone marrow is most common site of relapse. Relapse also occurs in the CNS and in the testes in males. * Prognosis is least favorable if < 2yo or > 10yo. * Prognosis is poor with white counts > 100,000. * Cure rate for children is close to 90%. * 5yo patient is brought to the physician’s office with chief complaint of limp. Exam shows low grade fever, URI symptoms, hepatosplenomegaly, and petechia. CBC shows WBC count of 75,000 with 96% blasts. Bone marrow aspiration confirms diagnosis of ALL. Chemotherapy is initiated. What should we be worried about? * Tumor lysis syndrome occurs in any big mass that is treated. * Tumor lysis syndrome can occur before chemotherapy but more so after chemotherapy. You lyse lots of cells and they release toxic agents, leading to renal problems, acid-base imbalances, uric acid problems. * Hyperuricemia can occur, so hydrate patient and alkalize urine. Can give allopurinol to reduce production of uric acid. Hyperkalemia and hyperphosphatemia can occur so follow electrolytes. Hyperphosphatemia can lead to hypocalcemia. * Differential includes aplastic anemia, mononucleosis (fatigue, pallor, anorexia, atypical lymphocytes), rheumatoid arthritis (joint pain, fever, anemia), other malignant tumors (pancytopenia), pertussis (high white counts). Lymphoma (Hodgkin) * 16yo boy presents with complaints of weight loss, fever, and night sweats. On physical exam he is noted to have a non-tender cervical lymph node that is 4x5cm. * Lymphoma is divided into Hodgkin and non-Hodgkin. * Hodgkin is responsible for 5% of lymphoma in children and adolescents. There is a bi-modal peak from 15-30yo and another at 50yo and up. Seen in older children and adolescence. May have a pre-existing immunodeficiency but majority of cases are spontaneous. May be a relationship with Epstein-Barr virus. * Reed-Sternberg cell is the histologic feature of Hodgkin lymphoma. * Four types of histology: lymphocyte predominant, nodular sclerosing, mixed, lymphocytic depleted. * Lymphocyte predominant has best prognosis, lymphocyte depleted has worse prognosis. * Look for localized adenopathy. Acute adenopathy is usually an infectious cause, but if it persists think Hodgkin. * Lymph node is the most common presenting symptom. * There may be a mediastinal mass so every patient needs a chest x-ray. * Presentation varies with the extent of the disease. Classic is night sweats, fever, weight loss. * Physical exam will show a firm, non-tender, enlarged cervical or supraclavicular node. We find lymph nodes in children in the head/neck region often, but if you find supraclavicular or axillary nodes you should be very concerned (unless there is a history of cat scratch for the axillary node). * Excisional biopsy of lymph node is how a diagnosis is obtained. Do a chest x-ray looking for mediastinal masses. May be followed up with a CT scan. * Order CBC to look for anemia and thrombocytopenia, sed rate, serum ferritin, serum copper, chest x-ray, chest and abdominal CT if needed, and gallium scan to look for metastasis. Bone marrow aspiration is indicated. * Stage I is single lymph node or single extra-lymphatic organ. * Stage II is 2 or more lymph nodes on the same side of the diaphragm.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Stage III is nodes on both sides of the diaphragm. Stage IV is disseminated lymphoma. * Systemic symptoms (B symptoms) are fevers, night sweats, weight loss. * Treatment involves chemotherapy and radiation therapy. * Prognosis is very good for patients with early Hodgkin disease. Lymphoma (Non-Hodgkin) * 6yo boy presents to his primary care provider with a non-productive cough. The physician makes a diagnosis of an upper respiratory infection. However the patient’s symptoms persist and her returns to the physician. At this time, the patient is wheezing and the provider makes the diagnosis of reactive airway disease and prescribes a beta2 agonist. The medication does not improve the condition and the patient returns for a third visit. The patient is now complaining of cough and has a low-grade fever. The patient is diagnosed with clinical pneumonia and started on an antibiotic. Two days later, the patient presents in respiratory distress. CXR shows a large mediastinal mass. * Non-Hodgkin found in younger children. This is not an uncommon presentation. * Non-Hodgkin is characterized by proliferation of immature lymphoid cells that accumulate outside bone marrow. * Risk factors are pre-existing immunodeficiency. * Non-Hodgkin in children differ from adults in that they are extra-nodal and are as likely to be T-cell as they are Bcell lymphomas. * Types are lymphoblastic, large cell, and small non-cleaved cell lymphoma. * Presentation depends on where the primary is (e.g. site). * Most common presentation of a lymphoblastic lymphoma is an anterior mediastinal mass. Sometimes they have pleural effusions. The mass causes respiratory distress because of compromise of the airway, can cause a superior vena cava syndrome (patient plethoric from nipple line up, Pemberton sign). CNS can be involved. * Non-cleaved cell lymphoma is usually an abdominal mass, can cause pain, ascites and urinary tract obstruction. * Large cell lymphomas occur in the abdomen or mediastinum, skin, bone, soft tissue. * Physical exam depends on location of lymphoma. You may not get much on exam other than cough. * Non-Hodgkin is very aggressive so diagnosis is needed early with staging and treatment. * Labs to order are CBC, electrolytes, uric acid, LDH, creatinine, Ca++, phosphorus. These patients are at high risk for tumor lysis syndrome once treatment is initiated. * Order CXR, chest CT, abdominal and pelvic ultrasound or CT scan. Do bone marrow aspirate. * Stage I is single extra-nodal tumor. * Stage II is single tumor in 2 or more nodal areas on the same side of the diaphragm. * Stage III is opposite sides of the diaphragm. Stage IV is CNS or bone marrow involvement. * Treatment includes surgical removal of as much lymphoma as possible. Chemotherapy for all patients. Radiation therapy may be used for large tumors. If tumor is causing airway obstruction, radiate first to shrink prior to removal. * Complications include dissemination to bone marrow and meninges. Prognosis is good for stages I and II. Brain Tumors (Infra Tentorial) * Brain tumors are the most common solid tumors of childhood. * 2/3 of brain tumors in children are posterior fossa (infratentorial). Symptoms depend on location. * Intra-tentorial tumors include cerebellar astrocytoma, medulloblastoma, brainstem gliomas, and ependymoma. * Children < 2yo and adolescents tend to have more supratentorial tumors. * Supra-tentorial tumors include craniopharyngioma, optic glioma, and astrocytoma. * Study of choice is MRI for any brain tumor. * Not all brain tumors are malignant, but the problem is you have to go through normal structures (e.g. brain) to get to them or where they are compressing; so some morbidity associated with surgery. * Blood brain barrier affects ability to provide effective chemotherapy. * Posterior fossa tumors classically present with headache relieved by vomiting in the morning. What happens is the tumor is not large enough to cause symptoms but when the child lays down the tumor plops in and blocks the CSF flow. ICP increases, child wakes up in the morning, vomits, tumor moves because child is sitting up, flow starts. Eventually the tumor blocks CSF flow all the time and you get persistent headaches and vomiting (without nausea). * 10yo child presents to the physician because of a new onset seizure. The patient has a one month history of severe headaches and a progressively worsening wide-based gait. * Wide spaced gait is typical of a posterior fossa tumor. * Papilledema can be seen on retinal exam due to increased ICP, but this is a late sign. * Astrocytomas are posterior fossa tumors, usually cystic. Types are pinocytic (more common) and diffuse. * Cerebellar astrocytoma is the most common posterior fossa tumor of children. Prognosis is generally good. * Cerebellar astrocytoma can be in the midline causing headache and vomiting, or in a hemisphere which usually causes seizures. May cause hydrocephalus due to obstructed flow.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Cerebellar astrocytoma usually 5-10yo, parents may complain of personality changes. * Test of choice is MRI. * Treatment of choice is surgical resection, but that depends on location. * 6yo presents to the pediatrician because of headache and persistent emesis for the past week that is not associated with fever, abdominal pain, or nausea. * You can’t go by symptoms and call this medulloblastoma. You can diagnose a brain tumor via MRI then get the type of tumor via the pathologist. * Medulloblastoma (primitive neural ectodermal tumor, PNET) is the second most common posterior fossa tumor. It arises from the roof of the 4th ventricle, grows rapidly, and fills the 4th ventricle giving signs of increased ICP. * 3wk old infant is brought to the ED because of persistent vomiting and lethargy. Physical exam reveals a bulging fontanelle which is large and split sutures. Order a CT scan or MRI before you do a lumbar puncture. MRI shows mass, hydrocephalus, pathology shows PNET. * Medulloblastomas can metastasize to extracranial sites. Most prevalent < 7yo, more common in boys. * Patients can have onset of headache, neurologic impairment, seizures, hydrocephalus, ataxia sometimes. * Test of choice is MRI. * Treatment is surgical resection. If hydrocephalus persists, you need a shunt. Radiation and chemotherapy help. * Follow-up with serial MRIs to make sure nothing is growing back. * Prognosis depends on age at presentation and if the tumor has disseminated. * Poor prognosis is with < 4yo. * 9yo is brought to the physician by her parents because of personality changes. The parents state that over the past month the child has become very aggressive; arguing, hitting, biting other children. Her grades have dropped from straight As to failing. This is quite out of character for their intelligent, outgoing, friendly daughter. * Brainstem gliomas are posterior fossa tumors, the third most common of the group. * Brainstem gliomas can extend through the brainstem. Anaplastic astrocytoma has a poor prognosis. Midbrain and medullar astrocytomas have a better prognosis with surgery alone. * With brainstem gliomas, look for changes in personality. * Always pay attention to a child that complains of double vision. Be suspicious of a brain lesion. * Brainstem gliomas can have speech and gait disturbances, papilledema is a late finding. * Test of choice is MRI. * Treatment is difficult with surgery due to location. Limited radiation therapy or chemotherapy are used. * 5yo presents to the Emergency Department because of neck stiffness and torticollis for the past three days. They also have vomiting, headache, and papilledema. * Ependymomas can be supra- or infra-tentorial. Fourth ventricle is the most common location. * Presentation is of obstructive hydrocephalus. * Treatment is surgery (rarely get entire tumor out) then radiation and chemotherapy. Brain Tumors (Supra Tentorial) * 14yo girl presents to a physician because of short-stature. Physical exam reveals bitemporal visual field deficits. Head CT shows calcification of the sella turcica. * Any girl with short stature should be evaluated for Turner syndrome. * Once you have bitemporal hemianopsia, go for the head CT. * Craniopharyngioma is the most common supra-tentorial tumor, may see enlarged sella turcica on skull films. * Patient can present with short stature, peripheral vision loss, hydrocephalus, papilledema. * Test of choice is MRI. * Treatment is surgical removal then replace hormones because you removed the pituitary. * 4yo with neurofibromatosis presents to the ophthalmologist with complains of decreased visual acuity according to the parents. Exam shows proptosis and papilledema. * Optic gliomas are low-grade astrocytomas, can affect vision. Take double vision seriously in children. * Risk factors include neurofibromatosis (von Recklinghausen). * Chiasmatic tumor can lead to asymmetric nystagmus. * Treatment is delayed until tumor progresses, then treat depending on radiographic findings and visual changes. Either no treatment if normal vision, chemotherapy with tumor extending into optic canal, and chemotherapy with visual changes but tumor not extending into optic canal. * Mother brings her 3yo child to the physician because she found an abdominal mass while bathing the child. The child has been in her usual state of good health according to the mother. Review of vital signs reveals an elevated blood pressure. This is Wilms tumor (nephroblastoma). * Hemi-hypertrophy with aniridia are seen in Wilms tumor. Majority just present with an abdominal mass.