Paediatrics
Term: 37-42 weeks
Pass meconium in first 48 hours
(black sludge, almost odourless),
pass urine in first 24 hours
Meconium is usually retained in
infant’s bowel until after birth. It is
sometimes expelled into the
amniotic fluid prior to birth, during
labour and delivery > sign of foetal
distress > risk of meconium
aspiration > doctors often aspirate
meconium from mouth and nose at
birth.
Failure to pass meconium =
symptom of CF & Hirschsprung’s
disease
Meconium shows presence of
lactobacilli & E. coli
Stool progresses toward yellow
(digested milk).
Normal birth length: 50-60 cm
● 1st year: 25 cm
● 2nd year: 12 cm
● 3rd year on: 6-10cm/year until
puberty
Head circumference: 32-37 cm
● >0.5cm/week
● 48cm by first year
● Reflects brain growth
● In IUGR: OFC will be normal but
height and weight reduced
Normal birth-weight: 2.5-3.5 kg Caloric requirements
▪ Regain BW by 2 weeks (with Premature: 80kcal/kg/day
initial weight loss of 10% birth-
Newborn: 120kcal/kg/day
2wks)
▪ 200g/week for first 3 months
6mths-3yrs: 90 kcal/kg/day
▪ 150g/week for 2nd 3 months
▪ 100g/week for 3rd 3 months 3-10 yrs: 70 kcal/kg/day
▪ 50-75g/week for 4th 3 months
12-18 yrs: 40 kcal/kg/day
▪ 600g / month first 6 months
▪ 100 kcal/kg first 10 kg
▪ 500 – 550g / month second 6
months ▪ 50 kcal/kg next 10kg
▪ Birth weight doubled at 4
▪ 20 kcal /kg thereafter
months / trebled at 1 year
▪ Normal weight gain in first year:
6000-6300g
Breast milk Is nutritionally complete
for first 6 months of life (except Vit D)
16 ounces in 1 pound
▪ Contains more whey (70% vs
1 ounce=30g
20%) and less casein (30 vs
80%) than formula
67 kcal /100ml standard formula
To get 100kcal /kg:
100 kcal/kg/day x (100 ml / 67 kcal ) =
150 ml/kg/day
Begin 60, 80, 100, 120 ml/kg/day in
 first 4 days

Growth is most sensitive indicatory

of health—occurs if healthy,
adequately nourished, emotionally
secure

Begins in utero—till conception

Nutritional growth most important

in first 2 years of life

Bone Age Height velocity Genetic Factors Pubertal Growth

● Tells us about growth potential ● Measurements made a year apart ● Parental heights give indication Puberty (females): 8cm/year peaking
● Greulich-Pyle and Tanner- ● 4-6cm/year in childhood of target height at 13 years, 1 year after breast
Whitehouse systems budding; by menarche growth almost
● If bone age>>chronological age: Height 2-height 1 Interval (decimal complete with 3-5cm more post
o Tall stature: worry years) Girls: (Father’s height + mother’s
about brain tumour height -12.5cm) / 2
o Short stature: worry b/c Puberty (males): testicular volume 10-
less room for growth 15mL in mid-late puberty→reach
● If bone age<<chronological age: maximum height
Boys: (Father’s height + mother’s
o Short stature: promising
height + 12.5 cm) /2
growth still ahead
● Boys start pubertal growth spurt
2 years later, with greater
intensity

Short Stature Non-Endocrine Tall Stature Investigations

● Below 3rd centile ▪ Familial ● >99th centile ● FBC, electrolytes, U/E

● 95% due to familial and ▪ Constitutional delay (delayed ● Renal profile
Non-Endocrine
constitutional delay puberty, growth spurt and ● Liver profile
maturation with resulting normal Familial ● TFTs
height) ● Bone scan/age
Endocrine (5%) ▪ IUGR/SGA ● Glucose, Hb1Ac
▪ Hypothyroidism ▪ Chronic disease Chromosomal ● Hormones—GH, cortisol,
▪ Panhypopituitarism ▪ Malnutrition androstenedione, PRL
▪ Cushings ▪ Coeliac disease **Syndromes (Marfan’s Klinefelter’s, ● Karyotype analysis
Sotos)
▪ GH deficiency/insufficiency ▪ Skeletal dysplasia (achondroplasia) ● Genetic testing
▪ Metabolic ▪ Chromosomal (Turner’s, Prader- ● MRI brain
▪ Steroids Willi) ● Ophthalmology consult
▪ Idiopathic—birth trauma, Endocrine
hereditary or isolated hGH
GH secreting tumours--Gigantism
deficiency
Precocious puberty

Hyperthyroidism

Simple obesity

Homocystinuria **

Constitutional Growth Delay Pulse Rate Respiratory Rate

● Temporary delay in the skeletal growth and thus height of a child with no other <1 year: 110-160 Neonate N=30-50 T>60
physical abnormalities causing the delay
● Variant of normal growth 2-5 years: 95-140 Infants N=20-30 T>50
● Most common cause of short stature and delayed puberty (M>F)
● Psychological difficulties, warranting treatment for some individuals 5-12 years: 80-120 Young Children N=20-30 T>40

Presentation: >12 years: 60-100 Older Children N=15-20 T>30

▪ Normal size at birth
▪ Deceleration in both height and weight velocity typically occurs within the first 3-6
↑ with stress, exercise, fever, Normal chest expansion: 3-5cm
months of life arrythmia
▪ Most children resume a normal growth velocity by age 2-3 years.
▪ During childhood, these individuals grow along or parallel to the lower percentiles
of the growth curve.
▪ Bone age < chronological age (2-4 years by late childhood)
▪ Because the timing of the onset of puberty, pubertal growth spurt, and epiphyseal
fusion are determined by a child's skeletal age (biologic age), children with CGD
are often referred to as "late bloomers.”

Investigations: Delays in growth and sexual development are quantified by bone age →
Growth and development are appropriate for an individual's biologic age (skeletal age)
rather than for their chronologic age.

DEVELOPMENT
Gross Motor Fine Motor (and vision) Speech and Hearing Social

Newborn Limbs flexed Follows face in midline Startles to loud noises

Symmetrical postures

Marked head lag

6 weeks Raises head to 45 degrees Follows moving object or face Smiles responsively

4 months Sits supported Reaches for toys Vocalizes alone or when

spoken to, coos, laughs

6 months Sits without support (round Palmar grasp Turns to soft sounds out of Puts food in mouth
back) sight

8 months: straight back

7-10 months 8; Crawling 7: Transfers objects from one 7: sounds used

hand to the other indiscriminately
10: Walks around furniture
10: Pincer grip 10: sounds used
discriminately to parents

1 year Walking unsteadily 2-3 words other than dada, 10-12: Waves bye bye
mama
Broad gait Peek a boo

Drinks from cup with 2 hands

15 months Walks alone, steadily 16-18: Marks paper with
crayons
18: Tower with 3 blocks
2 yrs: “ 6 blocks, line
18: 6-10 words
Shows two parts of the body
20-24: 2 ore more words to
make simple phrases
18: Holds spoon and gets food
to mouth
18-24: Symbolic play
2 yrs: dry by day; pulls off
some clothing
 3 yrs: ‘ 9 blocks, circle 2.5-3 yrs: Talks constantly in 3 yrs: Parallel play, takes turns
3-4 word sentences
4 yrs: cross

4.5: square

<5: triangle

CHILDHOOD INFECTIONS

Occult Bacteremia High index of suspicion for illness if: Empirical Abx with rectal T > 38 and >15,000 WBC
▪ Fever (>38) rectally that lasts <1 week with >1500 bands
▪ WBC >15, 000
▪ Children <36 months
▪ Blood cultures are positive ▪ Neonates: GBS, E. coli, listeria
▪ Bacteria present in blood but no obvious focus
▪ If temperature is >39→ urine, stool and blood ▪ Infants: S. pneumonia
of infection
culture, CXR
▪ Likely organisms: S. pneumonia, N.
▪ Treat empirically until results come back
meningitides, H. influenza Type B, salmonella
▪ If cultures are (+) for S. pneumonia but afebrile, Any infant or child that appears toxic must be
▪ Non-specific signs: poor feeding, decreased
repeal blood culture and consider LP admitted for IV Abx
activity, fussiness, not toxic looking

Fever without a focus IS NOT the same as FUO

Immunizations Killed/Inactivated
Live attenuated
Viral
Viral
▪ Rabies
▪ Measles ▪ Influenza
▪ Mumps ▪ Polio (Salk)
▪ Rubella ▪ Influenza A
▪ Varicella ▪ Hepatitis B
▪ Nasal influenza
Bacterial
▪ Yellow fever
▪ Pertussis
▪ Diphtheria
Bacterial ▪ Tetanus
▪ Pneumococcal
▪ BCG ▪ HiB
▪ Oral typhoid ▪ Meningococcal
▪ Smallpox

MENINGITIS
Suspect this in any ill baby or child Pathogenesis Investigations Meningococcal Disease (Grp B)

Pathogens depend on age: URTI→bacteremia (blood stream)→ FBC, CRP (↑/↓), U/E ▪ If suspect→ give penicillinIM ASAP
seeding and inflammation of meninges ▪ Presents as meningitis or sepsis
Neonatal Period Blood glucose: elevated due to (meningococcemia)
stress o Mgt different
▪ Group B Strep (50%)
▪ E. coli (20%) Symptoms Depend on Age Blood Culture ▪ Endotoxin→vasodilatation→ third
▪ Listeria (7%) spacing →shock
▪ Misc GN (10%) Young Child Blood PCR: of causative ▪ Fluid resuscitation for profound shock
organism
▪ Misc GP (10%) ▪ Subtle—unusual crying
4 weeks-12 weeks ▪ Poor feeding—anorexia LP: definitive investigation Signs & Symptoms of Septicemia
▪ Lethargy, listlessness
▪ CSF analysis and culture ▪ Fever/vomiting
▪ GBS, E. coli, pneumococcus, ▪ Irritable
salmonella, listeria, H. ▪ Drowsy, quiet ▪ Abx treatment decision ▪ Cold hands/shivering
▪ Improves outcome ▪ Rapid breathing
influenzae ▪ High or low temperature
▪ Convulsions ▪ Do not delay in ▪ Stomach, joint, muscle pain
>3 month of age ▪ Nausea/vomiting neonates/infants ▪ Drowsy
▪ In older children, send
▪ Neisseria meningitidis Older Child other investigations first Petechial Rash
▪ Strep pneumonia
▪ H. influenza (rare with HiB) ▪ Fever ▪ Differentiated from other causes by a
▪ Vomiting Contraindications rapidly spreading, non-blanching,
Viral Causes petechial rash which may precede
▪ Photophobia* (late sign)
▪ Chills ▪ Systemically unwell other symptoms.
▪ Enterovirus (commonest in ▪ Signs of cerebral ▪ Trunk, lower extremities, skin folds,
 <3mths) ▪ Severe headache herniation or ↑ICP mucous membranes, conjuctiva, and
▪ Herpes, influenza, rubella, ▪ Neck pain and stiffness ▪ GCS <8 palms of the hands or soles of the feet.
echo, coxsackie, EBV, ▪ Seizures* ▪ Abnormal pupils ▪ Petechiae and purpura +/-
adenovirus ▪ Kernig’s—resistance to ▪ Abnormal tone meningitis→ purpura fulminans
extending knee with flexed hip ▪ Papilloedema
Pathogens depend on underlying Complications
▪ Brudsinski’s—hips flex on ▪ Focal neurological signs
conditions: bending head forward ▪ Cardioresp compromise ▪ Waterhouse-Friderichsen
VP Shunt ▪ Obvious signs of syndrome→hemorrhage of adrenal
meningococcaemia glands secondary to sepsis→adrenal
▪ Clinical Signs of Meningitis
S. epidermidis ▪ Thrombocytopenia— crisis
▪ S. aureus worry about bleeding
Infection/sepsis: fever, pallor, cyanosis, ▪ Severe hypotension and septic shock
▪ Coliforms DIC, ↑HR, ↓BP, ↑ capillary refill time, ▪ Infection of skin over ▪ DIC
tachypnoea,↑WCC site ▪ Acidosis
Head Injury
▪ DO NOT DELAY Abx FOR ▪ Adreno-cortical insufficiency
▪ Raised ICP: ↑ BP with ↓HR, CT SCAN
S. pneumoniae if there is ▪ Renal and HF
CSF leak bulging/tense fontanelles, ▪ Normal or low WCC/ESR, BP <70, rash
▪ S. aureus papilloedema(blurring of optic disc onset w/in 12 hrs=poorer prognosis
▪ Pseudomonas margins), high-pitched cry, HA, emesis,
oculomotor or abducens palsies, apnea,
decorticate or decerebrate posturing,
stupor, coma
High vaginal swab to test for GBS—
antepartum penicillin Nuchal rigidity: stiffness

