Notes for Pediatrics – Mhmd A.

Safi
1) Dysmorphic Features

 Hypotelorism, Hypertelorism, Telecanthus (short distance of palpebral

fissure – inter-pupillary distance is the same not as hypertelorism)

 Waardenburg syndrome: heterochromasia iridis, partial albinism, wide

forelook, hypertelorism, telecanthus, synophry (unibrow) with
sensorineural hearing loss (Autosomal dominant with variable penetrance)

 Holoprosencephaly (failure of differentiation of cerebral cortex in to right

and left hemispheres), hypotelorism, central cleft lip  Patau Syndrome

 Arachnodactyly, Brachydactyly, Syndactyly, Clinodactyly, Camptodactyly

(flexion of PIP joint of small finger), Polydactyly ( preaxial or postaxial)

 Sagittal Craniosynostosis  Scaphocephaly or Dolichocephaly (long

narrow skull)

Coronal Craniosynostosis Brachycephaly (may lead to proptosis)

 Preauricular skin tags  Renal USS for renal abnormalities

Tuft of hair on lower back  Spina Bifida

 Hypotelorism  Innercanthal distance < Palpebral fissure

DDx: Patau syndrome, Fragile X syndrome, Fetal alcohol syndrome

 Down slanting eyes  Marfan syndrome, Potter sequence, Zelwegger

Up slanting eyes  Down syndrome, trisomy 9

 Low set ears ( nothing above inner canthal line)  Down, Turner, Noonan,
Edward syndromes, Potter sequence
 2) Immunizations

 OPV causes shedding so should not be given for example to a brother of an

immunocompromised child, not given to preterms in NICU

 If Preterm do not give Hepatitis B vaccine on birth, wait till 1 month age or
> 2kg other vaccines are given according to his chronological age

 Polysaccaride Antigen Vaccines cannot be given till >2 years of age

 Prevnar: 13 subtypes, Conjugated pneumococcal vaccine, 3 doses (2,4,12

months) (Bacterial capsular polysaccharide joined to a protein/peptide to
enhance T-cell immune response and present it to MHC)

 Antigen: Protein, polysaccharide (weakly antigenic).

Killed vaccines: IPV, Infleunza, Old pertussis (need booster)

Live Attentuated vaccines: BCG, MMR, OPV, VZV, Intranasal Influenza vaccine
(Lifelong immunity except OPV)

Subunit: Diphtheria, Tetanus (Toxoids)

Polysaccaride: Pneumococcus, Meningococcus C, H.influenzae type b.

Recombinant DNA: Hepatitis B vaccine

 IPV, MMR, Td (at 15 years) are given in deltoid mucle

 MMR vaccine is given to HIV patients even though it‟s a live attenuated
vaccine (High risk to get infection of measles to HIV patients)

 Live attenuated vaccines must be given on same day, or 28 days apart (killed
vaccines doesn‟t matter)
 DTaP  minimum duration between doses is 6 weeks, maximum duration
is not important

 If an infant is given Blood/IVIG then live attenuated vaccines must not be

given till 9 months, if an infant was given live attenuated vaccines he can
take Blood/IVIG after 1 month ( MMR 3 months , 2 weeks)

 MMR and BCG can be given to household contacts of an

immunocompromised child because risk of transmission is low

 Allergenic substances in vaccines

Neomycin  IPV, MMR, Varicella

Streptomycin  IPV

Gelatin  MMR, Varicella

 Tetanus vaccine can cause Guillian-Barre syndrome within 6 weeks of

tetanus toxoid containing vaccine.

 Contraindications for pertussis vaccine include anaphylaxis to vaccine

ingredients, progressive neurologic disorder (uncontrolled epilepsy,
infantile spasms), and encephalopathy within a week of previous vaccine
dose.

 Contraindications for rotavirus vaccine include anaphylaxis to vaccine

ingredients, history of intussusception, Meckel‟s diverticulum, SCID
disease.

3) Nutrition

 Infants 0-6 months need 115 kcal/kg/day and 2.2 g/kg/day of protein
 Human milk difference than formula: Lactoferrin (increases bioavailability
of iron, inhibits E.coli), Secretory IgA (GI protection), Lysozyme (only in
human milk, has bactericidal properties), higher whey protein ( which
increases gastric emptying, and easy to digest), Bifidus factor (which
promotes growth of Lactobacillus bifidus, results in low ph)

 Failure to thrive: Weight less than 3rd percentile, or Z score of -2 or more on

weight for height or weight for age charts
Types:

Type 1 Malnutrition or psychosocial factors (Weight is decreased only)

Type 2  Endocrinopathies, and chronic malnutrition (Weight and height)

Type 3 Chromosomal, metabolic disease, IUGR (Weight, Height, HC)

 Nitrogen balance = Nitrogen In – (Nitrogen out + 4)

 Premature infants don‟t have well developed renal sodium conservation

mechanism so they have higher sodium requirements, higher calcium and
phosphorus requirements (bone mineralization), and they have increased risk
of zinc and copper deficiency due to limited stores and rapid growth

 Vitamins A, D, E requirements are higher for preterms, requirements for

Vitamin K, and All B vitamins are the same for term, or preterm infants.

 Renal solute: Human milk 79 mOSM/L, Cow‟s milk 228 mOSM/L

Osmolality: Human milk 300 mOSM/kg

 Soy-based formula: is used for lactose intolerant infants, not indicated for
premature <1.8 kg (increases risk of osteoporosis and rickets), should not
be used for <6 months of age because it contains high content of aluminum
and contains phytoestrogens, contains phytic acid which may inhibit iron
absorption. Carbohydrate: sucrose, corn syrup, fat: vegetable oils, protein
soy. It is used for galactosemia, lactose intolerance, igE mediated allergy to
cow‟s milk. ( Not used for prevention of allergy 30% cross sensitivity)
 Hyrolysate formula: protein casein or whey hydrolysate, fat MCT,
carbohydrate sucrose, used for intolerance to cow milk and soy protein
formulas, fat malabsorpion, short gut syndrome, severe chronic diarrhea,
and liver disorders such as cholestasis and biliary atresia. (Progestamil,
Neutramigen). (MCT does not need bile to be absorbed)

 Elemental formulas: protein free amino acid, used in severe food allergy,
malabsorption, transition from TPN. (Neocate)

 Premature infant formula: used for preterms <2-3 kg, <36 wks of gestation,
it contains more protein, more MCT oils, less lactose (80 kcal/100 ml)

 DHA/AA enriched formulas: difference in Fats (vegetable oil + long chain

PUFA) DHA is omega 3 fatty acid, AA is omega 6 fatty acid, higher IQ
and better vision. (LCPUFA are important in retinal development)

 Progestamil contains 55% MCT, it is a hydrolyzed formula used for

protein or fat malabsorption, short bowel syndrome, and cholestasis.