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Since nephroblastoma is in the kidney, it will distort the renal outline on radiographic exam. * Wilms tumor is the most common abdominal neoplasm in children. Associated with congenital anomalies of the genitourinary tract, associated with hemi-hypertrophy and aniridia. * Wilms seen around 3yo, can be an asymptomatic abdominal mass. May complain of abdominal pain and vomiting. * Up to 60% will have hypertension. * UA can show hematuria. * Test of choice is abdominal CT scan. Always look for metastasis. * Stage I is in a single kidney with intact capsule. Stage II is with an involved capsule. * Stage III is ruptured capsule without spread. Stage IV is metastasis. * Stage V is bilateral kidney involvement, very poor prognosis * Treatment is to remove the tumor. If anything left, radiation and chemotherapy. * Majority of patients do well with tumor removal. Prognosis is poor if tumor returns after surgery. * Differential includes neuroblastoma, which can occur in the abdomen. Neuroblastoma would most likely be on the adrenals, pushing kidney downward but not affecting calyces. * 2yo is brought to the physician because of bluish skin nodules, periorbital proptosis, and periorbital ecchymosis that has developed over the past few days. Exam reveals a large smooth abdominal mass. * Neuroblastoma arises from neural crest cells so it can occur anywhere along that development line (e.g. neck, abdomen, chest). They represent 8% of all childhood tumors. Most common solid malignancy outside the CNS. * 70% are in the abdomen and half of those are in the adrenals. * Testing should include catecholamines in the urine because the tumor is in the adrenals. * May be hematogenous spread to the liver. Can present with abdominal mass. Hypertension can occur due to catecholamine release from adrenals. * Thoracic tumors will cause respiratory symptoms, like persistent coughing, abnormal CXR. * Head and neck tumors may be palpated or come with Horner syndrome. * Other symptoms include back pain, limping, lower extremity weakness depending on location. * Periorbital hemorrhaging can occur. * CT scan of the abdomen will show an extra-renal mass. * Order urinary catecholamines, vanilla mandelic acid (VMA) and homovanillic acid (HVA). * Biopsy tumor to determine pathology. * Stage I is located at site of origin. * Stage II is divided into A and B, extends beyond site of origin without ipsilateral node involvement. * Stage III crosses the midline. Stage IV is distant metastasis (goes to bone and brain). * Stage IV-S is small primary tumors in infants less than a year. * Children < 1yo with neuroblastomas can have spontaneous regression. Some think it may be a different disease. * Treatment is surgical removal for stage I and II, then chemotherapy. Rhabdomyosarcoma Botryoides * A mother brings her 3yo daughter to the physician because the girl has “grapes” growing out of her vagina. * Rhabdomyosarcoma is the most common soft tissue tumor in children. It is a round-cell tumor, seems to come from the striated muscle. There is different subtypes, embryonal, botryoides (grape-like). * Most common presenting sign of rhabdomyosarcoma is a mass, which affects symptoms. If the mass is in the nose, they may have congestion, mouth breathing, epistaxis. Face or cheek location can cause paralysis, swelling, pain. Trunk can look like a hematoma. Genitourinary tract can cause hematuria or obstruction to urine. Females can have botryoides tumor coming out of vagina. * Diagnostic test depends on location. Head and neck should get a head/neck CT. Abdominal and pelvic tumors should get a CT of the abdomen. Bladder tumors should get a cystogram for help. * Order a bone marrow for these patients to see the extent of disease. * Treatment is surgical removal, but can be hard to fully remove. Chemotherapy and radiation may be required. * Differential includes other round cell tumors such as neurosarcoma, non-Hodgkin, Ewing sarcoma. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Pediatric Neurology with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Myelomeningocele * The pediatrician is called to the delivery room because an infant is born with a defect in the lumbosacral area. * Spina bifida is a spectrum of disease, also called spinal dysraphisms. * Spina bifida occulta is a defect in the vertebral arch. Usually highlighted by a dimple or tuft of hair on the lower back. It is the mildest form and is not very bothersome.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Meningocele is where the meninges herniate through the defect making a sac. * Myelomeningocele is where both the meninges and the spinal cord herniate through the defect. * Risk factors include some drugs, malnutrition (specifically folic acid), radiation. * Majority of patients will have defect in lumbosacral region. Usually have bowel and bladder incontinence. * Physical exam for myelomeningocele usually shows flaccid paralysis of lower extremities, absent deep tendon reflexes, absence of response to touch and pain which can lead to trouble. * 15yo girl is admitted with myelomeningocele is admitted to the hospital with burns on her feet. She was taking a bath, stepped in, and didn’t realize that the water was extremely hot. * Sometimes patients will have club foot or dislocated hips. Risk of burns, injury, pressure sores. * Majority of patients, if they are not born with it, will develop hydrocephalus. * Assume all spina bifida patients have latex allergies because they have multiple surgeries and may have to catheterize themselves on a regular basis due to urinary incontinence. * Diagnostic studies include alpha fetoprotein (elevated). aFP is down in Downs. * Prenatal vitamins with folic acid will decrease risk of spina bifida. * Treatment begins with repair of defect and treat hydrocephalus. Aggressively treat UTIs. Febrile Seizure * 18mo child is brought to the ED after having a generalized tonic-clonic seizure that lasted approximately 5 minutes. The parents say the child had been previously well but developed cold symptoms earlier today with a temperature of 39C. This is most likely a febrile seizure. * Febrile seizure is the most common seizure disorder in children, occurring in about 3-4% of children. * Typically seen between 9mo and 5yo. * Risk factors include rapid rise of temperature (no specific temperature number/level). * Risk of developing epilepsy in patients with multiple febrile seizures is 9% if there is also a family history of febrile seizures, a family history of seizures, an initial febrile seizure < 9mo, or a prolonged atypical seizure, or an abnormal neurological exam afterwards. * Otherwise, child with febrile seizure has about a 1% chance of developing a true seizure disorder. * Febrile seizure occurs with a rapid increase in temperature and is a generalized tonic-clonic lasting 10-15mins. * Anything outside that is an atypical febrile seizure, such as multiple febrile seizures in a single day. * With febrile seizures (via good history, no focal deficits), an EEG is not needed. * Treatment for febrile seizure is antipyretics. Treat causative if something like otitis media. Rule out meningitis. * Treatment should not include anticonvulsants because the seizure is caused by the fever. * If seizures continue, then you can use first-line anticonvulsants like lorazepam or diazepam. * They may have recurrent febrile seizures a few months later, generally they outgrown the condition. Infantile Spasms * 6mo infant is noted to have brief symmetric contractions more than 100x per day of the head, neck, and extremities onto the trunk. * Many times these seizures look like the Moro reflex (startle response). * Infantile spasms are brief symmetric spasms of the neck, trunk, and extremities usually beginning around 4-8mo. * Etiology is unknown but may have to do with corticotropin releasing hormone. * Usually occurs on sleep or initial arousal, but can occur all day long. * Three types are flexor spasms, extensor spasms, and mixed. * Characteristic EEG is hypsarrhythmia (means high and lofty waves). * Treatment is adrenocorticotropin hormone (ACTH) initially then prednisone. * Problems associated include tuberous sclerosis, inborn errors of metabolism, congenital infections, prematurity. Absence Seizures * 8yo child is referred to a pediatrician by a school nurse with reports of spacing out in class. During provoked hyperventilation in the office, the patient has a similar episode. * Petit mal (absence) seizures are characterized by a sudden cessation of motor activity with a blank stare. * Uncommon under the age of 5yo, predominant in girls. * Seizures usually last 30 seconds, no aura, blank facial expression, no post-ictal state. * Typical EEG is three-per-second spike and wave. * Treatment of choice is ethosuximide. Generalized Seizures * Generalized tonic-clonic seizure can follow a partial seizure. * Generalized seizures are associated with auras. Usually patients will be post-ictal for 30mins to 2hrs. * Pseudo-seizures are typically more thrashing about, patient may talk to you during episode.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Pseudo-seizures can occur with or without a true seizure disorder. EEG will be normal. * Myoclonic epilepsy consists of brief contractions and loss of body tone, tend to fall/slump forward. * Benign myoclonus of infancy is when the baby jerks as it is falling asleep. This goes away by 2yo, no issues. Partial Seizures * Types are simple partial seizures, complex partial seizures, and benign focal seizures. * Simple partial seizures are about 10-20 seconds in duration. Can be confused with motor tics but cannot be suppressed like a motor tic. * Complex partial seizures are associated with auras. * EEG in complex partial seizure shows temporal spikes. * Benign focal (rolandic) seizures can be associated with hallucinations (e.g auditory). Resolve by adolescence. Cerebral Palsy (CP) * Cerebral palsy is a disorder of impaired motor functioning and posture. * Onset is early, before birth, at birth, or during first year of life. This is a non-progressive disorder. * Majority of patients have rigidity and spasticity. Subtle finding could be a heal-cord contracture with raised foot. * 1.5-5 per 1000 live births is the incidence of cerebral palsy. No specific etiology. * Risk factors are intrauterine bleeding, infections, congenital malformations, intracranial hemorrhages, neonatal hypoglycemia, kernicterus, birth asphyxia (low APGAR is an uncommon cause). * CP characterized by the motor deficits, such as spastic diplegia, spastic quadriplegia, spastic hemiplegia, etc. * Most forms of CP are hypertonic, but extrapyramidal form is characterized by hypotonia. * Patients may have hypertonicity and spasticity such that they cannot control their own secretions. They cannot coordinate the motor movements, so higher risk of aspiration and GE reflux. * No diagnostic test. Diagnosis is clinical. * Goal of therapy is to help patients achieve maximum potential. Patients may have seizure disorders, mental retardation, and developmental delay. However, patients may be mistakenly thought to be mentally retarded because they have speech problems due to the rigidity; there are people in college with cerebral palsy. * Treatment can involve muscle relaxants, physical therapy, anticholinergics to dry secretions, seizure treatments, orthotics or bracing to prevent contractions, tendon cord releases, heal cord release surgery, club foot surgery. Progressive Mental Retardation * In CP, the insult has already occurred and thus it is a non-progressive disorder. * Types of progressive are acquired and inherited metabolic. * Acquired includes meningitis, very frequent seizures with hypoxia, chronic drug overdose, lead poisoning, vitamin deficiencies, infections, psychosocial deprivation. * Hereditary includes degenerative diseases with focal manifestations such as Friedreich Ataxia. * Friedreich Ataxia is an alpha tocopherol transfer protein defect, vitamin E deficiency, autosomal recessive, generally ataxia presents before 10yo, characterized by explosive dysarthric speech and nystagmus. * Friedreich Ataxia exam may show ataxia, absent deep tendon reflexes, lower extremities more involved, loss of vibration and position sense, high arched food (pes cavus), hammer toes, kyphoscoliosis. * Diagnosis is made clinically. There is no treatment. * Lesch-Nyhan is associated with self mutilation, biting at their lips and fingers. X-linked disorder of purine metabolism, accumulate uric acid. * Lesch-Nyhan kids will be alright at birth then have a delay in motor development. Can have choreoathetosis movements, spasticity, psychomotor retardation, gouty arthritis due to uric acid. Gout is really the only thing you can treat so give these patients allopurinol. * Diagnosis made with dystonia and self-mutilation. Definitive diagnosis is analyzing for hypoxanthine-guanine phosphoribosyltransferase (HGPRT). * Treatment is allopurinol for renal complications, behavior modification (good luck), restraints, possibly remove the teeth to prevent recurrent mutilation, try to reduce anxiety and stabilize mood. * Wilson disease (hepatolenticular degeneration) is a copper metabolism problem, Keyser-Fleisher rings in the eyes, autosomal recessive, basal ganglia degeneration, increased copper deposits in brain, liver, kidney, cornea, and low serum copper. Family history likely present. * Wilson disease usually has liver problems first before the brain. Patients may have tremors, drooling, fixed smile. Children will present with liver dysfunction and hepatomegaly. Look for Keyser-Fleisher rings. * Testing involves ceruloplasmin levels and finding low serum copper, then finding increased urine copper after penicillamine is given. * Imaging is CT of the brain and/or MRI of the brain. * Treatment is to reduce copper intake and increase secretion of copper by giving penicillamine (chelation).