Vaccinations available for HiB, Men Rash: non-specific, blanching

A and C, polyvalent pneumococcal progressing to non-blanching purpuric
rash

Treatment Complications
Normal Bacterial Viral TB
Initial Empirical Abx: Cefotaxime/ceftriaxone + ▪ ↑ ICP with herniation and seizures
Protein 0.3-2.0 ↑ N/↑ ↑ vancomycin ▪ Circulatory collapse (tachycardia,
hypotension, ↓ cap refill)
Glucose >2/3 of Normal/ N /↓ ↓ Abx depends on pathogen, resistance of local ▪ Septic shock→DIC
 blood ↓ pathogens, and penetrance of CSF ▪ Focal neurological abnormalities—CN
palsies, stroke
WCC 5-15 ↑PMN ↑ ↑ <2 months: Triple therapy→cefotaxime, ▪ Hydrocephalus
Lymph Lymph gentamicin, and ampicillin (3/52)
No PMN 1000- ▪ Cerebral oedema
5000 10-100 50-500 >2months: ceftriaxone +/- vancomycin ▪ Brain abscess
▪ Arteritis/venous thrombosis
Gram + - + ZN If suspect ▪ Subdural effusions—esp in infants with
stain HiB
→ S. pnemoniae→vancomycin (7-10 days)
Aseptic/Viral Meningitis ▪ Seizure
→N. meningitides→ penicillin (5-7 days) ▪ Hearing impairment (haemophilus)
▪ HA, hyperesthesia in older children ▪ Highest mortality in neonates and
▪ Irritability and lethargy in infants → HiB→ ampicillin (7-10 days) adults
▪ Fever, nausea, vomiting, photophobia, neck, leg and ▪ Less: MR, developmental delay, visual
Dexamethasone now recommended for all types
back pain impairment
of bacterial causes (esp Hib and pneumococcal)—
▪ Exanthems= echovirus and coxsackie, varicella, measles,
improves neuro outcome (hearing), fever and U
and rubleaa
CSF protein—give before Abx
▪ Complications: Guillain-Barre, transverse myelitis,
hemiplegia, cerebellar ataxia and encephalitis (VZV), Prophylaxis—rifampicin for 2/7 (5mg/kg BD)
focal seizures coma and death (Herpes simplex), 8th indicated for Neisseria and HiB
nerve damage (EBV, mumps)

First Disease: Scarlet fever Scarlet Fever (GAS) Measles (rubeola) RNA Paramyxovirus

Second Disease: Measles ▪ Rare in young infant ▪ ‘9 day measles’ Dx: Clinical, viral C/S; serology (IgM
▪ Pharyngitis with exudate ▪ Prodrome 3-5 days response slow)
Third Disease: Rubella ▪ Sudden onset fever o Cough
Tx: Vit A if deficient, ribavirine in IC
Fifth Disease: Erythema ▪ Headache o Coryza
infectiosum ▪ Rash 2 days after (finely o Conjunctivitis Prevention: MMR vaccination
punctate @ trunk, peripheries, o Koplik’s spots
Sixth Disease: Roseola Infantum blanching) o +/- cervical
▪ Late desquamation lymphadenopathy
Complications
▪ Strawberry tongue ▪ Incubation 8-12 days
▪ Circumoral pallor o Fever Otitis media
o Rash→macular; head,
trunk, extremities Pneumonia
 Croup

Diarrhea

Encephalitis

SSPE

Rubella (German measles)
▪ ‘3 day measles’
▪ Mild, self-limited disease in
children
▪ Incubation: 14-21 days
▪ Contagious 2 days before and
5-7 days after rash
▪ Post-auricular and occipital
lymphadenopathy
▪ Forscheimer spots on soft
palate
▪ Polyarthritis (F>M)
▪ Mild fever + Rash→ similar to
measles; begins on face and
spreads down—lasts 3 days
▪ DX: Clinical, confirm with
serology
▪ Tx: Supportive
▪ Prevention: MMR
Complications: Congenital rubella
syndrome if contracted during
pregnancy; polyarthralgia,
thrombocytopenia, encephalitis
Fifth’s Disease
▪ Erythema infectiosum
▪ Parvovirus B19 (DNA virus)
▪ Mild systemic symptoms
▪ Slapped cheek
▪ Lacy reticular rash over trunk and
extremities
▪ Rash can last up to 40 days!
▪ Arthritis
Dx: Clinical, labs not routine except
when Dx hydrops, then viral DNA in
fetal blood is helpful
Complications
▪ Abortion
▪ Stillbirth
▪ Hydrops fetalis
▪ Aplastic crisis in those with
hemolytic anemia
Sixth Disease
▪ HHV-6—Roseola, exanthema subitum
▪ Peaks in children <5, usually 6-15
months
▪ Incubation: 5-15 days
▪ Prodrome 3-7 days: High fever and
signs of URTI, occipital
lymphadenopathy
▪ Rash on 3rd day→ maculopapular on
trunks, arms, neck, face; rose coloured,
begins as papules
▪ No studies necessary
▪ Treatment is supportive
Complications
▪ Febrile seizures
▪ Encephalitis

Varicella Zoster Chicken Pox (VZV) Complications EBV

▪ Congenital (rare) ▪ Incubation: 10-21 days ▪ Scarring ▪ Fever, lymphadenopathy

▪ Primary—chicken pox ▪ Respiratory secretions ▪ Cellulitis/lymphadenitis ▪ Hepatosplenomegaly +/- hepatitis,
▪ Reactivation—herpes zoster ▪ Prodrome: fever, malaise, m ild ▪ Encephalitis, hepatitis jaundice
(remains latent in sensory abdominal pain ▪ Post-infectious cerebellar ataxia ▪ Pharyngitis
ganglia after recovery from ▪ Rash is pruritic—macule, papule, ▪ Chicken pox pneumonia ▪ Skin, rubelliform rash (10%)
 primary infection)
Mumps
▪ Paramyxovirus
▪ Droplet and secretions Tx
▪ Incubation: 14-24 days
▪ Contagious 1 day before and
3 days after parotid swelling
appears
▪ Fever, HA, malaise
▪ Unilateral or bilateral salivary
gland swelling (+parotids)
▪ Arthritis
▪ Orchitis—can result in
sterility if bilateral
Herpes Simplex
▪ Acute gingivostomatitis
▪ Fever
▪ Herpetic whitlow (skin)
▪ Acute vulvo-vaginitis
▪ Herpetic keratoconjunctivitis
vesicle, pustule @ different ages
▪ Centripetal crops:
trunk/face→extremities; 3-5
days
▪ Dx: No labs; Tzank smear of
lesion reveals MNG cells
▪ Symptomatic Tx
▪ Acyclovir and VZIg in IC or those
at risk for severe disease
Dx: enzyme immunoassays for IgG
and IgM, ↑ serum amylase
Tx: supportive; steroids/NSAIDs for
arthritis
Complications: meningo-
encephalomyelitis, pancreatitis,
thyroiditis, myocarditis, deafness,
dacryoadenitis
Kawasaki Syndrome
▪ Acute vasculitis of small to
medium arteries→ aneurysms in
coronary arteries
▪ Median age: 10 months; 80%
under 5 years
▪ Hemorrhagic progressive VZV
▪ Reyes syndrome (ASA)
▪ Guillian-Barre
▪ Post-herpetic neuralgia
▪ Ramsey Hunt Syndrome
Scabies
▪ Due to Sarcoptes scabiei that
burrows and releases toxic
substances
▪ Intense itching at site of infection
especially at night
▪ 1-2mm red papules with
excoriation, crusting, scaling
▪ Appears like thread-like burrows
under skin
▪ Infants→ can involve palms, face,
soles, scalp
▪ Older children→between webs of
fingers, wrist flexors, anterior
axillary folds, ankles, areola,
buttocks, genitals
Diagnosis
▪ ↑ Acute phase reactants (ESR)
▪ ↑ CRP--@4-8 weeks
▪ Normochromic, normocytic
anemia
▪ Leukocytosis with left shift
▪ Pneumonitis
▪ ↑ lymphocytes; atypical >10%
▪ Monospot test
DX: microscopic scraping
Treatment
▪ >2 months: permetrin 5% or Lindane
1% (potentially neurotoxic) on entire
body from neck down
▪ <2months: 6% sulfur in petrolatum
▪ Launder all linens and clothes in hot
water to sterilize
▪ Treat entire family
Treatment
▪ High dose aspirin 30-50mg/kg/day until
fever resolves, then 3-5mg/kg/day
▪ IVIg 2g/kg, single dose
▪ Plasma exchange
▪ Add warfarin if at risk for thrombosis
▪ Herpetic encephalitis
▪ Neonatal herpes
▪ Recurrent cold sores
Pertussis
▪ Bordetella pertussis
▪ Very contagious, by droplets
▪ Re-infection possible
▪ Whooping cough
▪ Missed immunizations
▪ NPA culture
▪ PCR
▪ Lymphocytosis
▪ 12 days, self-limiting
Fever >5 days + >4 of following:
▪ Bilateral, non-purulent
conjunctivitis
▪ Cervical lymphadenopathy
▪ Pharyngeal injection, dry
fissured lips, strawberry tongue
▪ Pleomorphic rash (esp trunk)
▪ Extremity change: arthralgia,
palmar erythema, fingertip
desquamation, swelling of
hands/feet
3 phases
Catarrhal: 2 wks→ cold-like Sx
Paroxysmal: 2-5 wks→severe
coughing, inspiratory whoop, facial
petechiae
Convalescent: 2 wks→ gradual
resolution of cough
▪ Erythromycin for 14 days ↓
infectious period, may shorten
course of illness
▪ Treat all contacts
TORCH INFECTIONS
▪ Thrombocytosis after 7 days (very high platelets)
▪ ↑ALT, AST
▪ CSF pleocytosis
▪ Sterile pyuria Follow-up
▪ Coronary artery aneurysm (late)
▪ ECHO—repeat at 2-3 weeks, again at 6-
8 weeks if normal
Complications ▪ ECG
▪ Follow platelets
Leading cause of acquired heart 3D coronary magnetic resonance
disease angiography
Coronary aneurysms in 20% w/o Tx
Arrhythmias
MI, reduced contractility
HF
Lyme Disease Treatment
▪ BARC mnemonic ▪ Doxycycline (>8yo) or amoxicillin
▪ Erythema migrans (>10cm) (<8 yo) for 14-21 days
▪ Fever, malaise, HA ▪ If meningitis or carditis: penicillin or
▪ Lymphadenopathy ceftriaxone for 14-28 days
▪ Uveitis ▪ Bell’s palsy: doxycycline or
▪ Bells Palsy amoxicillin for 21 days
▪ Carditis ▪ Late disease: give for 28 days or 2nd
▪ CNS: meningitis, neuropathy course if required
▪ Late: arthritis of large joints
Toxoplasma gondii Rubella CMV

▪ Triad of chorioretinitis, intracranial ▪ Deafness, cataracts ▪ Petechial rash

calcifications, and hydrocephalus ▪ Heart defects (PDA, pulmonary artery stenosis) ▪ Intracranial calcifications
▪ Hepatomegaly ▪ Microcephaly ▪ Mental retardation
▪ Rash ▪ Mental retardation ▪ Hepatosplenomegaly
▪ Seizures ▪ “Blueberry muffin baby” rash ▪ Microcephaly
▪ Altered muscle tone ▪ Jaundice

HIV HSV Type 2 Syphilis

▪ Hepatosplenomegaly ▪ Encephalitis ▪ Hepatosplenomegaly

▪ Neurologic abnormalities ▪ Conjunctivitis ▪ Jaundice
▪ Frequent infections ▪ Vesicular skin lesions ▪ Saddle nose
▪ Oral thrush, interstitial pneumonia ▪ Asymptomatic at birth ▪ Saber shins
▪ Lymphopenia ▪ Anything that suggests temporal lobe ▪ Hutchinson teeth
involvement is highly suspicious for HSV ▪ CN VIII deafness
▪ Rhinitis
▪ Cutaneous lesions
Other