 Nutramigen contains long chain fatty acids, indicated for patients with
Galactosemia

 Portagen contains high amount of MCT (86%) used for Chylothorax

 Neocate contains free amino acids, fat is long chain fatty acids (only 5%
MCT) used for infants with malabsorption and severe food allergies

 No Cow‟s milk is given until after 1 year

 Honey should not be given until 1 year of age because of risk of infantile
botulism
 Introduce complementary food after 6 months, start with only one type food
with adding another type after 1 week ( do not give increased amounts of
fruit juice it leads to diarrhea – high fructose and sorbitol)

 Non-fat and low-fat milk products are not recommended in 1st 2 years of life

 Zinc is essential for growth and sexual maturation

 Breastfeeding reduces risk of type 2 DM, Breast and Ovarian Ca for the
mother, and reduces risk of DM type 1, hypertension, allergies and obesity
for the infant.

 Marasmus has a wasted appearance, without edema.

Kwashiorkor there is generalized edema as well as severe wasting, in
addition there may be: hyperkeratosis and desquamation, distended abdomen
and enlarged liver, angular stomatitis, diarrhea, hypothermia, bradycardia,
and hypotension. It‟s a manifestation of primary protein deficiency in a diet
that is high in starch.

 Vitamin A deficiency leads to hyperkeratosis and night blindess

(nyctalopia). (most common cause of night blindness is retinitis
pigmentosa), also increased susceptibility to infection especially measles.

 Viramin E deficiency results in hemolytic anemia, ataxia, progressive

neuropathy, and retinopathy.

 Thiamine B1 deficiency results in beriberi which manifests with

cardiomyopathy, also hoarsness, aphonia, encephalopathy, apathy,
drowsiness, and seizures.

 Riboflavin B2 deficiency results in angular stomatitis and fissuring of lips.

4) Cardiology

 ASD  RSR1 in V1 lead (secundum ASD), Superior axis-negative

deflection in lead AVF (AVSD), it causes wide fixed split of S2, surgery
for AVSD at 3 years of age, catheter device for secundum ASD at 3-5 years
of age

 VSD Pansystolic murmur at LLSE, apical mid-diastolic murmur, loud P2,

and inverted T wave in V1 lead suggests no pulmonary hypertension,
upright T wave in V1 suggests pulmonary hypertension, treat with
surgery at 3-6 months of age

 PDA definition: failed to close by 1 month after the expected date of

delivery due to a defect in the constrictor mechanism of the duct. Causing
continuous machinery murmur, wide pulse pressure (collapsing of bounding
pulse), treat with coil or device closure at cardiac catheterization at 1 year of
age. Murmur continues into diastole because the pressure in the pulmonary
artery is lower than that in the aorta throughout the cardiac cycle.

 Hyperoxia test (Nitrogen washout test): infant is placed in 100% oxygen for
10 minutes, if PaO2 from right radial blood gas analysis remains low <50
mmHg a diagnosis of cyanotic congenital heart disease can be made if lung
disease and persistent pulmonary hypertension of the newborn has been
excluded. Preductal and postductal O2 sat difference should be <5% and
both >90%.

 Tetralogy of Fallot  boot shaped heart, pulmonary artery bay (concavity of

left heart border), oligemic lung field. On ECG there will be an upright T
wave in V1 with pure R wave (no S wave) as a result from Right ventricular
hypertrophy, treat with surgery at 6 months of age. Neonates may need a
shunt between subclavian artery and pulmonary artery (Blalock-Taussig
shunt).
 Transposition of great arteries  Egg on side CXR appearance, narrow
pedicle, balloon atrial septostomy may be lifesaving.

 Glenn (hemi-fontan) and Fontan procedures connecting SVC and IVC

respectively with the pulmonary artery.

 Right Ventricular hypertrophy  Upright T wave in V1

 Left Ventricular hypertrophy  Deep S wave in V2 and tall R wave in V6

(>45 mm total)

 Downgoing T wave in V6 suggests left ventricular strain and severe aortic

stenosis

 Balloon Valvotomy is used for children with exercise intolerance or who

have a high resting pressure (>64mmHg), for infants--aortic valve
replacement

 Adult-type Coarctation of Aorta: Systemic hypertension in right arm with

radio femoral delay, on CXR: Rib notching due to development of
collaterals, „3‟ sign with visible notch in the descending aorta at site of
coarctation, on ECG: Left ventricular hypertrophy

 Sinus arrhythmia is normal in children (up to 30 beats/min) it increases with

inspiration and decreases with expiration

 Jones criteria for diagnosis of rheumatic fever:

Required to make diagnosis  two major, one major and two minor, criteria
plus evidence of preceding group A streptococcal infection (raised or raising
ASO titre, or positive rapid strep antigen test or positive group A strep on throat
culture).

Major Manifestations: Carditis, Migratory Polyarthritis, Subcutaneous nodules,

Erythema marginatum, Sydenham chorea
Minor Manifestations: Fever, Polyarthralgia, Raised acute phase reactants,
Prolonged P-R interval on ECG

 Management of rheumatic fever:

Aspirin as anti-inflammatory in a high dose, if fever and inflammation do not

resolve rapidly, corticosteroids may be required

Treat symptomatic heart failure with diuretics and ACE inhibitors, pericardial
effusions may require pericardiocentesis

Monthly injections of Benzathine Penicillin is the most effective prophylaxis,

prophylaxis is recommended for 10 years or till age 21 years (Oral
erythromycin can be substituted in those sensitive to penicillin)

 Kawasaki Disease: Vasculitis disease affects children 6 months – 5 years of

age, it may lead to pericardial effusion, myocardial disease, endocardial
disease, or coronary disease with aneurysm formation, which can be
giant >8mm in diameter.

Criteria: Fever of 5 days or more pluse 4 of the following: nonpurulent

conjunctivitis, mucosal involvement (redcracked lips, strawberry tongue,
erythema), polymorphous rash (no vesicles), cervical lymphadenopathy
(often unilateral), edema or erythema of hands and feet, followed by peeling
of fingers and toes in the second week.

(F-CREAM – Fever Conjunctivitis, Rash, Edema, Adenopathy, Mucous)

5) Hematology

 Dyskeratosis Congenita: inherited aplastic anemia characterized by bone

marrow failure, skin hyperpigmentation, nails dystrophy, pulmonary
fibrosis, and cancer predisposition.

 Cisplatin may cause erythropoiesis suppression, deafness, and renal failure.

 Amegakaryocytic thrombocytepenia
 Hereditary spherocytosis: Autosomal dominant inheritance

 G6PD deficiency: X-linked causing symptoms in males, or females

homozygotes or heterozygotes by Lyon hypothesis

 Wiskott-Aldrich syndrome is an X-linked disorder characterized by

eczema, thrombocytopenia and hypogammaglobulinemia

 Transient erythroblastopenia of childhood causes normochromic normocytic

anemia (pure red cell aplasia)

 Diamond Blackfan anemia: only 20% of cases have family history, usually
presents at 2-3 months of age, associated with other congenital anomalies
 short stature, triphalangeal thumbs, webbed neck, and cleft lip. Treat
with steroids or transfusion. (Macrocytic pure red cell aplasia)

 Fanconi anemia: most common inherited aplastic anemia type, autosomal

recessive of FANCA genes, associated with microphthalmia, renal
malformations, abnormal radii, hypoplastic thumbs, and café au lait spots.
Increased chromosomal breakage of peripheral lymphocytes for
diagnosis, and it affects all cell lines (Also macrocytic anemia).