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Fulminant liver involvement can progress to cirrhosis, may need liver transplant. * Metachromatic leukodystrophy (MLD) is autosomal recessive, deficiency in arylsulfatase A activity, can assay via chorionic villus sampling to look for arylsulfatase A deficiency pre-natal. * MLD test is metachromatic staining found on cresyl violet. * MLD types are late infantile, juvenile, and adult. Late infantile type has gait disturbance and hypotonia. Juvenile usually at 5-10yo, personality changes, doing worse in school. * Krabbe disease (globoid cell leukodystrophy) is a disorder of myelin destruction, autosomal recessive, deficiency in galactocerebrosidase, symptoms appear early in first few months of life. * Krabbe disease kids are very irritable (“crabby”), inconsolable, feeding issues, seizures, opisthotonus posturing. * Adrenal leukodystrophy is x-linked recessive, symptoms at 5-15yo, worsening school performance, behavior problems, gait abnormalities. * Mucopolysaccharidosis (Hunter, Hurler, San Filippo), Hurler and San Filippo are autosomal recessive. Hunter is X-linked recessive. Look for coarse facies, upturned/anteverted nose, generous eyebrows, short broad neck, umbilical hernia, visceromegaly, short stubby fingers, short stature, kyphoscoliosis. * Mucopolysaccharidosis can have cardiomyopathy and mental retardation. * Mucopolysaccharidosis is a congenital disease of gray-matter with visceromegaly. * Pediatrician examines a 5yo girl with hand wringing movement and autistic behavior. This is Rett syndrome. * Rett syndrome found in girls, usually onset is 1yo when they start losing milestones. There is an acquired microcephaly. Look for purposeful movement, specifically hand wringing. Autistic behavior with social withdrawal. * No diagnostic test for Rett although ammonia levels can be high. * Treatment is supportive care for Rett, give anti-convulsants for seizures. * Rett kids develop generalized tonic-clonic seizures and die in adolescence to third decade usually from a sudden cardiac arrhythmia. * Tay Sachs is a gangliosidosis, associated with cerebral degeneration secondary to lysosomal storage of a ganglioside, autosomal recessive, common in Ashkenazi Jews (1 in 30 carrier rate). * Tay Sachs babies are fine until about 6mo, then they start missing milestones. Develop seizures, hypotonia, blindness. Retinal exam shows cherry-red spot in the macula. No treatment. Hydrocephalus * 2mo infant is noted to have a head circumference greater than the 95%ile. At birth the child was 50%ile for head circumference and has grown since, while his body had not grown as well. Exam reveals a large fontanelle, widespaced sutures, dilated scalp veins, and cracked pot sound on head percussion (Macewen sign, hydrocephalus). * Hydrocephalus can occur as a result of impaired circulation and absorption of the CSF, or by increased production of CSF. Types are obstructive (non-communicating) and non-obstructive (communicating). * Obstructive hydrocephalus is usually caused by an obstruction in the ventricular system. Usually an abnormality of the aqueduct and a lesion in the fourth ventricle. * Non-obstructive usually results secondary to meningitis, subarachnoid bleed, loss of subarachnoid villi. * Presentation depends on age and how quickly the fluid accumulates. Slow might present as a kid with a big head, where fast might present with vomiting and papilledema. * Infants will have accelerated head growth, wide open bulging fontenelles, dilated scalp veins, Sunset sign where baby’s eyes are always looking down due to increased ICP. * Older children may have irritability, lethargy, poor appetite, vomiting, headaches, can have Macewen sign. * CT scan would show greatly enlarged ventricles, at the expense of brain. * Arnold-Chiari malformation should be suspected in a kid with fore-shortened occiput. * Arnold-Chiari type I is not associated with hydrocephalus and symptoms occur at adolescence, obstruction at caudal portion of the forth ventricle. Recurrent headaches, neck pain. * Arnold-Chiari type II, seen with spinal dysraphisms (spina bifida), progressive hydrocephalus, myelomeningocele. * Dandy-Walker malformation is a cystic expansion of the fourth ventricle, form of hydrocephalus. Will have a prominent occiput (versus shortened occiput in Arnold-Chiari). CT shows hydrocephalus with huge fourth ventricle. * Can do an ultrasound in infants placed on fontanelle. But best test is CT scan. * Therapy depends on cause of hydrocephalus. * Medical treatment includes acetazolamide and furosemide. * Surgical shunt may be needed from brain to abdomen, peritoneum will reabsorb the fluid. * Shunt complications include bacterial infections (think Staphylococcus epidermidis). Anterior Horn Cell Disease * Pediatrician examines an infant who is on the exam table in a frog-leg position with subdiaphragmatic retractions and absent tendon reflexes.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Spinal muscular atrophy (SMA) type I is called Werdnig-Hoffman disease. * Werdnig-Hoffman is a degenerative disease of the motor neurons, atrophy of anterior horn cells in the spinal cord and motor nuclei in the brainstem. So atrophy of motor nerve roots and muscles. * Werdnig-Hoffman is autosomal recessive. So odds of a second child being affected are 1 in 4. Onset before 2yo. Look for floppy baby, frog-leg posture, fasciculations specifically in the tongue. Tendon stretch reflexes are absent, children have normal intelligence, disease is uniformly fatal. * Electromyogram of Werdnig-Hoffman will show fibrillation. Creatine kinase will be normal or high. Muscle biopsy shows denervation. Nerve biopsy shows slow conduction. * No medical treatment to stop progression of the disease. Most die from respiratory failure, aspiration, pneumonia. * SMA type III is called Kugelberg-Welander disease is a juvenile form. * 9yo child presents to the pediatrician because of muscle pain and weakness in the lower extremities. The parents state that the child is refusing to walk. The patient was seen approximately 10 days ago with gastroenteritis. * Guillain-Barré syndrome (GBS) generally occurs with a preceding infection (e.g. campylobacter jejuni, mycoplasma). There is an ascending paralysis, polyneuropathy, any age affected. * GBS is gradual onset and can last days to weeks. Can affect muscles of respiration so intubation may be needed. * Tendon reflexes are lost early, weakness may progress to respiratory muscles, need to do a spinal tap (elevated protein, normal glucose, white count is < 10). * Nerve conduction studies show reduced conduction and slowed sensory nerve conduction. * Patients usually observed for symptoms, ventilator needed if respiratory compromise. * IV Ig may be used, some use steroids, some use immunosuppressive drugs or plasmapheresis. * Generally spontaneous recovery in 2-3 weeks. Maintain supportive care. Hereditary Neuropathy & Muscular Dystrophy * Teenager presents to the clinic with claw hands and stork-like lower extremities. * Charcot-Marie-Tooth disease is the most common genetic neuropathy, peroneal muscular atrophy, autosomal dominant affecting all generations, symptoms in late childhood or early adolescence. * CMT symptoms include gait disturbances, clumsiness with tripping over own feet, pectus excavatum by teenage years, tremors, sensory loss in a stocking-glove distribution. * Peroneal and tibial nerves are the most frequently affected, muscle wasting of lower legs (stork like appearance), claw hands, and nerves can be palpated. * Decreased sensory and motor nerve conduction. Test is a sural nerve biopsy, showing onion-bulb formation around the axons called interstitial hypertrophic neuropathy. * Definitive genetic diagnosis is via blood testing. * Treatment is brace with orthotics, nerve conduction studies, no cure or good treatment. * 3yo boy is brought to the pediatrician because the patient is clumsy. According to the boy’s parents he is having difficulty climbing stairs and frequently falls. Exam shows hypertrophy of the calves with proximal atrophy. * Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease, x-linked recessive, 30% are new mutations, first sign may be poor head control (head lag). * Pseudo-hypertrophy of the calves is due to fatty infiltration. Mild if any delay in early gross motor skills. Gower sign is seen by 3yo where the child crawls up on themselves due to limb-girdle weakness, may have Trendelenburg gait or duck-waddle when they walk, patients will eventually lose ambulation, develop poor coughing and pharyngeal weakness, cardiomyopathy, uniformly fatal dying from respiratory insufficiency or infections. * Treatment is supportive. * Diagnosis is made by muscle biopsy. Suspicion with exam and family history, blood test shows greatly elevated creatine kinase (CK). May get a history of malignant hyperthermia. * 5yo goes for surgery to get tubes put in his ears. After induction of anesthesia, the patient develops malignant hyperthermia. CK is hugely elevated. Further testing days later reveals Duchenne muscular dystrophy. * Death usually occurs by age 18 from respiratory problems, rarely heart problems. * Becker muscular dystrophy is a juvenile form of DMD, course is slower, pseudohypertrophy, cardiac and nervous system involvement, less common than DMD. Neurocutaneous Syndromes * 6yo presents to the pediatrician for routine evaluation. The child is noted to have 10 café-au-lait lesions as well as axillary freckling. This is von Recklinghausen (neurofibromatosis). * Neurofibromatosis (NF) is autosomal dominant, there are spontaneous mutations. Forms are NF1 and NF2. * NF patients are high risk for neurologic complications as well as malignant neoplasms. * Café-au-lait spots should be counted. For NF1, need 5+ spots > 5mm in size pre-pubertal or at least 6 spots > 15mm post-pubertal. There may be axillary or inguinal freckling. Lisch nodules are found in the eye, only seen on