Listeria, E.coli, GBS, Hep B, VZV, Parvovirus B 19

Dermatology Impetigo Cellulitis

Hemangiomas—often involute on their own, but
▪ Infection of the dermis ▪ Infection and inflammation of subcutaneous
topical BB (Timolol), oral CS can be used. Surgical
▪ Contagious tissue with limited involvement of dermis and
removal or pulsed laser therapy (for flat lesions) if
▪ Non-bullous—honey coloured, crusted plaques sparing of the epidermis
very large or potentially disfiguring lesions.
o S. aureus, Group A strep ▪ Predisposed by break in the skin
▪ Bullous—infection of infants and young ▪ S. pyogenes and S. aureus
children ▪ Local edema, erythema, warmth, tenderness
Acne o Coagulase positive S. aureus ▪ Indistinct lateral margins
o Localized staphylococcal scalded skin
▪ Propionibacterium acnes Treatment
syndrome
▪ Cleansing of skin with mild soap
▪ Treatment
▪ Benzoyl peroxide Obtain blood cultures if sepsis suspected
o Topical mupirocin
▪ Tretinoin (Retin-A)—single most powerful agent
 for comedomal acne o Oral oxacillin, cephalexin PO dicloxacillin or cloxacillin
▪ Adapalene (Differen gel)
▪ Topical Abx: erythromycin, clindamycin Septic-looking→ IV oxacillin or nafcillin
▪ Systemic Abx: tetracycline, minocycline,
doxycycline, erythromycin, clindamycin
▪ Isoretinoin—moderate to severe nodulocystic
disease (very teratogenic)
▪ COCP

Respiratory System

NB. If nose, throat affected→ viral If tonsils or ears affected separately → bacterial

Illness Presentation Cause Investigations Management

Common Cold Nasal discharge, stuffiness Infections viral URTI Nil Antipyretics (paracetamol)

Sore throat→ cough Lasts up to 7 days Fluid intake

Pyrexia (38) Self-limiting Nasal obstruction/stuffiness relief

Feeding and sleep Avoid tobacco smoke

Myalgia

Lethargy

Anorexia

Sore Throat Conjunctivitis Viral Throat Swab: not sensitive or Supportive and Symptomatic
specific
Pharyngitis Rhinitis Uncommon under 1 year Abx only for severe infection or GABHS
Rapid Ag testing
Tonsillitis Cough Peak 4-7 years 10 days of penicillin

Hoarseness Macrolide for penicillin-allergic

Coryza Group A B-hemolytic strep→ Infectious mononucleosis: acyclovir,

 Anterior stomatitis Fever, diffuse redness of tonsils, ganciclovir
pharyngeal exudates, tender and
Discrete ulcerative lesions enlarged anterior cervical LNs
Viral exanthema

Diarrhea

Otitis Media Red bulging TM Streptococcus pneumonia (40-50) Amoxicillin or macrolides

Fever Haemophilus influenza (20-30)

Pain goes away if drum Morexalla Catarrhalis (10-15)

ruptures

Upper airway obstruction DDx: Bacterial tracheitis, foreign body, inhalation of smoke/hot air, trauma, angioedema, congenital structural abnormality, large
diphtheria pseudomembrane in posterior pharynx

Croup Viral prodrome 3 months-5 years, winter Swelling of glottis and Assess severity: stridor +/- recession +/-
subglottis RD +/- decreased air entry and altered
Laryngotracheo- Runny nose LOC
bronchitis Cellular infiltrate shows
Cough Parainfluenza Type 1-3 histio/lymphocytosis, plasma Admit if: moderate-severe, toxic child,
Congestion Influenza Type A and B cells and PMNs poor oral intake, <6 mths

⇨ Barking cough RSV ▪ Supportive care in calm environment

⇨ Hoarseness ▪ Humidified O2
DON’T examine oropharynx
⇨ Sore throat Adenovirus ▪ Fluids
⇨ Inspiratory stridor Careful with lateral neck ▪ Corticosteroids: Nebulized
Rhinovirus
⇨ RD XRay→bronchospasm! budesonide, oral dexamethasone
Enterovirus (0.15-0.6mg/kg)
Worse at night Steeple sign: See ballooning ▪ Racemic Epinephrine
of hypopharynx, narrowing of
Resolution over 1 weeks tracheal column below cords
Causes oedema of local
respiratory epitheliuam

Foreign Body After witnessed event 3-4 years old commonly Witnessed event Removal by rigid bronchoscope
 Acute choking CXR reveals air trapping

Coughing Peanuts Definitive: Bronchoscopy

Wheezing Coins

Sudden onset RD

Hoarsness

Stridor Harsh, high-pitched sound Obstruction of trachea or larynx Barium swallow,

on inspiration echo/arteriogram can Dx
Laryngomalacia: leading cause in vascular rings
Cyanosis infants; inadequate
development of laryngeal
Problems feeding structures; self-limited
SOB Tracheobronchomalacia:
involves entire trachea

Vascular rings and slings:

abnormal thoracic vessels that
obstruct→dysphagia

Epiglottitis Dramatic onset:
Fever >38.5, sore throat,
SOB, and rapidly progressive
airway obstruction
Toxic appearance
Dysphagia
Drooling
Stridor—late finding
Soft whispering, muffled cry
Haemophilus influenza Swelling of epiglottis and Establish patent airway→
supraglottis
Failure of getting vaccine Endotracheal intubation
Examination: Do nothing to
upset the child
Strep pyogenes ABx to cover staphylococci, HiB and
resistant strep
Strep pneumonia Controlled visualization of
▪ IV chloramphenicol
S. Aureus cherry-red swollen epiglottitis
▪ Anti-staph
Mycoplasma Thumb sign on lateral neck ▪ 3rd gen cephalosporin
Xray
Emergency tracheostomy
Bacterial Brassy cough <3 years old Mucosal swelling at cricoid Abx: Anti-staph
Tracheitis cartilage→copious, thick,
High fever Usually following viral URTI purulent secretions with May require intubation if severe

RD Mostly S. aureus pseudomembranes

NO drooling or dysphagia
Clinical plus laryngoscopy

CXR: subglottic narrowing

(like croup) + ragged tracheal
air column

Retropharyngea Acute upper airway Lateral neck Xray—

l obstruction prevertebral tissue width is
greater than width of
Abscess Drooling vertebral body
Dysphagia

Bronchiolitis Acute RD—oedema, airway Most common in <2years Mild and self-limiting 10% will be admitted
inflammation
Improves in 3 days (up to 12) 1% will require O2
Viral prodrome
RSV(Syncitum, woven 3-7% of that will require ventilation
Runny nose appearance of tissue)
Decrease/absent air entry
Congestion Parainfluenza
Percussion: Hyper-resonant Supportive: Monitor sats and hydration
Poor feeding Adenovirus
Auscultation: Fine crackles, Humidified O2 (<94%)
Fever (<38.3) Influenza all zones, prolonged
expiratory phase Analgesia and anti-pyretics (Nurofen,
Vomiting Rhinovirus Brufen, paracetamol)

Irritability/anxious Mycoplasma IV fluids

CXR:
Cough Bronchodilators
Hyperinflation >8-9 ribs
Wheezing High Risk: Nebulized ventolin (salbutamol)
 Cyanosis/apnea Premature, LBW Flattening of diaphragm Nebulized atrovent (ipratropium)

Laboured breathing Chronic Lung disease Horizontal ribs Racemic epinephrine

Tachypnea/tachycardia <6 weeks Hilar bronchial markings Hypertonic saline 3%

Chest recession Congenital heart disease Occasional collapse Cardioresp monitoring—pulse oximetry

Tracheal tug Underlying immune deficiency Abx only if toxic, WCC>15,000,

progressive changes on CXR, + cultures
Grunting (increase PEEP) ➔ Monoclonal Ab to high risk Lymphocytosis with normal
groups every 3-4 weeks CRP No steroids
Accessory muscles during epidemic months

Pneumonia **Tachypnoea Majority are viral: Chest movement: ↓ on both Admit if <3 months, fever >38.5, refusal
sides, ↓ breath sounds to eat/vomiting, rapid breathing and
Rapid shallow breaths RSV, influenza, adeno, parainflu cyanosis, failure of previous Abx,
Percussion: Dull recurrent, underling disorder
<2 months: >60bpm Newborn:
Bronchial breathing (higher
2-12 mths: >50bpm Group B Strep pitched)
12m-5yrs: >40 bpm E. coli Supportive
Crackles, rhonchi
Viral: Klebsiella Abx
CXR:confirms diagnosis
Mild fever, URTI Sx 1-3 months: chlamydia Augmentin
Viral→ Hyperinflation,
trachomatis (sticky eyes)
If severe: cyanosis, resp bilateral interstitial infiltrates Amoxicillin
fatigue Preschool: Pneumococcus→ confluent Flucloxacillin
Bacterial Pneumococcus (lobar), H. lobar consolidation
influenza, S. aureus (multiple Mycoplasma→unilateral
High fever—chills, acute cavities with fluid/air), GAS, IPD: IV cefuroxime +/- Vancomycin (if
onset lower lobe interstitial—looks
morexella, pseudomonas worse then presentation suspect S. aureus)
Non-productive cough School: Chlamydia→ interstitial or
 Drowsiness Mycoplasma pneumonia lobar

Chest pain Chlamydia pneumonia WBC and differential Chylamydia or mycoplasma:

erythromycin (macrolide)
Streptococcus CRP

Blood culture

Resp secretions C/S

BAL (p. carinii)

Serology (mycoplasma—IgM )

Asthma Cannot diagnose before age Consider Good Hx vital Assess asthma control (5)
5 but pay attn to onset of
Frequency, severity, duration, SaO2 <91% Avoid triggers, inhaler technique,
symptoms/history
home treatments, required past compliance, environment
treatments, baseline peak flow, PEFR<50
# of ED visits, hospitalizations, PaC02 >5.3 KPa (40mmHg)
Dry cough (early) ICU admissions, intubations Reliever( blue): Salbutamol (ventolin),
Wheeze (worse at night) terbutaline (bricanyl), ipratropium
Signs: Harrison’s sulcus, AP (atrovent)
SOB Proposed Triggers diameter increased
Noisy breathing Exposure to allergens Reduced FEV1, PEFR Preventer: Cromoglycate,
Hygiene hypothesis variability >20%, exercise methylxanthines, montelukast
induced bronchospasm,
Infants: may not have (singulair)/zafirlukast, oral prednisolone
Viral respiratory infection sputum with eosinophils
abnormal signs on
auscultation Air pollution/tobacco
Mainstay: Inhaled CS (200-400mg/day):
Stress, emotional factors, cold Chest movement: Reduced budesonide (Pulmicort brown),
air, exercise but hyper-inflated; use of
Chronic inflammation beclomethasone (Becotide), fluticasone
accessory muscles, chest wall (orange)
Reversible airway retraction
obstruction Risk Factors Long acting BD: Salmeterol, formetrol
Percussion: Hyperresonant
 Bronchial hypersensitivity
Reversible bronchospasm
Intermittent exacerbations
Acute asthmatic SOB
attack
Increased RR
Anxious/agitated
Tachycardia
Inspir/expir wheezes
↓ or no air movement
Too breathless to talk/feed
Lethargic
Accessory muscle use
Pulsus paradoxus
Signs of dehydration
Decreased O2 sats
Hypercapnia
Hx of infantile eczema, rhinitis, Prolonged expiration often Combo:
prematurity, mother smoking with wheeze
during pregnancy, RSV, pets Seretide: fluticasone+salmeterol—purple
Symbicort: budesonide+formetrol—red
FHx of atopy—asthma, rhinitis,
smoking, hay fever, food allergy
Life threatening: Management IV access when stable
Silent chest 1. ABCs Monitor PEFR and O2 sats every
2. 02 if sat <92% face mask hour
Weak resp effort 3. Short-acting B2agonist
IV fluids: 10-20ml/kg NS +
Cyanosis (nebulizer, 100% O2—6 puffs of
salbutamol/20min OR maintenance
Reduced LOC spacer/MDI 6 puffs if <6 years
and 12 puffs if <12 years—3
Fatigue
doses over 1 hour) If necessary:Prevents intubation
Pneumothorax IV Mg sulphate (1st line)
Bronchodilators:
Salbutamol 5mg/kg (2.5mg/kg if ▪ 75mg/kg (max 2.5g) over 20
Investigations <5yr), +/- ipratropium (125-250mg) min—20min to work— monitor
BP risk of hypotension
Pulse oximetry Systemic steroid:
IV B-agonist
Labs: UA (dehydration) POprednisolone 1-2 mg/kg qid for 3
days (max 40mg/dose) IV Aminophylline
CXR if infection suspected
IV hydrocortisone 4mg/kg ▪ 20mg/kg over 20 min,
Peak flow continuous infusion 1mg/kg
Takes several hours to work thus
give straightaway Heliox (70:30 He:02)--↓ airway
resistance in 20 min
MDI: older children
May require ventilation
Spacer + face mask: Young
children ● BiPAP:↓ fatigue, improve