 High risk features of leukemia: Age <1 or >10, high tumor load >50,000
WBCs, MLL rearrangement t(4:11), hypodiploidy (<44 chromosomes),
persistence of leukemic blasts in the bone marrow after initial chemotherapy,
detectable MRD after induction therapy.

6) Urinalysis

 Protein : >40 mg/m2/hour  nephrotic range, 4-40 mg/m2/hour pathologic

<4 mg/m2/hour is considered normal

 Ketones: reflects starvation state (Acetone, acetoacetate, B-

hydroxybutyrate), B-hydroxybutyrate does not appear in urine
 Proteinuria: Severe exercise, orthostatic proteinuria, and fever may cause
benign proteinuria. (Drugs like NSAIDS will cause proteinuria also)

 Hematuria: >5 RBC per hpf (x40 magnification), WBCs normal 2-5 hpf

 Leukocyte esterase is done on dipstick

 Casts: one RBC cast is enough to diagnose Glomerulonephritis

 Crystals: Cystine crystals are colorless, hexagonal shape, in acidic urine

(diagnostic of cystinuria), triple phosphate crystals associated with alkaline
urine, colorless, coffin lid appearance, Calcium oxalate crystals are envelope
shaped crystals.

 Causes of red urine: UTI, trauma, severe exercise, renal stones, metabolites
such as porphyria. Drugs such as rifampin, ibuprofen, doxorubicin, sickle
cell disease, coagulopathy(severe hemophilia), glomerulonephritis, drug
Induced hemorrhagic cystitis such as with cyclophosphamide, hypercalciuria
(>0.2 urine calcium/creatinine ratio)
Dipstick tests for peroxidase activity and thus will be positive with
hemoglobin, myoglobin, and blood.

 Urine dipstick may be falsely negative for heme in the urine with ascorbic
acid (vitamin C) supplements.

 Sediment examination for crystals, cells, casts under microscope.

7) Neuromuscular disorders

 Spinal Muscular Atrophy: Autosomal recessive due to mutations in the

survival motor neurone (SMN1) gene, it‟s the second most common cause of
neuromuscular disease after Duchenne. Typical signs of SMA type 1
(Werdnig Hoffmann disease) include alert expression, tongue
 fasciculation, symmetrical flaccid paralysis, absent DTRs, intercostal
recession, weakness of bulbar muscles. Death is from respiratory failure
within about 12 months.
Type 2 is milder but never walk independently, type 3 (Kugelberg-
Welander) also mild and may learn to walk, most severe is type 0.

 Charcot-Marie-Tooth disease: Caused by mutations in myelin genes,

CMT1A accounts for 70-80% and is inherited in an autosomal dominant
manner in two thirds, one third developing the mutation de novo. Presents
with bilateral foot drop, loss of ankle reflexes may progress to loss of knee
reflexes, pes cavus may be present, lower limbs affected more than the
upper limb. Affected nerves may be hypertrophic due to demyelination
followed by attempts of remyelination. Nerve conduction studies show a
motor and sensory neuropathy. Nerve biopsy shows onion bulb formation
due to demyelination and remyelination. Can be similar to Friedrich Ataxia.

 Guillian-Barre syndrome: Ascending progressive symmetrical weakness

over a few days to 2 weeks. There is loss of tendon reflexes and autonomic
involvement. Involvement of bulbar muscles leads to difficulty chewing and
swallowing and the risk of aspiration. Dysautonomia occurs in 70%. It
occurs post infectious of URTI or Campylobacter gastroenteritis after 2-
3 weeks.
CSF WBC is not raised, but CSF protein is markedly raised but this may
not be seen until in the second week of illness, nerve conduction studies may
show reduced velocities, management is supportive. Corticosteroids have
no beneficial effect and may delay recovery. IVIG or plasma exchange
may be beneficial.

 Bell palsy: isolated LMN paresis of the Facial nerve, it may be post-
infectious with an association with herpes simplex virus or Lyme disease,
corticosteroids speed recovery if given in first week, main complication is
conjunctival infection, hypertension should be excluded, as there is an
association between Bell palsy and coarctation of the aorta and renal failure.
 Juvenile Myasthenia: Diurnal worsening of fatigability, ocular muscles
involvement which causes ptosis, and ophthalmoplegia. Diagnosis is made
by observing improvement following the administration of intravenous
edrophonium or oral pyridostigmine, or neostigmine. Identifying
acetylcholine receptor antibodies or rarely anti-MUSK. Oral pyridostigmine
or neostigmine are the treatment. With immunosuppressive therapy of
Prednisone, azathioprine, mycophenolate, and rituximab are of value.
Thymectomy may be indicated if a thymoma is present. Plasma exchange is
used for crisis.

 Duchenne Muscular Dystrophy: X-linked recessive deletion of dystrophin

gene, which normally connects the cytoskeleton of a muscle fibre to the
surrounding ECM through the cell membrane, when its deficient, there is an
influx of Ca ions, a breakdown of calcium calmodulin complex, and an
excess of free radicals leading to myofibre necrosis. Average age of
diagnosis is 5 years (In Becker‟s muscular dystrophy its 11 years). There is
pseudohypertrophy of the calves because of replacement of muscle fibres by
fat and fibrous tissue. Complications include scoliosis and cardiomyopathy.
Death is around 20-30 years of age from respiratory or heart failure. Exon
skipping drugs such as Ataluren.

 Congenital muscular dystrophy: Autosomal recessive inheritance,

present with weakness at birth, hypotonia or contractures. Muscle biopsy
shows dystrophic features with a reduction in one of the ECM proteins such
as laminin (most common) it may result in learning difficulties.

 Carnitine palmitoyltransferase 2 deficiency is the most frequent disorder

of lipid metabolism causing metabolic myopathy.

 There is a greater risk of cancer in patients with Dermatomyositis.

 Myotonia is delayed relaxation after sustained muscle contraction.

 Myotonic Dystrophy type 1: Autosomal dominant illness caused by a
nucleotide triplet repeat expansion, CTG in the DMPK gene on
chromosome 19. It can manifest as slow release of handshake or difficulty
releasing the tightly clasped fist. Potential complications include cardiac
arrhythmia, adults develop cataracts, and males develop baldness, testicular
atrophy, and type 2 diabetes.

8) Endocrinology

 Etiology of type 1 DM: genetic and environmental triggers, such as

enteroviral infections and cow‟s milk proteins, which results in autoimmune
process which damages B- pancreatic cells, markers of B-cell destruction are
antibodies to GAD, the islet cells, and insulin.

 Dx: Random blood sugar >200 mg/dL. When there is any doubt, a fasting
blood glucose >126 mg/dL or a raised HbA1c can be helpful.

 Rotation of the injection sites of insulin is important to prevent

lipohypertrophy or more rarely lipoatrophy.