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Study Notes – Pediatrics

James Lamberg

28Jul2010

slit lamp exam. 2+ neurofibromas, kyphoscoliosis, or optic glioma. Need 2 of these criteria for NF1. * NF2 needs one of bilateral CN VIII nerve deftness due to acoustic neuromas or a parent, sibling, or child with NF type 2. Bilateral acoustic neuroma is more common in this case. * NF-1 is on chromosome 17 (17 letters in von Recklinghausen) and NF-2 found in chromosome 22. * NF patients at higher risk for scoliosis, so could see this on exam along with the spots. * Neurofibroma is a nerve sheath tumor extending from skin, may occur in the cauda equina and spinal cord area. * Testing is routine CT scanning of the head, routine ophthalmology follow up. * 1mo infant presents with infantile spasms and hypsarrhythmia on EEG. An ash-leaf spot if found in the skin. * Tuberous sclerosis is a neurocutaneous syndrome with mental retardation, fibroangiomas, and hypopigmented spots of the skin. Children have seizures. Autosomal dominant, chromosomes 9 and 16 but 50% are new mutations. * Mental retardation is more common in patients that present with symptoms of tuberous sclerosis at a younger age in addition to the skin and brain, heart, lungs, kidney, eye, and bone can be affected. * 6mo is in the hospital for evaluation of a seizure. An ash-leaf spot is found. All of a sudden, the child goes into vfib cardiac arrest. The patient is defibrillated, but it happens again an hour again, then two hours later it happens then six hours later it happens. Electrophysiologic studies show a hamartoma in the conduction pathway, which is successfully ablated. * Infants can present with infantile spasms, high incidence of mental retardation, can have generalized seizures. * Shagreen patch can occur mostly on the lower back, looks like rough skin slightly raised sorta like varicose veins. * Tuberous sclerosis patients can have sebaceous adenomas that look like acne around nose. * Half of patients have rhabdomyomas of the heart, leading to arrhythmias. * May have ungual fibromas on the nailbeds of the fingers/toes, can have retinal hamartomas. * Tubers are the characteristic lesions on brain imaging, seeing periventricular calcified tumors on CT or MRI. * Order an echocardiogram of the heart looking for rhabdomyomas. * Treatment is seizure control. * Newborn child is examined in the nursery by the pediatrician. The patient is the product of a term spontaneous vaginal delivery without complications. Exam shows large facial nevus. * Port-wine stain is unilateral in the distribution of the trigeminal nerve and does not go away. * Sturge-Weber syndrome associated with facial nevus (port-wine stain) and is associated with intracranial calcifications, hemiparesis contralateral to the facial lesion, mental retardation with developmental delay. * Etiology is thought to be a vascular anomaly. * CT scan shows calcifications, sometimes can be seen on skull films. * If no mental retardation, therapy is conservative. * Treatment is to control seizures. If seizures are difficult to control, do hemipherectomy to take out affected calcified part of the brain. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Child Abuse with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------* Child abuse is divided into physical, sexual, non-organic failure to thrive, and Münchausen by proxy. Child Abuse (Physical) * 2yo presents to the ED with a skull fracture that the mother states that the child acquired after falling from a sofa onto a carpeted floor. During the physical exam, the child is alert and is noted to have old bruising on the buttocks and back as well as a cigarette burn on his palm. The mother states that the child falls a lot and is always touching things he should not touch. * Physical abuse is intentional injury to a child younger than 18yo by the parent, guardian, or caregiver, resulting in burns, bruises, lacerations, or any bodily harm. * Anybody can be a child abuser, it cuts across all socioeconomic strata. Profile is usually an adult under stress, lonely, and unhappy. May be inciting event causing the caregiver to physical abuse (e.g. loss of job, divorce, special needs child). Poverty increases risk. * Example would be special needs child with severe developmental delay, cries all the time, colicky baby, parent just worked their third double-shift to pay the bills, no one can keep the kid calm, parent gets angry and slams kid against the wall, then parent immediately worries “oh no, what did I do.” * Caregivers who are or were abused are at high risk for becoming abusers themselves. * 6wk baby has had vomiting for the past two weeks. Pediatrician examines and admits patient to the hospital. In the hospital the baby has a seizure. CT scan shows subdural hematomas. Exam showed large head, split sutures, tense fontanelle. Parent finally confesses that they shook the child. * The child who is physically abused my present with physical findings that are not consistent with the history of the