Cystic Fibrosis AR disease of c’some 7—
CFTR gene
Failure to thrive
Foul-smelling, greasy stools
Cough—purulent mucous
Salty taste of skin
(>60mEq/L)
↑ potential difference
across nasal epithelium
Antenatal Dx in + FHx
Newborn screen—
immunoreactive trypsinogen
in blood spots
Sweat test
DNA Testing
RDS ▪ Surfactant deficiency
Nebulizer: infants
RESP: Obstruction and infection
of airways →
Exam (CXR): Hyperinflation, ↑
AP diameter, hyper resonance,
rales, bronchiectasis, patchy
atelectasis, flattening of
diaphragm, sternal bowing,
narrow cardiac shadow,
extensive bronchiolitis, clubbing,
expiratory wheeze, SOB, cor
pulmonale, RF, late cyanosis
PFTs: <5 yrs—obstructive, then
progresses to restrictive
(fibrosis)
Sputum (+) for S. aureus, P.
aeruginosa, Burkholderia
cepacia
Opacified paranasal sinuses
Large nasal polyps
GU: azoospermia, ↑ hydrocele,
hernia, undescended testes; 2nd
amenorrheoa, cervicitis, ↓
fertility
Persistently low O2 tension→
GIT: Malabsorption and
maldigestion→ Pancreatic
insufficiency, intussusception, fecal
impactions, reflux, ADEK deficiency,
↑DM, acute pancreatitis, rectal
prolapse
Meconium ileus – may be first
presentation, dilated loops on XR,
ground glass material in lower
central abdomen; gastrografin
enema may clear
Test: 72 hour fecal fat collection,
stool for trypsin, serum
immunoreactive trypsinogen
Hepatobiliary: icterus, ascites,
hepatomegaly, cholelithiasis,
varices, biliary cirrhosis
Lecithin to sphingomyelin ratio in
O2 sats
▪ Intubation: impending RF
Clear airway secretions and
infections
▪ Chest therapy, postural
drainage
▪ Aerosol: albuterol/saline
▪ Daily human recombinant
DNAse (mucolytic)
▪ Abx: P.aeroginosa most
common
▪ Aerosol ABX: tobramycin
▪ IPD: 2 weeks: IV piperacillin +
tobramycin/ceftazidime
▪ Ibuprofen chronically
▪ Pancreatic enzymes with food
▪ ADEK supplementation
▪ Fluid replacement
▪ Supplemental O2 at high [ ]
 leads to ↑ surface risk of PDA the amniotic fluid (<1.5) ▪ Nasal CPAP and/or mechanical
tension and alveolar ventilation
collapse RF: prematurity, maternal ▪ Prevent with maternal steroids ▪ Intra-tracheal surfactant
diabetes (due to elevated before birth (<36 weeks),
▪ Surfactant usually made
at 35 weeks insulin), cesarean delivery (↓ artificial surfactant for infant
release of fetal glucocorticoids)

Chronic Cough Ddx: recurrent RTI, asthma, allergic rhinitis, sinusitis, infections (pertussis, RSV, mycoplasma), inhaled foreign body, lung disease (CF, PCD), GERD,
TB, cigarette smoking, psychogenic

Recurrent wheeze: asthma, post RSV bronchiolitis, recurrent aspiration of feeds, chronic lung disease, CF, pulmonary/cardiac anomalies, maternal smoking, cow
milk allergy/intolerance, GERD

Cardiovascular System

Splitting: Inspiration leads to drop in intrathoracic pressure which ↑ pulmonary capacity—P2 closes later to accommodate more blood entering lungs; A2 closes
earlier because ↓ return to left heart (inspiration brings A2 and P2 further apart)

Fixed splitting: ASD→ L to R shunt→↑ flow through pulmonary valve

Wide splitting: condition that delay RV emptying (pulmonary stenosis, RBBB)→ causes delayed P2 regardless of breath

Paradoxical splitting: condition that delay LV emptying (aortic stenosis, LBBB)→ order of valve closures reversed (P2 before A2; on inspiration brings sounds
closer together)

CYANOTIC HEART Pathology Polycythaemia (↑ Hb, RBCs)

DISEASE
Step down wrt O2 sats (unoxygenated → oxygenated) Relative anemia (if iron low in diet)

Venous blood bypasses lung→ ↓ PaO2 (hypoxemia) CNS abscess, intracranial abscess—vegetations from IE
Right to left shunts to brain
↑ A-a gradient
Thromboembolic stroke (due to polycythaemia)

Clubbing
 Mucosal cyanosis

Infection—infective endocarditis

Poor growth

*Also occurs in Eisenmenger’s syndrome*

Tetralogy of Fallot Most common cause of early cyanosis: 8-10% +/- clubbing

Anterosuperior displacement of infundibular septum Loud ejection systolic murmur along L sternal edge

↓ pulmonary flow 1. Pulmonary stenosis (determines prognosis) Single +/- loud S2

2. RVH
3. Over-riding aorta (over VSD) ECG: Right axis deviation, RVH
4. VSD—usually large, R→ L shunt across VSD causes early cyanosis CXR: Boot shaped heart due to RVH (apex lifted above
Mild: Can be pink initially—‘pink tet’ (ASD and PDA protective—step up O2 diaphragm); normal sized hrt, dark lung fields due to ↓
pulm flow+/- right aortic arch (25%)
in RA and PA)

Severe: cyanosis, dusky blue, marked clubbing, SOB on exertion

Cyanotic/tet spells—occurs when get baby gets upset; acute onset of
hyperpnea and restlessness→ blue→ gasping→pale→syncope/floppy
Tx: Lateral knee to chest position, O2, IM morphine, BB
Learn to squat to improve Sx: Compression of femoral arteries ↑ pressure,
↓ R →L shunt, directing more blood from RV to lungs
Complications if not corrected→ cerebral thrombosis, brain abscess,
bacterial endocarditis, HF
Treatment
PGE1 given if cyanotic at birth to prevent PDA closure
Surgery in first year of life—augment pulmonary BF with
palliative systemic to pulmonary shunt
Corrective surgery: 4-12 months: remove obstructive
tissue, valvotomy, patch VSD
Pulm valve replacement in some

Tricuspid Atresia No outlet from RA to RV (atretic)→Reduced pulmonary BF Severe cyanosis

Entire systemic/VR enters LA from foramen ovale or ASD ↑ left ventricular impulse
↓ pulmonary flow LV blood to RV via VSD is augmented by PDA Holosystolic murmurs along LSB (most have VSD)

Thus, pulmonary BF depends on presence and size of VSD Single S2

Absence of tricuspid valve and hypoplastic RV CXR: pulmonary undercirculation

Requires both ASD and VSD for viability ECG: LAD + LVH

Tx: PGE1 until aortopulmonary shunt can be performed

May need atrial balloon septostomy

Transposition of the Most common cyanotic lesion presenting in immediate newborn period Single loud S2 sound (anterior aorta dominates picture)
great arteries
Parallel circulations: separation of sys/pulm circulations Often no murmur (esp if no VSD)

Aorta off of RV (anterior) and pulmonary trunk off of LV (posterior) VSD present: harsh murmur at LLSB, or holosystolic

Due to failure of aorticopulmonary septum to spiral CXR: Mild CM, narrow mediastinum, normal to ↑ pulm
flow, egg on string appearance of heart
Not compatible with life unless a shunt is present to allow mixing
Tx: PGE infusion to keep PDA open
Can mix at 3 levels: PDA, PFO/ASD, +/- VSD if present
Balloon atrioseptostomy
With intact septum (no VSD), as PDA closes→ severe cyanosis and
tacypnea Sx: Arterial switch operation; w/o Sx most die w/in
first few months of life
Life threatening cyanosis as neonate, O2 sats < 50%

More common in infants of diabetic mothers

Total Anomalous Pulmonary veins drain into right heart circulation (SVC, coronary sinus) CXR: snowman appearance: supracardiac shadow with
pulmonary venous enlarged cardiac shadow
return (TAPVR) Total mixing of systemic venous and pulmonary venous blood
ECG: RVH and tall, spiked P waves (RAE)
Right atrial blood→ RV and PA OR LA (via PFO/ASD)
Tx: PGE1, surgical correction
Enlarged RA, RV and PA

Small LA and normal/small LV

Truncus Arteriosis (1%) Failure of truncus arteriosus to divide into pulmonary trunk and aorta; Initially SEM with loud thrill, single S2 and minimal
 incomplete development of aorticopulmonary septum resulting in a single cyanosis b/c total mixing
great vessel leaving heart and supplying all circulations
Eisenmenger syndrome and early death if not corrected
Therefore, aorta, PA’s, coronary vessels originate from single vessel greatly
CXR: heart enlargement with ↑ pulm BF
↑ → HF
ECG: biventricular hypertrophy

Tx: Treat HF, Sx in first few weeks of life

Critical Pulmonary Reduced pulmonary BF Single S2 +/- systolic murmur

Stenosis/Atresia
Atretic pulmonary valve, hypoplastic RV +/- VSD ECG: Right axis deviation, RVH

Progressive cyanosis as PDA closes CXR: cardiomegaly (if collaterals present) with absent
MPA

Tx: shunt, pulmonary vulvuloplasty, Fontan operation

Mixed prognosis

Hypoplastic Left Heart Underdeveloped left heart: hypoplastic or atretic mitral and aortic valves, Ashen grey colour (low CO)
Syndrome (HLHS) small LV, small ascending aorta, coarctation (any combination)
Cyanosis
RV maintains both pulmonary and systemic ciculation
Signs of HF, shock
Intracardiac mixing: pulmonary venous blood passes through PFO or ASD
Weak/no brachial and femoral pulses—all reduced
from LA to RA

Ductus arteriosus supplies descending aorta, ascending aorta and coronary Single S2; Often no murmur
arteries from retrograde flow ECG: RVH, RAE with ↓ left-sided forces
May present with CVS collapse when PDA closes (hypoxia, acidosis, death) CXnR: +/- cardiomegaly with right parasternal shift,
pulmonary plethora
Systemic circulation cannot be maintained, and if there is a moderate to
large VSD→ pulmonary overcirculation Tx: Palliativ;3 consecutive surgeries: Norwood
procedure/bidirectional Glenn anastomosis/Fontan
procedure; cardiac transplant
 Fetal dx possible >20 weeks gestation

ACYANOTIC ↑ pulmonary resistance due to arteriolar thickening→ progressive pulmonary
HEART DISEASE HT→ R to L shunt eventually (Eisenmenger’s syndrome)
Step Up in Right side of heart wrt O2 sats
Left to Right Arterial blood shunted to venous circulation
Shunts
Does not cause hypoxemia until there is a shunt reversal
Eisenmenger’s: Uncorrected VSD, ASD, PDA causes
compensatory vascular hypertrophy due to overload
of R heart→ progressive pulmonary HT; as pulmonary
resistance ↑shunt reverses to R→L which causes late
cyanosis (clubbing, polycythaemia)

VSD Most common congenital cardiac anomaly Symptoms relate to degree of shunt: VSD size, pulm
vascular resistance
2 main types: membranous (perimembranous)—75%; muscular
If small: no symptoms
When PVR>SCR: Can be single or multiple in any combination
Eisenmenger If large: high pulmonary BF; CHF
Dx: Direct measurement of PO2 and O2 sat in RA, RV, PA
Syndrome
Tachypnoea
O2 step up from RA to RV
Dyspnoea and ↑ work of breathing

Slow feeding/ difficulty feeding

Small VSD=loud murmur (large P diff b/w two spaces)
Failure of thrive—poor caloric intake
Pink, normal pulses, normal S1 and S2 +/-systolic thrill (4/6)
Sweating—related to adrenaline, NE output
Harsh pansystolic murmur LLSE @ 3rd/4th IC—tricuspid area (where septum is
located) Treatment

ECG: Normal (small) ▪ Nil—spontaneous closure in small muscular VSD in

Larger VSD: Mid diastolic murmur @ apex (mitral flow murmur)
Narrowly split S2 and loud P2 +/- S3 (gallop rhythm)
first 2 years of life
▪ If large—medical treatment for HF
▪ Surgical closure: majority close with patch; repair
by 5-6 months
▪ Device closure if Sx is difficult

ECG: LVH +/- RVH (larger VSD)

 CXR: cardiomegaly, ↑ pulmonary vascularity

ASD Three types Loud S1

1) Ostium secundum (central)—commonest Wide, fixed split S2

2) Primum (low—AV septal defect)—cleft in anterior MV leaflet and septal
leaflet of TV, may present with MR/TR Secundum: usually no Sx in childhood
3) Sinus venosus (high—by SVC) Pink, normal pulses
Difficult to diagnose; more common in adults in 3rd decade Wide +/- fixed splitting S2
Alcohol most common cardiac teratogen Soft ejection systolic murmur at ULSE
Anomalous pulm veins drain into SVC (not LA)→ surgery Older children display exercise intolerance
Usually closed at age 3-5 years (earlier if Sx) ECG: Incomplete RBBB (95%), right axis deviation
Step up of O2 in RA, RV and PA CXR: Normal, ~pulmonary plethora, varying heart
enlargement (RV, RA), ↑ pulm vessel markings,
Risk of paradoxical embolism
oedema
Harsh pansystolic murmur LLSE @ 3rd/4th IC—tricuspid area (where septum is
Tx: Surgery: suture or patch
located)
Interventional catheter—device (majority) amplatzer
occludes ASD