 Aim for blood glucose levels between 4 and 7 mmol/L before meals and
give extra rapid acting insulin at mealtimes, HbA1c < 6.5%

 Diabetic Ketoacidosis page 460: If in shock, initial resuscitation is with

normal saline (10 ml/kg) after 12 hours if plasma sodium is stable switch to
half normal saline. Insulin infusion (0.1 U/kg/h) is started after intravenous
fluids running for 1 hour, change to a solution containing 5% glucose when
blood glucose has fallen to 14 mmol/L to avoid hypoglycemia.
Do not stop the intravenous insulin infusion until 1 hour after subcutaneous
insulin has been given.
 Beckwith-Wiedmann syndrome: up to 3rd year of life, nonketotic
hypoglycemia, macroglossia, macrosomia, hemihyperplasia, umbilical
hernia, omphalocele, ear pits, and high risk of wilms tumor occurrence.

 Maldescent of the thyroid and athyrosis is the most common cause of

sporadic congenital hypothyroidism, whereas iodine deficiency is the most
common cause of congenital hypothyroidism worldwide.

 In congenital hypothyroidism treatment should be started before 2-3 weeks

of age to reduce the risk of impaired neurodevelopment

 Autoimmune thyroiditis: there is an increased risk in children with Down or

Turner syndromes

 In pseudohypoparathyroidism  there is end organ resistance to the action

of PTH; PTH levels are normal or high and calcium and phosphate levels are
abnormal. Associated abnormalities are short stature, obesity, subcutaneous
nodules, short fourth metacarpals and learning difficulties.

 Pseudopseudohypoparathyroidism same physical characteristics but levels of

calcium, phosphate, and PTH all normal.

 Hyperparathyroidism  William syndrome, and MEN 1 and 2A.

 Waterhouse-Friedrichsen syndrome  Adrenal insufficiency post

meningococcal infection

 Normal response of ACTH (Cosyntropin) test excludes adrenal insufficiency

 Gonadotrophin insufficiency as a cause of disorder of sex developments is

seen in several syndromes such as Prader-Willi syndrome and congenital
pituitary dysfunction also Kallmann syndrome. Hypergonadotrophic
hypogonadism such as Klinefilter syndrome.
 Indications for Growth hormone in short stature: Turner syndrome, Prader-
Willi syndrome, Chronic renal failure, GH deficiency, and SGA.

9) Inborn Errors of Metabolism

 Glycogen storage disorders types 1,2,3,5 are all AR

 Lysosomal storage disorders: Mucopolysaccharidoses are all AR, except

MPS type 2 (Hunter disease) is X-linked, they cause corneal clouding,
thickened skin, coarse facies, and affect heart, brain, skeletal muscles.

 Glycogen storage disease  Type 1A: Hypoglycemia, hepatomegaly,

hyperuricemia, hyperlipidemia, and lactic acidosis with a chubby or doll like
face. Type 1B: Same with neutropenia, and increased risk for Crohn’s
disease IBD. Type 3 has normal lactate levels.

 Mitochondrial disorders such as MERRF, MELAS, Alpers

 Lipid storage disorders such as:

Fabry disease  Alpha-galactosidaase A deficiency  The only X-linked
 Lysosomal disorders:
Gaucher disease  B-glucosidase deficiency  Most common
Nieman-pick disease  Sphingomyelinase deficiency  cherry red spot
 macula, hepatosplenomegaly, areflexia, neurodegenerative
Tay-Sachs disease  Hexosaminidase A deficiency  cherry red spot
macula, no hepatosplenomegaly, hyperreflexia
Wolman disease  Lysosomal acid lipase deficiency  X-ray shows
adrenal calcification.
Mucopolysaccharidosis

 Peroxisomal Disorders affects synthesis of plasmalogens (a major myelin

constituent), cholesterol, and bile acids for example Zelwegger syndrome
characterized by long forhead, hypotonia, cataract and hepatomegaly.
(Cerebrohepatorenal syndrome), has features of Down syndrome,
accumulation of very long chain fatty acids.

 Gaucher disease: Must be considered in any child who presents with

unexplained hepatosplenomegaly, thrombocytopenia, and lytic lesions of
bone. Erlenmeyer flask deformity of femur (showing constriction of the
diaphysis and flaring of the metaphysis).

 Nieman-pick disease A/B: Can cause recurrent chest infections, cherry red
spot macula, hepatosplenomegaly, +- neurologic manifestations, lipid laden-
macrophages gives foamy appearance in the bone marrow.

 Mucopolysaccharidosis: All of them autosomal recessive except Hunter

disease (Hunter has no corneal clouding), coarse facial features, skeletal
abnormalities (paddle ribs, bullet sign: proximal tapering of
metacarpals).

 PKU: mental retardation, gradual (chronic), inevitable brain damage, needs

formula free of phenylalanine, don‟t stop breastfeeding.

 Tyrosinemia  Type 1: hepatorenal. Type 2: mental retardation, eye

manifestations & hyperkeratotic lesions on the palms and soles. The
hallmark is organic acidemia and metabolic acidosis.
 Urea cycle disorders: hallmark is elevated ammonia level >200 &
encephalopathy.

 Homocystinuria: Skeletal abnormalities as in Marfan‟s syndrome

(downward lens dislocation), high risk of thrombosis, and mental
retardation.

10) Renal Disorders

 Antenatal diagnosis of urinary tract anomaly: Start prophylactic antibiotics,
if unilateral hydronephrosis in a male or any anomaly in female then
Ultrasound at 4-6 weeks if normal stop antibiotics and repeat ultrasound
at 2-3 months
If bilateral hydronephrosis and dilated lower urinary tract in a male then
Ultrasound within 48 hours of birth to exclude posterior urethral valves, if
abnormal then MCUG and surgery if required.

 5 Grades of Vesicoureteral reflux

 Only atypical UTI needs investigations, atypical means: seriously ill or

septicemic, abdominal or bladder mass, poor urine flow, creatinine raised,
failure to respond to antibiotics within 48 hours, atypical (non E.coli)
organism.
 First proven UTI  Antibiotic therapy  U/S of kidneys and urinary tract
 <1 year then MCUG and DMSA  1-3 years then only DMSA  if >3
years then no further investigations if U/S is normal

 Trimethoprim 2mg/kg at night is used most often as antibiotic prophylaxis

for children who have congenital abnormality and those with severe reflux,
also with high fluid intake, regular voiding, double voiding, treatment of
constipation, good perineal hygiene, lactobaciullus acidophilus (probiotic)

 Black urine  a feature of alkaptonuria, urine initially will be normal in

color, when it stands for some time it becomes black due to oxidation of
homogentisic acid.

 Nephrocalcinosis is seen with hypercalciuria, hyperoxaluria, and distal renal

tubular acidosis (type 1). Also may be seen with furosemide therapy.

 Oliguria = <0.5 ml/kg/hour

 Calcium carbonate is a phosphate binder used for prevention of renal

osteodystrophy.

 Stages of chronic kidney disease from stage 1 (>90 ml/min per 1.73 m2) to
stage 5 (<15 ml/min per 1.73 m2).

 A minimum weight of 10kg needs to be reached before renal transplantation

to avoid renal vein thrombosis.