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Study Notes – Pediatrics

James Lamberg

28Jul2010

child’s developmental stage. Parents may have no explanation for the injury, or the story that both parents give is perfect and exactly the same (meaning the parents rehearsed the story). * Head trauma is the most common cause of death from physical abuse and more than 95% of serious intracranial injury in the first year of life is from abuse. * Parent or guardian may have delay in seeking the appropriate care for the injury. * Exam for fractures and bruises in various stages of healing, bruise pattern looking like an object, cigarette burn as a circular punched-out lesion that is uniform in size, immersion burns sparing folds (child draws legs up), bite marks, alopecia. Always check for retinal hemorrhage. * Shaken babies present with coma, seizures, apnea, evidence of increased ICP. * Retinal hemorrhage with subdural hematoma is shaken baby until proven otherwise. * The earlier that the child is abused under 6mo, the greater the fatality rate. * Intra-abdominal injuries are the second most common, lacerated liver, spleen, intestines. * Obtain a good history, good physical, take pictures. * Labs include CBC, platelets, coagulation studies, x-rays of the long bones looking for healing fractures. * Reporting child abuse is not only the physician’s duty but their legal obligation. You are not the detective, you are protected by the law. You cannot be sued for slander…parents may slash your tires or attack you, but can’t sue you. * If perpetrator says “you think I did it, don’t you,” you can say that it is not your decision or job to make. * Treatment is reporting, documenting, hospitalization if necessary, treat any injuries, counseling as necessary. * It takes a lot of force to leave finger marks on a child from slapping, there is soft tissue protecting the capillaries. * Loops marks are indicative of being hit with a telephone cable, coat hanger, or other wire object. * Any bite mark greater than 3cm across is an adult. Sometimes older bite marks show under UV (Wood) light. * Torus (spiral) fractures should make you suspicious for abuse. * 2mo is brought in with a depressed skull fracture after rolling off the bed. Most 2mo children do not roll over. Also, falling off the bed onto a carpeted floor will not cause a depressed skull fracture. This is abuse. * Child is brought in with burns on both legs in a stocking distribution and splash burns at the knees above the main burn. Parent says the child jumped into the tub and didn’t know the water was hot. Most children do not jump into a tube with both feet at the same time. This child was dunked into the tub of hot water. * Differential diagnosis includes impetigo (skin lesions), coining or cupping (folk remedy), insect bites, ITP, scurvy, syphilis, osteogenesis imperfecta (will have lots of fractures). Child Abuse (Sexual) * 3yo girl presents with green vaginal discharge, microscopic evaluation of the discharge reveals Gram-negative intracellular diplococci. This is gonorrhea. * Sexual abuse should be suspected with posterior forchette tear in girls and anal tears in boys or girls. * During routine exam, genital warts are found around the anus of a pre-pubertal child. This is sexual abuse. * Examination of the child should occur in the standard lithotomy position and/or knee-chest position. * Any sexually transmitted disease in pre-pubertal children is considered sexual abuse until proven otherwise. * Child sexual abuse is with a child under the legal age of consent with another who is significantly older than the child. Could be a 14yo, not just an adult. * May include molestation, sexual intercourse, incest, and rape. * The victim is usually a girl and perpetrator is usually a male, someone that they know. Not someone jumping out of the bushes or someone you see on T.V. Strangers are the least likely to be the perpetrator. * Boys under-report sexual abuse because they feel they should have protected themselves. * 97% of sexual abuse offenders are men. 1/3 of the victims are toddlers. * Do good physical exam, good history, appropriate cultures. * Sometimes the patient will complain of genital pain, anal trauma, recurrent UTIs, enuresis, encopresis. * They may tell their friend or mother. May have inappropriate sexual behavior that makes you suspicious. * Child may know about sexual behavior specifics not appropriate for their age. For example, a child may know what a penis looks like but is likely not familiar with ejaculation. * Many times there will be a completely normal physical exam. This does not mean something did not happen. A positive exam however is very indicative of sexual abuse. * Look for evidence of trauma, vaginal discharge, bite marks, bruising, pregnancy if old enough. * Hymen opening is generally < 5mm in girls < 5yo. It grows by 1mm a year up to 9 years of age. Be suspicious if larger than that, but not a diagnostic finding. * Check for STDs, hepatitis, HIV, send any cultures to lab if ejaculate is found. * Treatment is for STDs, infections, report abuse, counseling. * Reporting child sexual abuse is not only the physician’s duty but their legal obligation.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