PDA Delayed closure associated with prematurity, perinatal distress, congenital Small defect: Pink, full volume pulses
rubella, and FAS
Large: HF, wide pulse pressure, bounding arterial
▪ In fetal period, shunt is R→L (pulm A to aorta; normal) pulses
▪ In neonatal period, lung resistance ↓ and shunt becomes L→ R with RVH and
failure (abnormal) Harsh systolic or continuous machinery-type murmur
(sys and dias) @ left clavicle—loudest at S2
▪ F> M (2:1)
▪ Normally closes by 3rd month in response to high Pa02 of blood shunting from ECG: Normal (small)
L→R through ductus at birth
▪ CHF symptoms if large ductus in young infant—but often asymptomatic LVH +/- RVH (large PDA)
▪ PO2 and O2 sats step up from RV to PA; PA only
CXR: +/- cardiomegaly, pulm plethora (↑ pulm A and
 ▪ Differential cyanosis: “pink on top, blue on bottom”➔ Congenital rubella pulmonary markings and edema)
Result of reduced arterial 02 saturation in distal aorta compared to aorta
proximal to take off of L subclavian A (unoxy blood distal to subclav A) Treatment

May close spontaneously—1st week of life

Indomethacin or ibuprofen—preterm infants

Surgery—ligation, done in preterm

Interventional catheter—coils or device

Keep open with PGE infusion (TOGA)

Common Stenotic Lesions

Pulmonary Result of valve dysplasia →Thickened pulmonary valves Moderate-severe: signs of RVF: hepatomegaly,
Stenosis peripheral edema, exercise intolerance
↑ systemic pressure and wall stress→ RVH
Mild: Pink, normal pulses
Common defect in Noonan’s syndrome, Turner phenotype, Alagille syndrome
+/- pulmonary systolic ejection click after S1
Arterial saturation normal (unless ASD or VSD are present)
Ejection systolic click/murmur @ULSE
In a neonate with severe PS, R→L shunt via foramen ovale
If severe, S2 widely split
Usually asymptomatic but can present with HF in 1 st month of life if severe
ECG: RAD (RA enlargement), RVH—tall, spiked P waves
Tx: Of moderate/severe valvar PS→ balloon valvuloplasty preferred over surgical
valvotomy; emergent surgery in neonate with critical PS CXR: Normal +/- prominent MPA (post stenotic
dilatation of pulm A)

Aortic Stenosis Thickened aortic valves, or bicuspid aortic valves Usually asymptomatic in children

Supra-valvular stenosis (uncommon) associated with Williams’s syndrome With ↑ severity→ ↓ pulses, ↑heart size, LV apical
thrust
Critical AS: LVF and ↓ CO
Early systolic ejection click at apex of LSB
ECG: Normal (mild); LVH +/- strain (severe)
Systolic ejection murmur upper right 2 nd intercostal—
ST wave changes radiating to neck and left midsternal border with thrill
 CXR: Normal +/- dilated ascending aorta, LVH in suprasternal notch

Treatment: balloon valvuloplasty (majority); surgical valvotomy with valve If severe: no click, ↓ S1 and S2 and maybe a S4
replacement later in life

Coarctation of the Infantile type: preductal (proximal to ductus) Pink

aorta
▪ Generally associated with PDA—RV shunts blood through PDA to aorta distal Reduced or absent femoral pulses
of constriction, causing cyanosis restricted to lower body→Differential
cyanosis (lower body hypoperfusion, acidosis, cardiomegaly, SM along left HT in arteries supplying H & N→ headache, epistaxis
sternal border and loud S2) Soft systolic murmur mid left sternal edge and/or mid
▪ CHF in neonate if severe, or if PDA closes left back
▪ Associated with Turner’s syndrome
▪ Often asymptomatic in older child Radiation to back (also in PS)
▪ Associated with bicuspid aortic valve, berry aneurysms
ECG: RVH in 1st few months of life; LVH if older
Adult type: juxtaductal coarctation
CXR:
▪ If mild, not recognized till later in childhood
Adult type: Symptoms occur after 1st decade
▪ LVH and HT—suspect coarctation in any asymptomatic child with HTN—↑ BP
in vessels proximal to coarct and ↓ BP and pulses distal to constriction ▪ ↑ size of subclavian artery, notching of inferior
▪ Absent/weak femoral and lower pulses, bounding in arms/carotids ribs, poststenotic dilatation of ascending aorta
▪ Radial-femoral delay ‘reverse 3 sign’
▪ If pressure right arm > left arm, suggests coarctation of L subclavian artery
▪ Short systolic murmur along LSB @ 3rd/4th intercostal, radiate to left scapula Infanttype: CM, evidence of CHF, pulm congestion
and neck
▪ Overtime, collateral circulation→rib notching
Treatment:

Neonate: PGE1 infusion to maintain PD then surgery

for native CoA after stabilization

Balloon angioplasty for re-CoA

Acute Rheumatic Most common form of acquired heart disease worldwide Treatment
Fever
▪ Bed rest, close monitoring
 Commonly follows Group A strep infection (within several weeks) ▪ Penicillin PO (erythromycin if allergic) for 10
days
5-15 years old who get strep pharyngitis ▪ Arthralgia: Aspirin if no CHF
Antigens are shared b/w strep components and heart tissue ▪ If carditis/CHF: prednisone for 2-3 weeks
▪ Digoxin, salt restrict, diuretics as needed
Complications: valvular heart disease (M>A>T) ▪ Chorea: phenobarbital

Prevention

Diagnosis: Jones Criteria ▪ Continuous Abx prophylaxis

▪ Single IM benzathine penicillin G every 4
Micro/serology confirmn of recent strep infect + 2 major or 1 major and 2 minor
weeks
Major: Carditis, polyarthritis (migratory), erythema marginatum, chorea,
subcutaneous nodules

Minor: Fever, arthralgia, ↑ acute phase reactants (ESR<CRP), ↑ PR interval

Normal: Features of HF in Infants Collapsing volume= PDA, AR Significant Murmur?

Sinus arrhythmia Poor feeding ▪ Conducted all over precordium

(variation of pulse ▪ Loud
Failure to thrive Inspection:
with respiration) ▪ Thrill ( grade 4-6)
Sweating Precordial bulge= caused by cardiac ▪ ANY diastolic murmur
Third heart sound
enlargement ▪ Accompanied by other abnormal cardiac signs
in mitral area Tachypnoea--↑ effort of breathing
normal in young Ventricular impulse: visible if thin,
children Tachycardia hyperdynamic circulation or LVH
Gallop rhythm Operative scars: mostly sternotomy, LL
Cardiomegaly thoracotomy

Hepatomegaly(normally palpable 1-
2cm below costal margin)

Non-active precordium

Sacral oedema
Infective Endocarditis Congenital Cardiac Defect Associations

▪ 70% streptococcus viridians—those with underlying heart disease,

dental Sx
▪ 20% staph (aureus, epidermidis)—healthy hearts 22q11 syndromes: DiGeorge’s, TOF, truncus arteriosus, aortic arch abnormalities
Velocardiofacial
Presentation: CATCH 22

Down’s Syndrome AV septal defect (endocardial cushion defect—

▪ Prolonged, intermittent fever
ostium primum ASD), vASD, VSD, TOF
▪ Weight loss, fatigue, myalgia, arthralgia
▪ N/V, HA Congenital Rubella PDA, septal defects, pulmonary artery stenosis
▪ New or changing heart murmur
▪ Late skin findings: Vasculitis from Ag-Ab complexes: Osler Turner’s Syndrome Preductal CoA, bicuspid aortic valve
nodes, Janeway lesions, splinter hemorrhages, Roth spots Marfan’s Syndrome MVP, aortic insufficiency, cystic medial necrosis of
▪ Diagnosis: Duke criteria→ 2 major or 1 major +3 minor or 5 minor) aorta, dissecting aortic aneurysms, AR
▪ Need serial + culturesfor definitive diagnosis (10-15% have negative
cultures =poor prognosis Ehlers-Danlos Mitral prolapse, dilated aortic root
▪ ECHO: vegetations Offspring of diabetic mother TOF
▪ Treatment: 4-6 weeks
o S. viridians: penicillin G Kartagener’s Situs invertus, detrocardia
o A. aureus: nafcillin + 5 days gentamicin
Tuberous Sclerosis Cardiac rhabdomyomas (obstructive defects)
o MRSA, s. epidermidis, prosthetic: vancomycin
o HACEK: ceftriaxone Noonan PS, ASD

Friedrich’s ataxia Hypertrophic CM

▪ Prophylactic Abx for: Prematurity PDA

● Congenital heart disease CHARGE association TOF, AVSD, ASD, VSD
● Rheumatic heart lesions
● Prosthetic heart valves Osteogenesis Imperfecta Aortic incompetence
● Surgical shunts
Prior child with CHD 2-4% risk
● Previous endocarditis
● Pacemaker leads TORCH infections, esp rubella PDA, PS
● Resp, GIT, GU and dental surgeries
Maternal DM TGA, coarctation, VSD
Amoxicillin 50mg/kg 1 hour before procedure PKU TOF (25-50%)

Ampicillin PO and gentamicin if GIT or GU procedure Maternal SLE Complete heart block (20-40%)

Allergy: Clindamycin 20mg/kg, vancomycin and gentamicin, macrolide Alcohol ASD, VSD (25-30%)

High risk patients for GI/GU procedures: 2 doses amp + gent IV (30 min Iatrogenic Phenytoin: VSD, ASD, PS, AS, coarctation
before procedure and 6 hours later)
Valproate: Coarctation, HLHS, AS, VSD

Retinoic acid: Aortic arch abnormalities

Gastrointestinal System
Abdominal Distension—five F’s Other signs: Causes of Hepatomegaly Causes of Splenomegaly

1) Fat Dilated veins—liver disease Congenital Infective: Viral, bacterial, protozoal

2) Fluid—ascites, mostly due to
nephrotic syndrome
3) Faeces—constipation
4) Flatus—malabsorption, intestinal
obstruction
5) Fetus—post-puberty
Upper abdomen—gastric dilatation
from pyloric stenosis, hepato/
splenomegaly
Lower abdomen—distended bladder,
masses
Abdominal striae
Operative scars
Peristalsis—from pyloric stenosis,
intestinal obstruction
Wasted buttocks: malabsorption,
celiac disease, malnutrition
Tenderness
Localized: appendicitis (RLQ),
(malaria, leishmaniasis), parasites,
Infection: Infectious mononucleosis, infective endocarditis
hepatitis, malaria, parasitic infection,
Hemolytic anemia
CMV
Sickle cell disease
Hematology:Sickle cell, thalassemia
Malignancy:Leukemia, lymphoma
Malignancy: Leukemia, lymphoma,
neuroblastoma, Wilm’s tumour, Portal HT
hepatoblastoma
Systemic juvenile idiopathic arthritis
Liver:Chronic, active hepatitis, portal (Still’s disease)
HT, polycystic disease
Glycogen and lipid storage disorders,