 Proteinuria on dipstick: trace  10-30 mg/d, +1 30-100 mg/d, +2 100-300

mg/d, +3 300-1000 mg/d, +4 >1000 mg/d

 Nephrotic range proteinuria: >40 mg/m2/hour

 Alport disease  Col 5 gene, Col4, and Col3 genes (Lenticonus is

pathognomic), 80% of cases inherit it as X-linked recessive
  Thin basement membrane disease  carrier of one gene of autosomal
recessive alport syndrome

 Congenital nephrotic syndrome  from birth to 3 months, associated with

genetic defect (podocin) or syphilis & toxoplasmosis infections, mercury
exposure

 Finnish type of congenital nephrotic syndrome  premature, enlarged

placenta (> 25% of body‟s weight) normal ratio is 1/6 of weight
separated cranial sutures, wet lung TTN
NPHS1 gene  nephrin protein which synthesizes podocytes, it may lead to
hypothyroidism

 Syndromes Associated with Wilms Tumor:

1) WAGR syndrome
2) Denys drash syndrome (early onset nephropathy, gonadal dysgenesis, and
wilms tumor).
3) Beckwith Wiedmann syndrome (Hyperinsulinism, hemihypertrophy,
macroglossia, umbilical hernia).

 Any febrile UTI before 24 months of age needs renal ultrasound scan

 UTI in children age <2 months needs MCUG

11) Malignancy
 Example of inherited cancer is bilateral retinoblastoma, which is associated
with a mutation of RB gene located on chromosome 13. 20% of unilateral
cases are inherited. (Autosomal dominant with incomplete penetrance).
Significant risk of second malignancy (especially sarcoma) among survivors
of hereditary retinoblastoma.

 Infection related cancers such as:

EBV causing Burkitt lymphoma, Hodgkinn lumphoma, and nasopharyngeal
 carcinoma.
HIV and HH8 causing Kaposi sarcoma
Hepatitis B causing hepatocellular carcinoma

 Translocation of chromosomes (11;22) in Ewing sarcoma

 Source of stem cells may be allogeneic (from a compatible donor) or

autologous (from patient himself , harvested beforehand)

 Rituximab is used for lymphoma, and anti-GD2 for high risk

neuroblastoma

 Philadelphia chromosome t(9:22) BCR-ABL fusion gene in CML/ALL

lead to tyrosine kinase inhibitors such as Imatinib

 During chemotherapy and from 6 months – 1 year subsequently, the use of

live attenuated vaccines is contraindicated.

 Immunosuppression in cancer patients is usually due to chemotherapy 

Pneumocystic jiroveci in leukemia, Measles and Varicella zoster
infections may be life-threatening

 Drug specific side effects:

Cardiotoxicity with doxorubicin
Renal failure and deafness with cisplatin
Hemorrhagic cystitis with cyclophosphamide
Neuropathy with vincristine

 Hodgkin Lymphoma  ABVD

Non-Hodgkin Lymphoma  CHOP +- Rituximab

 Leukemia  Peaks at 2-5 years of age, 10% of patients with acute leukemia
have DIC at diagnosis.
Chest x-ray is required to identify a mediastinal mass, characteristic of T-
 cell disease.
High risk features: Age <1 or >10, tumor load >50,000 WBCs, t(4:11) or
hypodiploidy (<44 chromosomes), persistence of leukemic blasts in the bone
marrow, and detectable MRD after induction therapy.
Remission induction: eradication of leukemic blasts and restoration of
normal marrow function.
Intensification to consolidate remission
Continuing therapy: up to 3 years from diagnosis, with trimethoprim-
sulphamethoxazole prophylaxis to prevent Pneumocystis pneumonia

 T-cell malignancies may present as ALL, or non-Hodgkin lymphoma,

mediastinal mass is characteristic
B-cell malignancies present more commonly as non-Hodgkin lymphoma

 Burkitt lymphoma
Endemic variant: is found in malaria endemic regions, because malaria
reduce resistance to EBV, characteristically involves the jaw or other facial
bone.
Sporadic in western countries with EBV infection
Immunodeficiency associated is usually associated with HIV or post-
transplant patients.

 In neuroblastoma, amplification of the MYC-N oncogene predicts

aggressive behavior of the tumour. It may resolve spontaneously, metastatic
disease is treated with chemotherapy, surgery, and radiotherapy. Retinoic
acid now establishing a role

 Nephroblastoma: presents usually in first 5 years with abdominal mass,

hematuria. Staging is to assess for distant metastasis (usually in the lung)

 Rhabdomyosarcoma is the most common form of soft tissue sarcoma in

childhood
Soft tissue sarcoma most common site of disease is head and neck, causing
proptosis, nasal obstruction, or blood stained nasal discharge
  Langerhans cell histiocytosis: presents with bone lesions (lytic lesions with a
well-defined border often involving the skull), diabetes insipidus (may be
associated with proptosis and hypothalamic infiltration), and systemic LCH
with seborrhoeic rash.

 MIBG scan used to localize tumors of neural crest origin such as

neuroblastoma

12) Allergy
 Eczema  Fliggarin gene mutations cause impairment of skin barrier
function.
 Skin-prick test  Weals of 4mm or greater are considered positive
 Dennie-Morgan folds and blue grey discoloration below the lower eyelids
are seen in allergic conjunctivitis
 Allergic March  starts with eczema and food allergy in infancy, later
allergic rhinitis, conjunctivitis, and asthma follow.
 Sublingual immunotherapy is used for allergic rhinitis, conjunctivitis, insect
stings, and asthma but not for food allergy, it‟s safer than subcutaneous
injections.

13) Infectious
 Impetigo  More common in children with preexisting skin disease such
as eczema, caused by S.aures or Streptococcus pyogenes, characteristic
honey or gold colored exudate, treat with local mupirocin or oral
flucloxacillin or amoxi-clav.

 Periorbital cellulitis  almost always unilateral, may spread from a

paranasal sinus infection or dental abscess, treat with intravenous
ceftriaxone to prevent posterior spread causing orbital cellulitis. In Orbital
cellulitis, there is proptosis, painful or limited ocular movement with
reduced visual acuity& diplopia.
 Staphylococcal scalded skin syndrome  exfoliative staphylococcal toxin
causing separation of the epidermis through granular cell layers. Nikolsky
sign positive, treat with intravenous flucloxacillin.

 Scarlet fever  caused by streptococcal infection releasing superantigen

toxin, causes sand-paper like rash, treat with amoxicillin

 Exanthema subitum or roseola infantum (Sixth disease) is caused by HHV 6

& 7, rash appears as fever wanes, supportive therapy

 Infectious mononeucleosis is caused by EBV (HHV 4), Heterophile

antibody positive in monospot test, amoxicillin is avoided for the
pharyngitis because it may cause florid maculopapular rash, syndrome of
fever, malaise, pharyngitis, and generalized lymphadenopathy (syndrome is
seen with CMV also but heterophile antibody test is negative).

 Human parvovirus B19 causes erythema infectiousum (or fifth disease)

slapped cheek syndrome, can cause aplastic crisis in patients with hemolytic
anemia and in immunocompromised children. Fetal disease by vertical
transmission from mother can cause fetal hydrops and death.