Child Abuse (Non-Organic Failure To Thrive) * 4mo infant presents to the ED because the mother states that the infant has upper respiratory symptoms. The patient is less than the 5th percentile for weight and length at 3.5kg. Birth weight was 4.2kg. The mother states that the child takes 16oz of infant formula per day with cereal added. * Usually non-organic failure to thrive (FTT) is lack of calories. Usually it is in a younger child because older children can forage for food, opening the fridge or cabinets. * Factors contributing to non-organic FTT include inadequate nourishment secondary to insufficient knowledge from the parent, substance abuse, depression, poverty, retardation, emotional disturbances. * The parent usually does not give a good nutritional history. They may say “he eats like a pig” or “he’s always hungry” or “he eats like crazy” or “we always feed him.” You can watch the mom feed the child in the hospital. * The child may be very thin with prominent ribs and wasted buttocks because of loss of subcutaneous tissue. Look for dirty babies, long uncut fingernails, flat occiput (because they are ignored and left in their crib), may have a dull expression to their face because they get no interaction, impetigo or candidal diaper rash or thrush, developmental delay especially speech and social skills. * Treatment is to feed the baby in the hospital. If the baby starts to gain weight, you have your diagnosis. * Testing is not really needed especially if they are gaining weight on feeds. * Like other forms of child abuse, these cases need to be reported. * Maybe the mother just needs training, so social services and child protective services should be involved. * Differential includes hypothyroidism, cystic fibrosis, malabsorption, Celiac disease, organic FTT problems. Child Abuse (Münchausen By Proxy) * 3yo presents to the hospital with severe diarrhea. The mother is a nurse employed by one of the physicians on staff. She is well liked by the hospital team because she is so willing to help out, taking her daughter’s vital signs and feeding her. However, after three days of extensive therapy the patient shows no improvement. The medical team cannot understand why the child remains ill until a nurses assistant finds chocolates under the sheets while making the patient’s bed. (the chocolate is actually a laxative) * Münchausen by proxy is usually done by a female with some medical background (e.g. nurse). The person will get secondary gain by inducing illness in the child. * Child may have recurrent admissions, like 6 admissions for apnea. Multiple tests will be done, CT scans, pH probes, blood gases, but nothing will be found. Mother comes out of room and calls for a nurse because there is another apneic episode. Nurse comes in and baby is gagging and just catching its breath. They decide to put a camera in the room and find one night that the mother is putting a pillow over the baby’s face. * Parent, usually mother, fabricates or induces illness in the child. Parent may have a history of that type of environment, they may be creating their own symptoms for the parent them self. * Parent may be regarded as a model parent. Is doing this to get secondary gain, attention. * Parent may seem unconcerned about child’s illness and may form close bonds with the health care team. * Child is usually less than 6 years of age, when they cannot defend themselves. * Child usually presents with symptoms that are not compatible with recognized disease. * Exam may show chronic diarrhea from laxatives, rashes due to caustic substances, blood in stool or urine (urethra may be traumatized), recurrent sepsis from feces being injected under the skin, apnea from suffocation, seizures from injection of insulin. * If high index of suspicion, not many tests need to be run. Maybe try to catch parent in the act. * All specimens should be analyzed. Old medical records should be obtained and reviewed. Can get a court order for this to put a camera in the room and watch the parent interact with the child. * Once diagnosis is established, the offending person needs counseling (and may go to jail). Reporting is mandatory. * Complications include abuse, emotional problems, disability, death. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Adolescence with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Normal Adolescent Development * Definition of adolescence is the period that bridges childhood and adulthood. It begins at about 11-12yo and for most ends at 18-21yo. Puberty occurs during adolescence. * Major events of puberty include growth spurt, body composition changes, organ system changes, sex organ changes, secondary sex characteristics, hormone changes. * Most common causes of mortality in adolescence is motor vehicle accidents, then suicide (girls attempt more frequently, boys are more successful), homicide especially in African Americans, and cancer is 4th. * Common cancers in adolescence include Hodgkin and bone tumors.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Common causes of morbidity in adolescence are unintended pregnancy, sexually transmitted diseases, smoking, dropping out of school, depression, run away, physical violence, crime/juvenile delinquency. * Major outcomes of puberty are achieving adult size and appearance, clear distinction of sexes, and achieving the ability to reproduce. * Features of puberty include similar sequence of changes, variable timing of changes, variable rates of changes, permanence of changes, physical reflects hormonal. * Features of early adolescence (10-15) are physical changes and concerns, sense of being “center stage,” sense of invulnerability, wide mood swings, rejection of childhood things, beginnings of emancipation, non-parent adult role models, comparing self to peers, concrete thinkers, sometimes feel awkward, more comfortable with same-sex peers. * Features of middle adolescence are more independence, sense of identity, more comfortable with their bodies, mood swings continues, peers group is important, abstract thinking is beginning to develop, dating and experimenting, relationships are one-sided (what can I get out of this relationship), puberty is almost complete, testing or showing-off of new body, idealism and commitment to causes. * Features of late adolescence are less self-centered, mainly independent decisions/actions, established, realistic, self-identity, realization of vulnerability and limitations, definition of adult role in society and family, intimate dating, relationships with others are less one-sided, think about future. * 14yo girl who has not yet achieved menarche presents to the physician with her concerned mother. The mother is afraid that her daughter is not normal. Exam shows a well nourished individual in the 50th percentile for height and weight, breast exam shows enlarged areolar diameter but no separation of contours, pubic hair is increased in amount and is curled but not course in texture. The mother and daughter wait anxiously for your opinion. Answer is don’t worry about it, give it some time. * 15yo boy brought in by mother because she sees breast enlargement, one-sided gynecomastia. She wants to know if her son has breast cancer. They’ll describe the Tanner stage and you can say don’t worry about it. * Sequence of puberty in girls: breast buds appear, pubic hair appears, growth spurt, axillary hair, pubic hair matures, breasts mature, menarche (first period), adult height. * First sign of puberty in girls is breast bud development. * Menarche around 12-13yo depending on family, late event in puberty, growth rate slowing down, bleeding often irregular, many reasons for delay. Ask mother how old she was when she had menarche. * Menarche delay can occur in the physically active too, such as a marathon runner. * Sequence of puberty in boys: growth of testicles, pubic hair appears, growth of penis and scrotum, axillary hair, first ejaculations, growth spurt, facial hair. * First sign of puberty in boys is testicular enlargement. * Female Tanner I is pre-adolescent. Tanner II is breast budding (areola, papilla) * Tanner III is areolar enlargement with no separation of contours. * Tanner IV is areola with papilla and secondary mound. * Tanner V is mature female breast. * Pubic hair Tanner I is no pubic hair. Tanner II is long and straight, sparse. * Tanner III is curling and darker pubic hair. * Tanner IV is adult but not on thighs. Tanner V is onto the thighs. * Male Tanner I is pre-adolescent. Tanner II is enlargement of testicles. * Tanner III is growth in length and circumference of penis. Tanner IV is larger, darkening of scrotal skin. * Tanner V is adult penis, scrotum, and testicles. * Puberty starts at 11-12 in boys, 10-11 in girls. Growth spurt is 14 in boys, 12 in girls. * Spermarche is 13-14, menarche is 12-13. Length of puberty is 3-4 years in boys, 4-5 years in girls. * Common concerns about puberty include starting too late or too early, unequal development of breasts, breast tissue in boys, acne, dandruff, body odor, “I’m not normal.” * Boy brought in by mother because of unilateral breast enlargement. Exam shows normal sized testicles (not Klinefelter). Re-assure mother that this is normal. * Teenager may come in complaining of a cold for a couple of days. This isn’t normal, probably not the real problem. They’ll either wait until the end and say “by the way…” or you can approach the issue. Are you taking anything for your acne? We can help you with that. * Complications of adolescence are related to growth and development, morbidity and mortality. * Females may have amenorrhea, dysfunctional uterine bleeding, dysmenorrhea, STDs in both sexes. Sexually Transmitted Diseases * 16yo girl presents to her physician because of fever, chills, pain, and swelling in the small joints of her hands. There is a maculopapular rash seen on her upper and lower extremities.