Abnormal Masses
Wilm’s: renal, sometimes visible, does
not cross midline, low grade pain
Neuroblastoma: irregular and firm,
may cross midline, child very unwell
Fecal mass: mobile, non-tender,
indentable
Intussusception: acutely unwell, mass
may be palpable, RUQ
Fecaliths→ causing constipation
Pyloric Stenosis: ‘Olive’, non-tender
Wilm’s Tumour
▪ Nephroblastoma
▪ 2nd most common malignant
abdominal tumour
▪ Ages 2-5
▪ Bilateral in 7%
▪ Associations: hemihypertrophy,
aniridia, GU anomalies
▪ Asymptomatic abdo mass
▪ Also: abdo discomfort,
haematuria, hypertension
▪ Dx: Abdo CT, CXR for lung
involvement
hepatitis, pyelonephritis
Generalized: mesenteric adenitis,
peritonitis
Silent & immobile abdomen=SERIOUS
Bowel Sounds
Increased: intestinal obstruction,
acute diarrhea, G/E
High pitched/tinkling: obstruction
Reduced/absent: paralytic ileus,
peritonitis
Neuroblastoma
▪ Commonest extra-cranial tumour
▪ From neural crest cells—due to
N-myc
▪ 8% of childhood malignancies
▪ Peak: 2-5 years
▪ Abdominal location; Adrenal
glands or paravertebral in
sympathetic ganglia
▪ Firm, painful, palpable mass in
flank or midline
▪ Blue skin nodules, periorbital
proptosis and periorbital
mucopolysaccharidoses
HF
Constipation Ddx
Usually functional, non-organic
Celiac Disease
Hirschsprung
Tx: bowel clear out, lifestyle
modification, fiber, diet changes
Pheochromocytoma
▪ Catecholamine-secreting tumour
from chromaffin cells
▪ Commonly in adrenal medulla
▪ Children 6-14 years R>>L
▪ >20% bilateral
▪ AD: associated with NFT, MEN 2A,
MEN 2B, tuberous sclerosis,
Sturge Weber and ataxia-
telangiectasia
Presentation
Other:
Dysmorphic facies—Down’s
(duodenal atresia)
Conjunctiva hemorrhage—vomiting
Liver failure—CF
Jaundice/yellow schlera—uremia
Sacral and pedal oedema—
hypoalbuminuria
Diagnosis
▪ ↑ blood and urine
catecholamines and metabolites
▪ CT scan and MIR
Treatment
Can remove but high ri
Pre-operative alpha and beta
blockade and fluid admin
▪ Tx: Surgery, then chemotherapy ecchymosis
(vincristine and dantinomycin) ▪ May calcify or hemorrhage
and radiation ▪ Mets to long bones, skull, orbital,
▪ Nephrectomy BM, LNs, liver, skin
▪ Prognosis: 55-97% 4 year ▪ Stage IV: raccoon eyes, proptosis
▪ Dx: PFA, CT, MRI
▪ ↑ urine homovanillic acid (HVA)
and vanillylmandelic acid (VMA)
▪ Bone scan and BM—look for mets
▪ Tx: Sx, chemotherapy
(cychlophospahmide and
doxorubicin), radiation, BM and
stem cell trasnplant
Abdominal Pain DDx Chronic
Acute:
Recurrent abdominal pain of
1) Acute non-specific abdo pain childhood
2) Acute appendicitis (metronidazole
▪ 10% school-aged children
+ gentamicin)
▪ Peak age 7-8, M=F
3) UTI
▪ Sufficient to interrupt normal
4) Intestinal obstruction causing
activities
intussusception
▪ Pain eventually subsides in hours
5) Midgut malrotation leading to
to 1 day
volvulus
▪ Lasts >3 months
6) Peritonitis
▪ <10% have identifiable organic
7) Inflamed Meckels
cause
8) Pancreatitis (vomiting)
▪ Mild to moderate peri-umbilical
9) Hepatitis (jaundice)
pain, otherwise well
▪ Does not awaken child from sleep
▪ Sometimes occurs with vomiting
Non-GI Causes ▪ ?High achievers, keen to please
URTI Management
▪ Episodic HTN, palpitations,
diaphoresis, HA, abdo pain, pallor,
vomiting, encephalopathy
▪ Hypermetabolic state
▪ Polyuria, polydipsia
▪ Growth failure
▪ Eyes: papilloedema, hemorrhage,
exudate
Irritable bowel syndrome
Constipation
Non-ulcer dyspepsia
Abdominal migraine
Gastritis and peptic ulceration
Inflammatory bowel disease:
diarrhea, weight loss, growth failure,
bloody stool
Malrotation: vomiting and distension
Duodenal ulcer: epigastric pain at
night, haematemesis
Dysmenorrhea
Prolonged F/up—may manifest with
new tumours
Necrotising Enterocolitis
➔inflammation of bowel walls causing
necrosis and bleeding due to ↓
perfusion
Risk Factors
▪ Primarily in preterm infants
▪ Stress→ shock, hypoxia, RDS,
apnea, sepsis, exchange
transfusion, PDA and cyanotic
disease, hyperosmolar feeds,
polycythaemia, indomethacin
▪ Most common reason for
emergent laparotomy in neonate
Signs
▪ Dilated veins
▪ Distended abdomen
▪ Inverted umbilicus
▪ Visible bowel loops
Lower love pneumonia Reassurance Ovarian cysts ▪ Vomiting
▪ Heme +, gross blood on PR
Testicular torsion Symptomatic relief—hot water bottle PID ▪ Jaundice
Spine pathology ▪ ↓ Hb, plt, glucose
▪ See dilated bowel loops and free
Inguinal hernia Psychosocial: bullying, abuse, stress air on AXR (perforation)

Symptoms and signs of Organic cause: Risk of transmural intestinal

necrosis→shock/sepsis→death

Acute Diarrhea Chronic Diarrhea Pentalogy of Cantrell Biliary Atresia

Gastroenteritis
▪ Rotavirus, adenovirus, calcivirus,
Norwalk virus, astrovirus
▪ CASES (bloody diarrhea)
o Campylobacter
o Amoeba (E. histolytica)
o Shigella
o E. Coli
o Salmonella
▪ Yersinia, C. difficule, E. coli
0157:H7
▪ Parasitic: Giardia lamblia,
strongyloides, C. parvun
Systemic infection: UTI, pneumonia,
hepatitis
Abx—do C. difficule toxin screen
Investigations: Stool examination
▪ Culture
▪ Ovum and parasites
▪ Post infectious lactase deficiency (DCOPS) 1/16,000 F>M
▪ Milk/soy intolerance Diaphragmatic defect/hernia
▪ Rare in newborns
▪ Chronic diarrhea of childhood
▪ Celiac Cardiac abnormality ▪ Often presents 1-6 weeks with
neonatal jaundice (resistant to
▪ CF
Omphalocoele phototherapy and
▪ Older: IBS, IBD, Giardia, lactose
transfusions)→pale stools, dark
intolerance, laxative abuse Pericardium malformation/absence
urine, abdo distension, poor
Investigations Sternal cleft weight gain
▪ Blockage of CBD
▪ History and physical ▪ If unrecognized→biliary stasis→
▪ Nutritional assessment
cirrhosis→ liver failure
▪ Stool of pH, reducing substances, ▪ Does not get kernicterus b/c
fat, blood, leukocytes, culture, C.
bilirubin is conjugated
difficule toxin, ova, parasites
▪ FBC and diff, ESR, electrolytes,
glucose, BUN, creatinine
▪ Sweat test, 72 hr fecalBUN,
creatinine
▪ Sweat test, 72 hr fecal fat, H2
breath tests
▪ Endoscopy, Bx, barium studies,
colonoscopy and bx
▪ Enzyme immunoassay for viruses ▪ Hormonal studies—gastrin,
secretin

Celiac Disease Older children and adults Investigations

Genetic predisposition (HLA DQ2)
Presentation
Babies and Young Children:
▪ Present any time after weaning
▪ Peak 9 months to 3 years—likely
permanent intolerance
▪ Diarrhoea (frequent paler stools),
weight loss and failure to thrive
▪ Vomiting, anorexia, irritability,
and constipation are also
common.
▪ Abdominal distension with
eversion of the umbilicus.
▪ Ataxia
▪ Anaemia (folate or iron Anti-gluten: Anti-gliadin IgA and IgG
deficiency)
Anti-self: Anti-tissue transglutaminase
o Fatigue and malaise
IgA and anti-endomysial IgA
▪ Nonspecific symptoms of
abdominal discomfort Gold std: Histology of small bowel
o Diarrhea, steatorrhoea,
malabsorption
▪ Arthralgia
▪ Mouth ulcers and angular
stomatitis
▪ Infertility in some
▪ 85% have asymptomatic
iron/folate deficiency
▪ 15-30% have Vit D deficiency,
10% Vit K deficiency

Vomiting DDx

1) Esohageal aresia and TOF Presentation 2) GERD Diagnosis

Esophageal atresia occurs with
tracheoesophageal fistula in more
than 90%
▪ 50% with VACTERL association
Types:
A: EA w/o TOF
B: Prox EA w/ prox TOF
▪ Identified with first feed
▪ Immediate regurg and aspiration
▪ Frothing, bubbling at mouth
▪ Cough, cyanosis, RD
Diagnosis
▪ Inability to pass NG tube
▪ Insufficient LES tone early in life
History and physical
▪ Symptoms during first few
months, peaks at 4 months Barium esophagram
▪ Often resolves 12-24 months
Upper GI studies
(50%)
Esophageal pH monitoring
Presentation
Endoscopy for erosive esophagitis
▪ Postprandial regurgitation
▪ Esophagitis: arching, irritable,
feeding aversion, FTT
C: Prox EA w/ distal TOF
D: Prox EA w/ both prox/dist TOF
E: H-type TOF w/o EA→presents
chronically and Dx later in life with
chronic respiratory problems
3) Pyloric Stenosis
▪ Hypertrophy of SM causing
obstruction to flow
▪ 1/750; M:F (4:1)
▪ Presents between 3-8 weeks
▪ RF: First born males, FHx, ↓ in
black population
▪ Associated w/ other defects—TOF
Presentation
▪ Non-bilious projectile vomiting
▪ Still hungry after feeds—FTT
▪ Mild-moderate dehydration
▪ Alert but irritable
▪ Constipation
▪ Distended abdomen→ileus
▪ Hematemesis, anemia, icterus
▪ Coffee ground vomit
▪ Hypoventilation
5) Malrotation and volvulus
▪ Incomplete rotation of intestine
during fetal development
▪ X-ray shows tube coiled and air-
distended stomach
▪ H-type: esophagram with contrast
Diagnosis
▪ History and examination alone
▪ FBC, U&E, creatinine
▪ Hypochloremic, hypokalemic
metabolic alkalosis
▪ Increase in urea
▪ Paradoxical aciduria
▪ Test feed → Visible gastric
peristalsis in transpyloric plane
▪ Palpable ‘olive’-firm, mobile, 2cm
in mid-epigastrium
▪ US—elongated pyloric channel
and thickened muscle wall
▪ Barium swallow—string sing,
double railroad track sign
Treatment
▪ First, correct dehydration and
electrolyte imbalance
▪ Pyloromyotomy (Ramstedt)
Diagnosis
▪ Malrotation until proven
▪ Obstructive apnea, stridor
▪ Lower airway disease—cough,
wheezing
4) Duodenal Atresia
▪ Bilious vomiting WITHOUT
abdominal distension of first day
of life
▪ Many with jaundice
▪ 50% are premature—
Polyhydramnios prenatally
▪ Down’s syndrome
▪ Other anomalies: malrotaiton, EA,
CHD, anorecta and renal
anomalies
Diagnosis
▪ X-ray: double bubble with NO
distal bowel gas
▪ X-ray spine and US for other
anomalies
Hirschprung’s Disease
▪ Aganglionic megacolon beginning
at internal anal sphincter—begins
Treatment
▪ Feeding technique—good volume,
thicken feeds, positioning
▪ H2 receptor antagonists—
ranitidine, cimetidine
▪ PPI—omeprazole, lansoprazole
▪ Sx: Nissen fundoplication if
refractory (first line in hiatus
hernia)
Treatment
▪ Nasogastric decompression
▪ IV fluids
▪ Duodenoduodenostomy
Jejunal or Ileal atresia
▪ Most present on first day of
life
▪ Bilious vomiting WITH
abdominal distension
▪ PFA: show air-fluid levels
▪ Contrast studies help
delineate level of obstruction
Diagnosis
▪ AXR: Dilated colon
▪ SMA acts as axis for rotation
▪ LADD bands may extend from
cecum to RUQ to produce
duodenal obstruction
Presentation
▪ In first year of life with acute or
chronic obstruction (75% by one
month)
▪ Bilious vomiting
▪ Recurrent abdominal pain with
vomiting
▪ Acute SBO
Bloody stool DDX
1) Meckel Diverticulum
Remnant of omphalomesenteric duct
(vitelline duct)
▪ Most frequent GI anomaly
▪ Intermittent, painless rectal
bleeding—due to acid-secreting
mucosa
▪ May get anemia
Rules of 2’s
otherwise—may infarct--death
▪ US or contrast radiographic
studies
▪ Barium enema shows malposition
of cecum (not in RLQ, but in RUQ)
▪ Upper GI studies: Will show
malposition of ligament of Trietz
▪ US will show inversion of SMA
and vein and duodenal
obstruction with thick bowel
loops to right of spine
Treatment
Surgery
Investigations
Meckel’s radionuclide scan (Tc-99m
pertechnetate)
—scan for ectopic gastric mucosa
Complications
▪ Intestinal haemorrhage—painless,
50% of all GI lower bleeding in <2
yo; ectopic gastric mucosa
secretes acid→ mucosa
at anorectal line
▪ Most common reason for BO in
neonates
▪ Aperistalsis
▪ More common in males 4X
Presentation
▪ Symptoms at birth—delay in
passage of meconium
▪ Bilious vomiting
▪ Abdo distension
▪ Constipation
▪ Diarrhea
▪ FTT
▪ Enterocolitis if perforates
2) Intussusception
▪ Telescoping of bowel—most
common cause of BO in toddlers
▪ Mostly ileal-colic
▪ Presents 3 months to 6 years
(80% <2 years)
▪ RF:Common after adenovirus,
rotavirus infection, URTI, OM
▪ Associated with HSP
▪ Can also occur with lead point—
Meckel’s, polyp, neurofibroma,
hemangioma, malignancy
▪ Barium enema: reveal constricted
aganglionic segment with dilated
prox segment
▪ No stool in renal vault on PR
▪ Rectal manometry
▪ Rectal Bx (gold std)—full
thickness to access Auerbach’s
plexus
Treatment
▪ Surgery
▪ Temporary colostomy
Can be acquired—Chaga’s disease
Associated with Down’s syndrome
Diagnosis
▪ Tender, sausage shaped mass in
RUQ
▪ Dance’s sign: empty RLQ on
palpation
▪ PFA: shows density in area (RLQ)
▪ Look for perforation—free air
▪ PFA with Contrast shows coiled-
spring appearance
▪ Air enema—diagnostic and
curative
▪ US
2% symptomatic ▪ Intestinal obstruction—occurs Presentation
more in adults—lead point for an
2 feet from ileocecal valve intussusception ▪ Black currant jelly stool—bowel Treatment
drags mesentery with it and
2% of population ▪ Inflammation +/- perforation ▪ Air enema
produces venous obstruction and
mucosal necrosis ▪ 85% reduce with hydrostatic P
Before age of two ▪ If prolonged—shock, peritoneal
▪ Sudden onset of severe
2 types of tissue Treatment paroxysmal colicky abdo pain irritation or perforation=➔ Sx
▪ Emergent reduction—laparotomy
▪ Surgical excision ▪ Progressive weakness
2 inches long —milking
▪ Bilious vomiting
▪ Radiographic reduction under
M:F (2:1 ▪ Lethargy alternating with irritable
▪ Shock with fever fluoroscopy
▪ If reduction not possible—
▪ Decreased stooling
resection and end to end
anastomosis