 Measles: clinical manifestations of fever, rash (spreads downwards or

cephalocaudally, that darkens to reddish-brown,may desquamate in second
week), koplik spots (white spots on buccal mucosa), nonpurulent
conjunctivitis, coryza, and cough. Treatment is supportive, add ribavirin in
immunocompromised patients. Vitamin A may have a beneficial role in
treatment by modulating the immune response.

 Kawasaki disease: affects children 6 months-5 years of age, young children

usually have incomplete Kawasaki criteria, they have high fever that is
difficult to control in addition to inflammation of their BCG vaccination
scar. Increased platelets on the second week, echocardiography is done
promptly to look for coronary artery aneurysms. Criteria F-CREAM,
 extremities redness and edematous followed by peeling of fingers and toes,
treat with IVIG and high dose Aspirin followed by antiplatelet low dose
aspirin.

 Lyme disease: Treat with doxycycline (for >8 years old) and amoxicillin for
younger children.

 Toxic shock syndrome caused by S.aureus or Streptococcus pyogenes.

Treat with Ceftriaxone & Clindamycin + IVIG to neutralize circulating
toxin. About 1 to 2 weeks after onset of illness there is desquamation of the
palms,soles, fingers and toes.

 Acyclovir is DNA polymerase inhibitor used to treat HSV infections.

 HSV may cause corneal dendritic ulceration which may result in corneal
scarring and vision loss.

 Complications of VZV include secondary bacterial infection (S.aureus &

Strep. pyogenes) causing toxic shock syndrome or necrotizing fasciitis,
encephalitis, postinfectious cerebellitis causing ataxia and cerebellar signs,
and Purpura fulminans (antiviral antibodies cross-react and inactivate
protein C or protein S increasing risk of thrombosis).

 Roseola infantum or exanthema subitum (sixth disease), Erythema

infectiousum (Fifth disease), Duke‟s disease (Fourth), Rubella (Third),
Scarlet Fever (Second), Measles (First).

 Enteroviruses include coxsackie viruses, echoviruses, and polioviruses,

causes many diseases such as hand-foot-mouth disease (characterized by
painful vesicular lesions), herpangina (painful vesicular lesions and
ulceration on soft palate), meningitis, encephalitis, pleurodynia (bornholm
disease) myocarditis, pericarditis, and enteroviral neonatal sepsis syndrome.

 Mumps  Fever, malaise, and parotitis. Pancreatitis and orchitis may occur.
 Rubella  Low grade fever, maculopapular rash appearing initially on the
face and then spreading centrifugally, lymphadenopathy particularly
suboccipital and postauricular nodes is prominent.

 Fever of unknown origin (FUO) to children with fever >38.3°C (101°F) of

at least eight days' duration, in whom no diagnosis is apparent after initial
outpatient or hospital evaluation that includes a careful history and physical
examination and initial laboratory assessment.

 TB  Sputum samples are generally unobtainable from children under

about 8 years of age, unless specialist induction techniques are used.
Children usually swallow sputum, so gastric washings on three consecutive
mornings can be used to identify M. tuberculosis originating from the lung,
using special staining techniques for acid–fast bacilli (Ziehl–Neelsen stains
or auramine stains) and mycobacterial cultures. To obtain these, a
nasogastric tube is passed and secretions are washed out of the stomach with
saline (before food intake). Urine, lymph node tissue, CSF, and radiological
examinations should also be performed as appropriate. Treat with quadruple
therapy (Isoniazid, Rifampicin, Pyrazinamide, Ethambutol) for 2 months
then with Isoniazid and Rifampicin for a total of 6 months. TB meningitis is
treated initially with dexamethasone to decrease the risk of long term
sequelae. Latent TB is treated with isoniazid alone for 6 months or isoniazid
plus rifampicin for 3 months.

 HIV
Major Route of HIV infection in children is mother to child transmission
which occurs in pregnancy (intrauterine), intrapartum, or through
breastfeeding (postpartum).
Diagnosis  Before 18 months of age antibody does not distinguish
between infection and exposure from transplacental maternal IgG HIV
antibodies so diagnosis depends on HIV DNA PCR, after 18 months of
age depends on antibodies. Two negative HIV DNA PCRs within the first
3 months of life, at least 2 weeks after completion of postnatal ART indicate
 the infant is not infected.
Immunization  HIV patients should follow the routine vaccination
schedule with the exception that BCG should not be given as it can cause
disseminated disease. If CD4 count >200 Varicella vaccine although live
attenuated vaccine can be given safely.
Reduction of vertical transmission  If viral load >1000 copies/mL give
Zidovudine & C-section. Avoid breastfeeding, avoid prolonged rupture of
membranes and unnecessary instrumentation.

 Lyme disease: Late stage of lyme disease occurs weeks to months with
neurological (meningoencephalitis, facial nerve palsy, and peripheral
neuropathies), cardiac (myocarditis, and heart block), and joint disease.
Treat with doxycycline if > 8 years, amoxicillin if <8 years. IV Ceftriaxone
is given for carditis or neurological disease.

14) Growth and Puberty

 Standard deviations or Z scores: 0 Mean, +1 or 85th percentile, +2 or 97th
percentile, -1 or 15th percentile, -2 or 3rd percentile

 Expected height: if boy add 13 cm to mother‟s height and average with his
father. If girl subtract 13 cm from father‟s height and average with her
mother.

 Females features of puberty: 1) Breast development with palpable breast

buds being the first sign. 2) Pubic hair growth and rapid height growth
occurs almost immediately after breast development 3) Menarche occurs on
average 2.5 years after the start of puberty with only 5 cm height gain
remaining.

 Males features of puberty: 1) Testicular enlargement of over 4 mL volume

2) Pubic hair growth 3) Rapid height growth after a delay around 18 months
when testicular volume is 12mL to 15mL measured using orchidometer.
 Indications for GH in short stature include CKD, Prader willi syndrome,
Turner syndrome, SGA, GH deficiency.

 Causes of short stature: 1) Familial 2) Constitutional delay of puberty 3)

SGA and extreme prematurity 4) Chromosomal disorders or syndromes such
as (Down, Turner, Noonan, and Russel-Silver syndromes), 5) Nutritional or
chronic illness 6) Pschyosocial deprivation 7) Endocrine diseases such as
(Hypothyroidism, GH deficiency, IGF-1 deficiency and steroid excess),
Laron syndrome  defective GH receptors resulting in GH insensitivity.

 Upper to lower ratio of height: sitting height is upper and subischial height
(subtract sitting height from total height) is lower. (Upper to lower ratio is
1.7 at birth, 1.3 at 3 years, and equalizes at 7 years)

 Generalized craniosynostosis with syndactyly in apert syndrome, with

exophthalmos in Crouzon syndrome. Localized craniosynostosis of coronal
suture results in brachycephaly, craniofacial surgery is required to prevent
visual loss and cerebral damage from increased ICP.