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Gonorrhea is an infection caused by Neisseria gonorrhea affecting mucous membranes and the GU tract. * Gonorrhea can affect the oropharynx, rectum, and conjunctiva. * Clinical presentation varies, may have urethritis, cervicitis, dysuria, may be asymptomatic. May disseminate. * Boys may have a purulent discharge and burning with urination. Girls may have purulent discharge, suprapubic pain, and dysuria. Cervix can be inflamed. Rectal gonorrhea can be asymptomatic. * Culture of discharge is the test of choice. Culture blood if you suspect disseminated gonorrhea. * Check for other STDs, like chlamydia. * Treatment of choice for gonorrhea is ceftriaxone, usually given IM injection. * Treatment can also include azithromycin or doxycycline PO because you worry about chlamydia. * Complications include disseminated disease, abscesses, pelvic inflammatory disease, Fitz-Hugh-Curtis. * Fitz-Hugh-Curtis syndrome is caused by adhesions from gonorrhea infection, “violin string” sign seen on exploratory laparotomy, patient may complain of RUQ pain with or without salpingitis. The RUQ pain is due to seeding of the liver capsule. * 17yo boy presents to the ED with a persistent penile discharge. He states that he visited his family physician last week for the same problem. At that time, they gave him an IM shot of penicillin. However, that did not help and he wants a second opinion. * Chlamydia can cause a variety of diseases in adolescence such as a non-gonococcal urethritis. * Patient may be asymptomatic or can present with urethritis, cervicitis, Fitz-Hugh-Curtis, PID. * Girls may have a mucoid discharge, boys may be asymptomatic. * Testing should include chlamydial cultures, can do antigen detection kits. * Treatment is azithromycin or doxycycline. If pregnancy, give erythromycin (tetracycline contraindicated). * Treatment should be for all sexual partners. * 15yo presents to her physician because she has a yellow foul-smelling vaginal discharge. Exam shows a strawberry cervix. * Trichomonas vaginalis is an STD more commonly seen in girls with multiple partners, can be transmitted to the neonate during the birth process, usually self limited. * Usually patients complains of pruritus and foul-smelling foamy/frothy vaginal discharge, can have cervical hemorrhages (strawberry cervix). * Saline prep wet mount can show trichomonas moving or “vibrating” on the slide. * Treatment is metronidazole, treat all sexual partners. * 17yo sexually active boy presents to the physician because of painful ulcerations on his glands penis and on the staff of his penis. He has multiple sexual partners and does not use condoms. Fever and inguinal adenopathy are also found on exam. * Herpes simplex affects the skin, eye, oral mucosa, CNS, genital tract. Type I may cause genital disease but is usually non-genital infection of the mouth, lips, eyes, and CNS (temporal lobe encephalitis). * HSV meningitis can be caused by someone with an oral lesion kissing the child. * Type II HSV is the sexually transmitted form, seen in teenagers and adults. Present with fever, regional adenopathy, and dysuria. Girls have vesicle ulcers on the vulva or vagina, cervix is primary infection site. * Test is the Tzanck smear (or stain) showing multinucleated giant cells or inclusion cells. * Treatment is acyclovir. Valacyclovir is another option that does not have to be taken as often. Acne Vulgaris * A mother brings her 15yo daughter to the dermatologist because she has developed pimples. The mother says the child’s face breaks out because she drinks soda pop. The daughter is argumentative about this but admits she drinks soda everyday at lunch. The mother would like you to tell her daughter to stop drinking soda. Exam shows open and closed comedones, and pimples on her forehead, nose, and cheeks. * Tell the mother soda is not good for the child, but has nothing to do with acne. * Diet has nothing to do with acne. Acne is caused by dirt, hormones, and bacteria (Propionibacterium acnes). * Types of acne include open and closed comedones, papules, pustules, and nodulocystic. * Physical exam shows the variety of lesions, can be anywhere (face, back). * Test of choice is your eyeballs, just look at it and determine that it is acne. * Treatment includes keeping skin clean by washing a couple of times a day with a mild soap. Cleaning several times a day can irritate the skin and worsen the acne. Avoid make-up, as it plugs pores. * Treatment does not involve dietary change, no need to eliminate soda, chocolate, greasy foods. * Topical preparations are a good start, such as benzyl peroxide or tretinoin topically. Apply topical tretinoin at night because it can cause photosensitivity. Also topical antibiotics. * Topical therapy takes a few weeks to work.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Systemic therapy is indicated if there is severe acne or not responding to topicals. Drug of choice is tetracycline, tell patient to avoid pregnancy. * Next step is hormonal therapy, such as anti-androgen like spironolactone. Last step is systemic isotretinoin, and you have to get a pregnancy test prior to starting therapy. May need patient to sign an agreement about pregnancy. * Corticosteroids can help as well as dermal abrasion. * Complications of acne include scaring, secondary infection/inflammation from popping zits, medication effects. -------------------------------------------------------------------------------------------------------------------------------------------Kaplan Videos (2001) – Congenital Malformation with Dr. Eduardo Pino, MD -------------------------------------------------------------------------------------------------------------------------------------------Beckwith-Wiedemann Syndrome (BWS) * Beckwith-Wiedemann syndrome (BWS) occurs in about 1 in 14,000 live births. Characterized by macrosomia and accelerated osseous maturation. May have mental deficiency, mild to moderate. * Physical exam will show macroglosia, which can obstruct the airway and cause feeding problems. * Exam shows large fontanelle and possibly a linear fissure in the ear lobe. * BWS babies are at risk for hypoglycemia, occurs in 1/3 to 1/2 of patients. * Can have organomegaly of the pancreas and kidney, can have an omphalocele. * Neonate will have apnea and cyanosis with feeding problems due to large tongue. Treatment for the macroglosia is wait for the child to get older and the mouth will grow around the tongue. * BWS babies are at higher risk for Wilms tumors and hepatoblastomas. * Treatment includes screening renal ultrasounds every six months until 6yo. Potter Syndrome * Potter syndrome babies have characteristic facies with small chin, small nose, low-set ear, and no kidneys. * Potter syndrome babies have bilateral renal agenesis that is incompatible with life. * They die from respiratory insufficiency due to poorly developed lungs. They could not urinate in-utero, so less amniotic fluid which helps with lung development. * Potter syndrome associated with a history of oligohydramnios, die from pulmonary hypoplasia. * Potter facies is hypertelorism (wide spaced eyes), epicanthic fold, low-set malformed ears, micrognathia, flat nose. * Pierre Robin sequence is a part of some syndromes or may be an isolated finding. Associated with severe micrognathia. Hypoplasia of the mandibular area, pushing tongue back and preventing closure of the palatal shelf so they may have a cleft soft palate associated with the problem. * Pierre Robin sequence associated with glossoptosis (tongue sticks out a little), relative macroglosia. * Patients may require tracheostomy until the airway reaches the proper size to not be a problem. * Pierre Robin syndrome can be a feature of other syndromes like Edward or Stickler syndrome (autosomal dominant with arthritis and ocular problems). * With Pierre Robin sequence, think about airway problems. Fetal Alcohol Syndrome (FAS) * Alcohol is the most common teratogen to which the fetus will be exposed. * The amount of alcohol needed to get teratogenic effects is unknown. * Fetal alcohol syndrome associated with pre- and post-natal growth deficiency, mental retardation, average IQ of 63 particularly in full syndrome, irritability, hyperactive as children, fine motor dysfunction. * Physical findings include microcephaly, short palpebral fissures, maxillary hypoplasia, short nose, smooth philtrum, thin upper lip, micrognathia. * FAS associated with cardiac anomalies, usually septal defects. May have ptosis, cleft lip, tetrology of Fallot. * Appear as failure to thrive because they have thin adipose tissue. * Symptoms depend on how much the mother drank during pregnancy. * FAS with 2 drinks per day results in a smaller birth size. * FAS with 4-6 drinks per day results in subtle physical findings. * FAS with 8-10 drinks per day results in severe fetal alcohol syndrome. * There is no treatment for FAS. Down Syndrome * Trisomy 21 is the most common form of congenital malformation, 1 in 660 births. * Signs include hypotonia, protruding tongue, short stature, awkward gait, hyperflexible joints, diastasis of the rectus muscle, mental retardation, foreshortened AP diameter of the head, upslanting palpebral fissures. * Down characteristics includes epicanthal folds, mongoloid slant to eyes, slightly protruding tongue, simian crease (10% of normal population has this), wide space between first and second toes (sandal toes), characteristic dermatoglyphic fingerprint pattern, clinodactyly (short curved inward 5th finger), low-set ears sometimes.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