EXTERNAL SUPPORTS
NG Tube Percutaneous Endoscopic TPN Fluid Management
Gastrostomy (PEG) tube
Absence of suck, palate Unable to take food by mouth Peritoneal drains Maintenance: 0.45% NaCl + 2.5/5% dextrose

Risk of aspiration for long time Pacemakers 40-20-10 ml/hr rule

Suctions of secretions Unable to swallow Scalp cannulas (venous access

for long-term IV access up to 1 yr
Surgical obstruction Provide nutrients and fluid Neonates:
directly to stomach of age) s
Feeding and administering BT shunt Day 1 to Day 7: ↑ from 70 to 120 ml/kg/day
drugs and other oral agents
such as activated charcoal Stoma VP shunt

Vomiting Infants:
NEC
0-10kg: 100ml/kg/day
CI: base of skull fractures, Hirschsprung’s
severe facial fractures
11-20kg: 1000ml + 50ml/kg/day
(especially to the nose), Imperforate anus
obstructed esophagus,
 esophageal varices, and/or Crohn’s and UC in >3yo >20kg: 1500ml +20ml/kg/day
obstructed airway
Malrotation and midgut
volvulus
Fluids + glucose + electrolytes

Na+ : 2-3mmol/kg/day

K+ : 1-2 mmol/kg/day

Dehydration Other Hypernatremic Dehydration Hyponatremic Dehydration

● Hx and calculate losses
● Check urinary output and
electrolytes
3%--mild losses—dry eyes,
mucous membranes
5%--↓urinary output,
tachycardia
Sunken fontanelles ● Na+ >150 ● Na+ < 130
● Too much salt/too little H20 ● Too little salt/too much H2O
Decreased tears
● Greatest loss intracellularly ● Fluid goes from extra to intra-cellular→oedema,
Altered skin turgor ● Correct slowly convulsions
● If child not fitting and >120—correct slowly
Dry tongue ● If unstable/seizing and <120 –correct quickly, ensure
seizure is due to Na+ and not glucose
↓ wet nappies
● Giver hypertonic saline
↑ thirst

10%--hypotension, altered ↑ HR
mental state

Central Nervous System

➔ Concern about motor development usually presents between 6 months and 2 years of age when acquisition is most rapid

Gait Common Causes of Motor Delay ↑ Tone (spasticity) Hypotonia

Toe-walkers: often idiopathic, but
may suggest pyramidal tract
(corticospinal) dysfunction causing
spasticity and tight Achilles tendon,
spinal pathology or neuropathy
▪ Cerebral palsy (2/1000 live births)
▪ Congenital myopathy
▪ Primary muscle disease
▪ Spinal cord lesions (spina bifida)
▪ Global development delay
Ie In adductors and internal rotators
of hip, clonus at ankles→pyramidal
dysfunction (also upgoing plantar
reflex)
Ie. Sitting in a frog-like posture
▪ In pyramidal tract disorders—
trunk and head arch backwards
▪ Central brain disorders
Tight Achilles tendon: myopathy due
to weakness
Broad-based: immature gait,
cerebellar disorder, proximal muscle
weakness around hip girdle
Gower’s maneuver: Duchenne’s
(syndromes)
Muscle Wasting
▪ Cerebral palsy
▪ Meningomyelocele
▪ Muscle disorder
▪ Previous poliomyelitis
Spastic quadriplegia: Scissoring of legs ▪ Type I spinal muscle atrophy→
(excessive adduction of hips), Werdnig-Hoffman; progressive
pronated forearms, fisting, extended ▪ Tay Sach’s
legs ▪ Metachromic Leukodystrophy
▪ Down’s syndrome
▪ Prader-Willi
▪ Hypothyroidism
*Hand dominance not developed until
1-2 years so asymmetry of motor skills ▪ Congenital galactoasemia
▪ Marfan syndrome
is always abnormal

Late walking: >18 months →Underlying hemiplegia

↑ calf bulk: Duchenne’s, myotonic
Hemiplegic gait, dragging foot conditions

Convulsions in Newborns Papilloedema (Increased ICP) Clubbing Absence of Red reflex

Hypoglycemia ● Meningitis -Chronic supportive lung disease -Retinoblastoma

● Brain tumour
Hypocalcaemia -CF -Cataract
● Hydrocephalus
Hypomagnesaemia ● Trauma -Cyanotic congenital heart disease -Corneal clouding
● DKA—cerebral edema
Hypo/hypernatremia -IBD
➔Must check before an LP
Cerebral oedema -Cirrhosis Retinal hemorrhage

Cerebral hemorrhage -Shaken baby syndrome

Meningitis -Head trauma

Septicemia

Tetanus applied to umbilicus

Hydrocephalus Older child Causes

Infants
▪ ↑ head circumference >95th
▪ Bulging anterior fontanel
▪ Distended scalp veins
▪ Broad forehead
▪ “setting sun’ sign
▪ ↑ deep tendon reflexes
▪ Spasticity
▪ Clonus
Neural Tube Defect
▪ ↑ alpha feto protein
Spina Bifida Occulta
▪ Midline defect of vertebral bodies
without protrusion of neural
tissue
▪ Asymptomatic
▪ Overlying lumbosacral defects→
patch of hair, lipoma, dermal
sinus, sacral dimple
Tethering of spinal cord
▪ Filum termininale persists and
anchors the conus below L2
causing abnormal tension
▪ Asymmetric lower extremity
growth
▪ Deformities
▪ Bladder dysfunction—Nocturnal
▪ More subtle
▪ Headache
▪ Papilloedema
▪ Sixth nerve palsy
▪ Irritability
▪ Lethargy
▪ Poor appetite
▪ Vomiting
Treatment for all types of
hydrocephalus—shunting
Meningocele
▪ Meninges herniate through defect
in posterior vertebral arches
▪ Fluctuant midline mass well
covered in skin
▪ May trans illuminate
▪ CT scan of head for possible
hydrocephalus
▪ Surgery if CSF leak or thin cover
Myelomeningocele
▪ Most located lumbosacral area
▪ Low sacral lesion→bowel and
bladder incontinence, perineal
anesthesia w/o motor impairment
▪ Mid-lumbar→flaccid paralylysis
below level of lesion; no deep
tendon reflexes, no response to
touch and pain; urinary dribbling,
relaxed anal sphinter
▪ Tuberous sclerosis→ CNS tubers
calcify and project into ventricular
cavity
Chiari Malformation Dandy Walker Malformation
➔Downward displacement of ▪ Cystic expansion of 4th ventricle
thecerebellar tonsils through ▪ Associated agenesis of posterior
the foramen magnum  cerebellar vermis and corpus
callosum
▪ Sometimes causes non-
communicating  hydrocephalusas Presentation
a result of obstruction of CSF
outflow ▪ ↑ head size
▪ Prominent occiput
▪ Type 1: Most common,
asymptomatic in childhood; least ▪ Long-tract signs
▪ Cerebellar ataxia
severe herniation➔ NO
hydrocephalus; recurrent HA and ▪ Delayed motor development
neck pain, urinary frequency and
progressive spasticity
▪ Type II: Usually accompanied by
a lumbar myelomeningoceleleadi
ng to partial or complete paralysis
below the spinal defect and
symptoms of hindbrain
dysfunction
o Feeding difficulty
o Choking
 enuresis ▪ 80% hydrocephalus o Stridor
▪ Progressive scoliosis ▪ Type II Chiari malformation o Apnea
▪ Diffuse pain ▪ Look for presence of other o Vocal cord paralysis
▪ Motor delay anomalies o Upper extremity spasticity
▪ Associated with midline skin ▪ Head CT for possible
lesion hydrocephalus
▪ Need Sx transection (MRI for ▪ Tx: Ventriculoperitoneal shunt
precise anatomy and correction of defect

● Anencephaly is a result of a
failure of closure of the anterior
neural tube prior to 26 days of
fetal life which ultimately results
in the degeneration of the
forebrain.

Tuberous Sclerosis (AD)
▪ Hallmark: CNS tubers found in
convolutions of cerebral
hemispheres→calcify→
obstructive hydrocephalus
▪ Infancy: infantile spasms, Ash-leaf
spots, calcified tubers
▪ Childhood: generalized seizures,
sebaceous adenoma, Shagreen
patches in lumbosacral area
▪ Dx: skin, retinal, CNS lesions,
seizure control, renal US, ECG,CXR
▪ Complications: Retinal lesions,
50% have rhabdomyoma of the
heart, renal lesions (hamartoma
or polycystic kidneys)
Physiology behind Birth
Defects
A malformation is commonly defined
as a single localized poor formation of
tissue that initiates a chain of
subsequent defects
Eg. Anencephaly
A deformation is a result of extrinsic
mechanical forces on otherwise
normal tissue.
Eg. The characteristic pattern of
abnormalities including the abnormal
facies, pulmonary hypoplasia, and
limb contractures that result from
Disruption results from an extrinsic
insult, which destroys normal tissue
altering the formation of a structure.
Eg. The patterns of findings that
result from amniotic bands and limb
strangulation (a condition in which
torn amniotic tissue strands surround
a portion of the of body, resulting in
deep grooves or amputations)
If the primary defect is a lack of
normal organization of cells into
tissue, a dysplasia will result.
Eg. This is best illustra ted by the
pattern of bonyabnormalities found in

Febrile Seizures
● Fit that is brought on by a rapid
rise in body temperature (>39)
● Occur b/w 6 months and 5 years
● Peak: 14-18 months
● Incidence: 2-5%
● Often FHx of febrile seizures
● 1% chance of developing epilepsy
after a single episode
● Typical: generalized tonic-clonic
seizure, <10-15 min with brief
postictal period
● Atypical seizure: >15 min, more
than one in a day, focal findings
● Risk of epilepsy ↑: Atypical
seizure, if he/she is less than 9
months old, FHx of epilepsy,
abnormal development, or pre-
existing neuro disorder
● If child is <12 months, there is
50% chance that they will have a
2nd one; 30% chance if child is >12
months
prolonged oligohydramnios, either
secondary to renal agenesis (Potter
syndrome) or premature rupture of
membranes (Potter sequence).
Presentation
● Often become unconscious
● Tonic-clonic stiffening
● Eye staring/flickering
● Vomiting
● Drowsiness
● Fecal or urinary incontinence
● Lasts < 5min
Work-up
Determine cause of fever
R/o meningitis
No routine labs
No EEG or neuroimaging
Management
Recovery position
Control fever
If more than 5 min→ ED
achondroplasia where a defect in the
gene encoding fibroblast growth
factor receptor 3 results in abnormal
cartilageformation.
Neonatal Seizures
▪ Due to immaturity of the CNS
▪ Subtle seizures—difficult to
recognize
Causes
▪ Hypoxic ischaemic
encephalophaty—presents w/in
12-14 hours after birth
▪ CNS infection/hemorrhage
▪ Structural abnormality
▪ Blood BCHM abnormalities
▪ IEM
▪ Drug withdrawal
Testing
▪ CBC, electrolytes
▪ HYPO Calcium, magnesium,
phosphorus
▪ Glucose
▪ LP to exclude meningitis or bleed
▪ CT scan in term babies
▪ US in preterm to Dx bleed
▪ Blood and urine culture
▪ Newborn screen for IEM
Five types
1. Focal→ face and extremities
2. Multifocal→ many muscle groups
3. Tonic→ rigid posturing
4. Myoclonic→ brief focal or
generalized jerks of extermities
5. Subtle→ chewing, excess salivation,
apnea, blinking, nystagmus, pedaling
movements
Infantile Spasm
▪ Symmetric contractions of neck,
trunk, extremities due to
↑corticotropin-releasing factor
leading to neuronal hyper
excitability
▪ 4-8 months of age
▪ Characteristic EEG changes:
hypsarrhythmia
▪ Cause: Tuberous sclerosis
▪ Tx: ACTH, prednisone if no
response
 ▪ Tx. Lorazepam, phenobarbital