 Female with precocious puberty: Do GNRH Test, if prominent LH rise then

MRI of brain (normal – idiopathic, abnormal – Organic). If slight LH rise or
no rise then peripheral precocious puberty (Café au lait spots think of
Mccune-Albright syndrome, other etiologies include [ovarian
cyst,tumor,exogenous steroids, hypothyroidism, HCG secreting tumor])

 Indications for suppression of Precocious Puberty: Age <7 in girls or <8

in boys, BA > 2 SD beyond CA, predicted adult height > 2 SD below
genetic potential or more than 5 cm below midparental height, and
psychosocial disturbances.
15) Neurology
 Causes of ataxia: Friedrich ataxia, ataxia telangiectasia, postinfectious
cerebellitis - Varicella, posterior fossa tumors, Miller-Fisher syndrome (a
variant of Guillian-barre syndrome), mitochondrial disease, anticonvulsants
(carbamazepine, lamotrigine), or toxins (ethanol).

 Friedrich‟s ataxia: Autosomal recessive condition due to GAA repeat on

chromosome 9 in the FXN gene causing a lack of the frataxin protein. Its
similar to Charcot-Marie-Tooth disease with involvement of posterior
columns (Proprioception, and vibratory sense) and typically optic atrophy.

 In ataxia telangiectasia: Autosomal recessive disorder of DNA repair.

Telengiectasia develop in the conjunctiva from about 4 years of age. They
have increased susceptibility to infection, progressive lung disease with
bronchiectasis, and increased risk of hematological malignant disorders,
have a raised serum alpha fetoprotein, and have sensitivity to ionizing
radiation.

 Subdural hematoma due to tearing of the bridging veins, usually seen in

nonaccidental injury associated with retinal hemorrhages (shaken baby
syndrome), and rarely in brain shrinkage through atrophy or over drainage of
hydrocephalus.

 Causes of stroke  Cardiac (congenital cyanotic heart disease such as

tetralogy of fallot, infective endocarditis), Hematological (Sickle cell
disease, Protein S deficiency), Postinfective (Varicella), Inflammatory
disorders (SLE), Metabolic (Homocystinuria, Mitochondrial disorders such
as MELAS Myoclonic epilepsy Lactic acidosis and Stroke, CADASIL),
Vascular malformations (Arteriovenous malformation or moyamoya disease,
and Trauma (dissection of carotid or verterbral arteries).

 Spina bifida occulta is failure of fusion of the vertebral arch, may be

associated with overlying skin lesion such as a tuft of hair, lipoma, dimple,
 birth mark or small dermal sinus (signs of tethering of the cord –
diastematomyelia), look for neurological deficits of bladder/bowel function
and lower limbs.

 Myelomeningocele is associated with paresis of lower limbs, muscle

imbalance which may cause dislocation of the hips and talipes, sensory loss,
bladder denervation, bowel denervation, and/or chiari type 2 malformation
(herniation of the cerebellar tonsils and brainstem tissue through the
foramen magnum) leading to noncommunicating hydrocephalus.

 Signs of hydrocephalus include enlarging HC, separated sutures, distended

veins, sun set eyes, and percussion note. Treat with ventriculoperitoneal
shunt with valves to prevent low pressure headaches.

 Neurofibromatosis type 1  50% de novo mutation, inherited as autosomal

dominant mutation of neurofibromin-1 gene (NF1), they have increased risk
of visual or auditory impairment, learning difficulties, and epilepsy. In order
to make the diagnosis two or more of these criteria need to be present: Café
au lait spots (6 or more greater than 5mm before puberty, 15mm after
puberty), axillary freckling, neurofibroma, first degree relative with NF-1,
optic glioma, lisch nodule (a hamartoma of the iris).

 Tuberous sclerosis on radiology there are subependymal nodules and cortical

tubers.

 Sturge-Weber syndrome  Hemangiomatous facial lesion (port wine stain)

in the distribution of trigeminal nerve associated with an ipsilateral
leptomeningeal angioma. It may present with epilepsy, intellectual
disability, and a contralateral hemiplegia. High risk of ipsilateral glaucoma
in 50% of children. (Calcification of the gyri used to show Rail road track
calcification on skull x-ray)

 Generalized seizure: From both hemispheres, symmetrical seizure, no

warning, with loss of consciousness if >3 s duration
 Focal seizure: From part or one cerebral hemisphere, may be preceded by
an aura which reflects site of origin, may or may not be associated with
change of consciousness, and may evolve to secondary generalization.

 West Syndrome  3-12 months of age, multiple bursts often on waking in

the morning. EEG shows hypsarrythmia, treat with vigabatrin and/or
corticosteroids (Vigabatrin causes irritability and restriction of visual
field).

 Childhood absence epilepsy  4-12 years of age, momentary

unresponsive stare with motor arrest, may twitch their eyelids, last only few
seconds <30s, developmentally normal but interferes with schooling. Two
thirds are female, episodes can be induced by hyperventilation, EEG shows
3 per second spike pattern. Treat with ethosuximide (S/E include nausea
and vomiting).

 Juvenile myoclonic epilepsy  10-20 years of age, typical history is

throwing drinks or cereal about in the morning as myoclonus occurs at this
time shortly after waking.

 Benign rolandic epilepsy  benign epilepsy with centro-temporal spikes,

4-10 years of age, relatively benign and may not require antiepileptic drugs.
Tonic clonic seizures in sleep, or simple focal seizures with awareness of
abnormal feelings in the tongue and distortion of the face. EEG shows focal
sharp waves from the rolandic area.

 Panayiotopoulos syndrome (early onset benign occipital epilepsy) 1-5

years of age, autonomic features with vomiting and unresponsive
staring in sleep with head and eye deviation. EEG shows posterior focal
sharp waves and occipital discharges.
Introduction Slides

Dr Mutaz Sultan:

 Diarrhea in children = >10 g/kg/day

 Acute diarrhea <14 days duration, Chronic diarrhea >14 days

 Stool osmolality gap = stool osmolality – 2(Na + K in the stool).

Normal = 290

 Allergic colitis is more common in formula fed infants, rarely in

breastfed

 Treatment of salmonella prolongs shedding, only treat in young infants,

Shigella causes seizures because of high fever, and treat with 3rd generation
cephalosporin.

 Normal GGT & cholestasis  PFIC 1&2, or Bile acid synthetic disorder

 GGT can be elevated in bile duct injury, anticonvulsant use, and injury of
brain, kidney, pancreas, and small bowel.

 The concordance rate for monozygotic twins was 58% in CD and 6% for UC

 Turner syndrome is a genetic syndrome associated with IBD

 FTT is a descriptive term not a diagnostic term

 Indications of hospitalization in FTT: severe malnutrition, failure of

outpatient management, concerns of child abuse, and severe parental axiety.
Dr Abdelsalam Abu Libdeh:

 Estrogen is responsible for the process of bone maturation, which leads to

epiphyseal fusion and cessation of growth; also it stimulates GH which is
responsible for the pubertal growth spurt.

 Peak height velocity in girls occurs early (at breast 2-3 tanner stage) and
always precedes menarche. In males, growth spurt occurs 2 years later in
genital tanner stage (4-5)

 DHEAS begin to increase at 6-8 years of age before any increase in LH or

sex hormones and its serum concentration is stable over 24hrs.

 Prematurity, SGA, and Obesity are associated with premature pubarche,

due to secretion DHEAS and increased urinary 17-ketosteroid.

 In girls precocious puberty is 90% idiopathic, whereas in boys it‟s mostly

due to structural CNS abnormality.