* Eyes can show Brushfield spots in the periphery of the iris. Can have hypoplastic teeth. * Cardiac abnormalities include endocardial cushion defects, ASDs, VSDs. * Can have very dry skin and can have cutis marmorata (like mottled skin). * Pubic hair is fine, soft, sparse, and straight. * May have seizures, strabismus. Remember duodenal atresia. * Down children at higher risk for malignancies, including leukemia and thyroid disease. Edward Syndrome * Trisomy 18 have a prominent occiput (compared with flat occiput in Downs). * Will have weak or feeble activity, a weak cry, growth deficiency, mental retardation, low-set ear. * Hands will have overlapping fingers (4th over 5th, 3rd over 2nd) and hypoplastic nails. * Can have hammer toes and rocker bottom feet. * Cardiac defects include ASDs, VSDs, PDA. * Up to 10% survive to one year of age. Marfan Syndrome * Marfan characteristically is very tall patient with long fingers (arachnodactyly), long limbs, muscle hypotonia, kyphosis or scoliosis, lens dislocations or lens subluxations (may wear really thick eye glasses). * These patients are at higher risk for dissecting aortic aneurysms. Caused by a defect in fibrillin gene. * May have hemivertebra, scoliosis. Are of normal intelligence. Autosomal dominant. Turner Syndrome * Look for pitting lymphedema in a newborn. This will go away. * Turner patients all have short stature, so think about Turner with any short stature female for evaluation. * Signs include wide-spaced nipples (shield chest), multiple nevi, low posterior hairline (webbed neck, pterygium colli), cubitus valgus (cannot straighten arm), hypogonadism. * Risk for aortic coarctation, bicuspid aortic valve, horseshoe kidney, may have blue sclera. * Treatment is estrogen replacement when they get to the right age. Prune Belly Syndrome * Prune belly syndrome is congenital absence of the abdominal muscles. * Higher risk for renal abnormalities, volvulus, constipation, undescended testes, 95% are males. Ehler-Danlos Syndrome (EDS) * Ehler-Danlos syndrome is autosomal dominant, may have very stretchy skin. Autosomal recessive in type VI. * This is a collagen deficiency, hyperextensible joints, velvety skin, friable easily bruising skin, poor healing. * Avoid surgery on EDS patients as much as possible. Risk of uterine tears. Mitral valve prolapse occurs. Peutz-Jegher Syndrome * Hyperpigmented lesions seen in oral mucosa, goes away with time. Associated with multiple polyps. * Autosomal dominant, high rate of spontaneous mutation. * Lesions on lips and mucous membranes. Polyps found in the jejunum, nasopharynx, and bladder. * Polyps usually do not turn malignant. Patients can have finger clubbing. Klinefelter Syndrome * Patients have hypogonadism, slender, tall, eunuchoid habitus. * Patients have gynecomastia. Will have low IQ and behavior problems. Fragile X Syndrome * Fragile X is the most common cause of inherited mental retardation. * Signs are big ears, big head, big testicles (orchidomegaly), and mental retardation. Ataxia Telangiectasia Syndrome * Ataxia telangiectasia syndrome is autosomal recessive. Ataxia begins shortly after they can walk. * Telangiectases appear at about 3-6yo. Will be wheelchair bound by age 10. * Problem with upper respiratory problems and immune deficiencies. Higher risk for malignancy. * There is ataxia, choreoathetosis, drooling, mask-like facies. Prader-Willi Syndrome * Prader-Willi syndrome is 3 Hs and an O. Hypomentia, hypotonia, hypogonadism, obesity. These children have a problem with leptin and will always be hungry, parents may need to lock the cabinets and refrigerator. * Paternal deletion of chromosome 15, imprinting defect similar to Angelman syndrome. Waardenburg Syndrome * Waardenburg has lateral displacement of the inner canthus, severe bilateral deftness, partial albinism. * May describe partial albinism as a white forelock, white hair in the middle with the rest of the hair black. * This is autosomal dominant, don’t forget hearing loss.

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Study Notes – Pediatrics

James Lamberg

28Jul2010

Achondroplasia * Achondroplasia is autosomal dominant but the majority are fresh mutations. * Will have short stature, large head, may develop hydrocephalus because foramen magnum is narrow. * Will have normal intelligence. Prominent forehead, lumbar lordosis, short limbs in proportion. LEOPARD Syndrome * Lentigines (multiple warty nevi), ECG abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia (hypogonadism, cryptorchidism), Retarded growth, Deftness. * Also known as cardiocutaneous syndrome or Gorlin syndrome II. --------------------------------------------------------------------------------------------------------------------------------------------

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