 Indications for suppression of Precocious Puberty: Age <7 in girls or <8

in boys, BA > 2 SD beyond CA, predicted adult height > 2 SD below
genetic potential or more than 5 cm below midparental height, and
psychosocial disturbances.

 CAH treatment: 15-20 mg/m2/day of hydrocortisone in 3 divided doses,

needs to be increased 2-3 folds in stress such as surgery or infection.
0.1 mg/day of fludrocortisone.

 In diagnosis of congenital hypothyroidism: T3 may be normal and not

helpful in diagnosis, T4 and free T4 are low, and TSH is high.

 TRH is elevated which will cause elevation of Prolactin

Dr.Motee Ashhab

 ADHD symptoms begin <7 years of age, and present for >6 months
duration. Symptoms must be present in >2 occasions.

 Permanent character in school and home, resulting in poor school

performance, and social impairment.

 ADHD is related to Dopamine receptors particularly D4 receptors.

 Dravet syndrome is severe myoclonic epilepsy of infancy

 Funny turns are triggered

 Janz syndrome is Juvenile myoclonic epilepsy (lifelong therapy may be

needed). In Epilepsy with generalized tonic clonic seizures also

Dr.Bassam Abulibdeh – Growth measurements

 Average weight of newborn is 3250g (range 2500-4000g)

 In 1st year of life weight gain is 6 kg: 3 kg in first 4 months, 2 kg in second 4
months, and 1 kg in third 4 months.
 During first few days‟ newborns lose up to 10% of birth weight, due to
fluids loss, after 7-10 days will start to gain weight.
 Newborn double his weight at 4-5 months, and treble it by 1st year of age.
 Between 2-7 years: Weight = 2 x Age (yrs) + 8
 Between 7-12 years: Weight = ( [7 x Age (yrs)] – 5 ) / 2
Avg. 3.5 kg/year weight gain

 Average length of newborn is 50 cm (range 47-56 cm)

 In 1st year of age = increase 25 cm in length (Average 2 cm/month)
 In 2nd year = increase 12 cm in length (Average 1 cm/month)
 In 3rd year = increase 6 cm in length (Average 0.5 cm/month)
 Newborn double his length at 4 years of age, reach 100 cm or 1 m
 Length 4 – 12 years = [ Age (yrs) x 5 ] + 80 (Average 5 cm/year)
  Upper to lower ratio: 1.7 at birth, 1.3 at 3 years, 1 (equals) at 7 years

 Average head circumference at birth is 35 cm (range 33-37 cm)

 HC at 1st year of age is 47 cm (increased 12 cm in 1st year then 12 cm
throughout his life)
 In first 3 months HC increase by 6 cm (0.5 cm/week on average) and 6 cm in
the rest 9 months (0.67 cm/month on average)
 In 2nd year of life HC increases 2 cm = 49 cm
 2 – 16 years of age HC increases by 0.5 cm/year

Dr. Motee Abu Awwad

 Male gender is a secondary risk factor of neonatal sepsis

 Coagulase negative staphylococcus needs 2 positive blood cultures or one
positive culture with raised CRP
 Urine culture is low yiled in early onset neonatal sepsis
 I/T ratio of neutrophils > 0.2 has the best sensitivity of neutrophil indices
to predict bacterial sepsis
 Initial treatment for early onset sepsis is with ampicillin and gentamicin
IV, duration if rule out sepsis 48-72 hours, pneumonia 5-7 days, sepsis 7-10
days, meningitis 14-21 days.
 If late onset sepsis empiric therapy with Vancomycin and Gentamicin IV

 Most defects of diaphragmatic hernia on left side, are posterolateral

(Bochdalek's hernia)
 Congenital Diaphragmatic Hernia is a physiologic emergency not a
surgical emergency. Ventilation with amgu bag or mask is
contraindicated
 Proximal TEF is the least common subtype (Type B)
 VSD is most common congenital heart disease associated with TEF
 Duodenal Atresia most common associations are with down syndrome,
and annular pancreas.
  Omphalocele are more common in males. It‟s the second most common
abdominal wall defect after gastroschisis (also more common in males)
 Omphalocele is more likely to be associated with congenital defects such
CHD or beckwith wiedmann syndrome or trisomy 13/18
 Gastroschisis defect is paraumbilical almost always to the right of the
umbilicus.

 Main mechanism by which phototherapy reduces jaundice is by structural

isomerization of bilirubin into lumirubin which is water soluble. Its
irreversible
 Another mechanism is by photoisomerization from 4Z,15Z isomer to
4Z,15E isomer. It‟s a reversible step, which may result in rebound
hyperbilirubinemia.
 Last mechanism is by photo-oxidation slow process
 Wavelength of phototherapy 425-475 nm from the blue-green band
 60% of presentation of septic shock is cold shock: Low CO, High SVR

Fluids and Electrolytes – Dr Sudqi

 Serum osmolality = 2(Na) + BUN/2.8 + glucose/18

–Normal value is 275-295 mOsm/L

 Fractional Excretion of Sodium FeNa = (UNa/PNa) x (PCr/UCr)

 Hypernatremic dehydration give falsely low estimation of severity of

dehydration, because ECF is hypertonic which leads to movement of water
from intracellular compartment to extracellular compartment via water
permeable semi membrance (Osmosis) which makes signs and symptoms of
dehydration difficult to assess.

 Signs of severe dehydration: Lethargy, hypotension, poor capillary refill

time and anuria.
 Duration of illness if <3 days fluid loss is mainly ECF (80%) and ICF
(20%). If >3 days fluid loss is 60% ECF and 40% ICF.

 Hypoosmolar ORS: 75 Sodium, 65 Cl, 20 K, 75 Glucose, Osmolarity 245

Standard ORS : 90 Sodium, 80 Cl, 20 K, 111 Glucose, Osmolarity 311

 Supplementary ORS is given to replace ongoing losses from diarrhea or

emesis. 10mL/kg of ORS is given for each stool, and 3-5 ml/kg for emesis.

 If patient is hemodynamically unstable or in shock, “one or more” boluses of

20 cc/kg isotonic fluid (0.9%NS or LR) should be given in the first 30
minutes. Then calculate fluid deficit, maintenance, give half of deficit +
maintenance over 8 hours, other half of deficit + maintenance over 16 hours.

 Moderate dehydration no need to give bolus, just give deficit (50-100 ml/kg
over 4 hours) + maintenance.

 In symptomatic hyponatremia (seizures, unresponsive) correct Na by 1-2

over 1 hour for several hours if severely symptomatic

 Change in sodium per liter = (Fluid sodium – Serum Sodium) /( TBW + 1)

 Infants with hypernatremia: tachypnea, muscle weakness, restlessness, high-

pitched cry, insomnia, lethargy, or coma. Seizures are uncommon.

 Osmotic threshold for thirst = 5-10 mOsm/L above that for ADH release

 V2 receptors: Kidneys renal collecting duct cells when AVP binds it

stimulates adenyl cyclase → cAMP  Aquaporin-2 (AQP-2) water channels
are shuttled to apical plasma membrane  Increased water reabsorption.