Renal System

UTI

Pure growth of bacteria in uncontaminated Risk Factors Simple UTI

sample
More common in boys <1 years, girls > 1 years ➔ E. coli
Present in 3 ways: ➔ Responds well to Tx w/in 48 hours
Uncircumcised boys ➔ If < 6 months: Non urgent renal US—6wks
1) Cystitis—infection of bladder and ➔ >6 months: No routine investigations
urethra FHx, genetic factors

VUR Recurrent or atypical UTI in <6 months

Mostly in girls >2 years
Dysuria, frequency, enuresis
2) Acute pyelonephritis
Kidney infection
Fever, vomiting, renal angle
tenderness
3) Asymptomatic bacteruria
Sexual activity ➔ Urgent renal US
➔ MCUG (4-6 wks after UTI so no infection
Bladder catheterization present)
➔ DMSA (4-6 months later; allows scarring
Incomplete bladder emptying (neuropathic bladder as
detection)
in spina bifida, infrequency, constipation, vulvovaginitis)
Recurrent UTI in 6months-3 years
Immunocompromised
➔ Renal US (6 weeks)
White children 2-4X more than black children
➔ DMSA (4-6 months later)

Positive urine culture w/out Atypical UTI

symptoms
Treatment not warranted
In young children (<2): Fever, vomiting, poor
feeding, abdo tenderness, irritability, lethargy,
diarrhea, prolonged jaundice, sepsis
Older children: fever, dysuria, urgency,
frequency, incontinence, macroscopic
Infants—non-specific signs
➔ Urgent US + DMSA
BUT, suspect UTI with new onset bed wetting in
Children >3 years
previously toilet trained child
➔ Atypical: Urgent renal US
➔ Recurrent: US in 6 weeks, DMSA
➔ NO MCUG
hematuria, abdo pain, lethargy, secondary Renal US and MCUG in girls <3 yo, boys of any age,
enuresis children of any age with febrile UTI , recurrent UTI
or with FHx of renal disease, HT, abnormal voiding
Rigors + fever + flank pain ➔PN pattern, poor growth

DMSA: detect acute PN, renal scarring, VUR

Diagnosis Consider contamination if: Organisms

Urinalysis: WCC, U/E, CRP, blood culture, LP in Absence of symptoms E. coli (80%)
febrile child <3months
Recent manipulation of urinary tract Klebsiella
Clean catch urine—MSU (↑ contamination)
Presence of epithelial cells Proteus
Suprapubic aspirate is gold standard (invasive,
painful) Absence of WCC Enterobacter

>1 organism on culture Pseudomonas

Transurethral catheter
Low colony count (<105)

>105 colony forming bacteria/L (pure growth)

Pyuria >100

Treatment Complications Prevention

● B lactam (augmentin) +/- aminoglycoside Sepsis Treat constipation

(gentamicin)
● If <1yo→ IV Abx to prevent PN (48 hours) Meningitis Adequate fluid intake
then 5 days PO Recurrence—10-30% w/in 12 months of primary UTI Ensure complete bladder emptying
● Children <2yo or children with
febrile/recurrent UTI: 10 day Tx, otherwise, Acute PN may lead to renal scars, HT, and ESRD Good toilet hygiene
5-7 days
--Difficult to distinguish b/w cystitis from PN in <2 years Avoid local irritation (bubble bath)
● No diff b/w oral and IV wrt to renal scarring
and fever resolution Renal scarring caused by recurrent febrile UTI, delay in Treat underlying renal tract abnormalities
● Supportive treatment if viral (antipyretics, treatment, dysfunctional elimination, obstruction, VUR
fluids, analgesia)
VUR
▪ Developmental abnormality of VU junction
causes retrograde passage of urine
▪ Most common urologic anomaly in children
(1% of newborns, 30-45% in young children
with UTI)
▪ More common in girls, but higher grades in
boys
▪ Ureter enters trigone straight, rather than
obliquely
▪ Inherited; 30-50% risk if 1st degree relative +
▪ Grade I-II: Non-dilating, no intervention
▪ Grade III-V: Dilating, intrarenal reflux
Investigations
Voiding/Micturating Cystourethrogram if suspect VUR
Renal US if suspect PN
Treatment of VUR
Medical: Prompt Tx of UTI, prevent recurrent UTI, Abx
prophylaxis
Surgical: STING (Teflon injection), ureteric re-
implantation (laporoscopic and open)
Clinical Examination
Record BP and temperature
Abdo examn: tenderness, mass
Suprapubic and costovertebral tenderness
Examn of external genitalia for anatomic
abnormalities, signs of vulvovaginitis, STD
Lower back examn for signs of occult
myelodysplasia (midline pigmentation, lipoma,
vascular lesion, sinus, tuft of hair) which is
associated with neurogenic bladder

Evaluation of other sources of fever

Scarring occurs in 50% of VUR

Nice Guidelines Recurrent UTI Kidney enlargement

Atypical UTI >2 episodes of UTI with acute PN OR Wilm’s tumour

● Atypical organism: non-E. coli
● Tx failure within 48 hours
● Poor urine flow
● Ill patient, septicemic
● ↑ creatinine
● Abdo or bladder mass
1 episode of UTI with upper UTI + >1 episode of UTI
with lower UTI OR
>3 episodes of UTI with lower UTI
Hydronephrosis
Bladder palpaple in urinary retention
Renal bruits: RAS, renal AV malformations

Uremia—presents as yellow sclera if urea >40

Nephrotic Syndrome Nephritic Syndrome Reye’s Syndrome

▪ Massive proteinuria (>3.5g/day) ▪ Inflammatory response involving the glomeruli
▪ Rare, often fatal hepatoencephalopathy
▪ Frothy urine ▪ Hematuria
▪ Fatty liver with deranged LFTs
▪ Hyperlipidemia ▪ Azotemia (↑ urea and creatinine)
▪ Hypoglycemia
▪ Oedema→ pitting, ascites ▪ RBC casts in urine
▪ Coma
▪ Oliguria

Minimal Change Disease
▪ Highly selective for albumin loss
Acute poststreptococcal GN
▪ Post-infectious
▪ Anasarca, periorbital puffiness
▪ Lethargy, poor appetite, weakness,
abdo pain
▪ Responds to CS—prednisone
60mg/m2/day until remission, down
titrate doses
▪ HTN ▪ Associated with viral infection (esp VZV in
▪ Proteinuria and influenza B) that has been treated with
salicylates (aspirin)
▪ Cerebral oedema due to ↑ NH4+
▪ Periorbital swelling
▪ Coke coloured urine
▪ Impetigo/atopic dermatitis, pharyngitis
▪ ↑ ASO titers, ↓ C3, anti DNAase B
▪ Resolves spontaneously

Henoch-Schonlein Purpura Berger’s disease (IgA glomerulonephropathy)

Sickle cell disease

DM

Amyloidosis

Collagen vascular disorder (SLE, RA, PAN)

Endocrinology
Hypothyroidism

Infants Symptoms Signs Diagnosis

Congenital ‘CRETINSIM’
1/3500
1) Primary Congenital
Hypothyroidism—dysgenesis
(wrongly formed)
2) Ectopic—found along path of
Sleepiness
Cold skin and ↓ temperature
Poor feeding (slow to feed)
Constipation
Weight and height normal
Prolonged jaundice
Large tongue with normal mouth (open)
Large fontanels—anterior and posterior
TSH—elevation; unaffected in secondary
and tertiary form
Free T4 (low or normal)
TPO: thyroid Abs
XRay knee—bone age to assess severity
 descent (excision of base of Hoarse cry Umbilical hernia of disease (use wrist >2 yr)
tongue)
3) Enzyme defect (10%) FHx of congenital hypothyroidism Hypotonia Technetium scan with US—position of
(enzyme defects) thyroid and location of iodine
4) HPA axis defects—central Coarse facies
hypopituitarism Maternal history of thyroid disease Guthrie testing: tests for congenital
5) Iodine deficiency or endemic Distended abdomen cause; allows early Dx and Tx; do it by
goiter day 5
Slow Reflexes
6) Iatrogenic: radioiodine
Prognosis
exposure, fetal exposure to Edema
excessive iodine, anti-thyroid If delay early treatment—profound
drugs Mental and developmental retardation
irreversible neurological
development (<6 weeks of age; Apnea--sluggish
goal <2 weeks)

Resemble a Down’s syndrome

-Normal mouth

-Prominent tongue

-Puffiness without epicanthic folds

-Trisomy 21 ↑ risk for hypothyroidism

Older Children Symptoms Signs Treatment

1) Congenital—missed Dx F>>M Myxoedatous facies—blank and pale L-Thyroxineor sodum thyroxine

2) Autoimmune thyroiditis
(Hashimoto’s thyroiditis,
T1DM, Addison’s, T21,
Turners, Klinefelters,
congenital rubella syndrome)
3) Post Radiation—malignancy,
leukemia, post-nuclear
(100ug/m2/day, gradual)
Weight gain Short stature
▪ If too little, can have severe brain
Tiredness—increased sleep Goitre—firm, non-tender
abnormalities
Constipation Obesity rarely ▪ If too much, can increase bone
growth—craniosynostosis (early
Cold intolerance Dry skin fusion of skull bones, ↑ bone age)
4) HPA axis: TSH level low for FT4
5) Sick euthyroid syndrome—
deranged b/c sick child
Slowing of growth, short stature Increased body hair (lanugo)
(late sign)
Pallor
Poor school performance
Vitiligo
Delayed puberty—occ precocious
(↑TSH→ ↑FSH), irregular periods Proximal muscle weakness

Delayed reflexes
History of SUFE (pain in knee, hip,
irregular gait), other AI disease Pubertal delay

Hyperthyroidism

Transient: Mother high TSIg in Symptoms Signs Diagnosis

circulation
Appears gradually Eye—exophthalmos, lid lag, retraction ↑ FT4, FT3
Persistent: Grave’ disease
Nervous affect Tachycardia, palpitations, arrhythmias ↓ TSH
(common)
HTN
▪ Peaks at 11-15 years Poor school performance TPO, TRAB (thyroid receptor Ab)
Tremor—asterixis
▪ F>>M Distractible US, MRI
▪ (+) FHx of AI thyroid disease Brisk tendon reflexes
▪ HLA-B8, and HLA-DR3 ↑appetite, weight loss Technetium scan
Muscle weakness
Diarrhea +/- TRH test (if suspect ectopic)
↑ growth and bone age (↑growth in
TSH suppressed, ↑↑T3 Flushed skin, ↑ sweating childhood but shorter adult)
Heat intolerance Lymphadenopathy
Emotional lability Splenomegaly
Motor hyperactivity Thymic hyperplasia—goitre

Treatment Prognosis Thyroid CA Thyroid Storm

▪ Carbimazole/methimazole ▪ 50% remission with 2 year
S/E: rash, arthralgia, SLE, ▪ 30% of those who remit will
neutropenia (<1%, sore throat,
rash, fever) ▪ Remission rates reduced if:
▪ PTU—hepatotoxic
▪ Radioactive Iodine
▪ Thyroidectomy—transient
hypo-parathyroidism,
hoarseness
Classification
Type 1: Autoimmune, idiopathic
▪ Type 1 >90%
▪ Most common metabolic disease
▪ 50% diagnosed <15 years of age
▪ Bimodel: 5-6; 12-14 years
▪ 3rd most common chronic disorder in
childhood (after asthma, CP)
▪ Rapidly fatal w/o insulin administration
▪ Abrupt onset, short Hx, life-long
▪ Short and long term complications
▪ 12-15% have affected 1st relative
Type 2: Insulin resistance+ relative insulin
deficiency
Type 3: Various, defects of B cell function,
Thyroid papillary CA has good prognosis Acute onset of hyperthermia, severe
duration tachycardia, restlessness
May progress to delirium, coma or death
relapse
Give BB for acute symptoms
Large TG, <12 yo including
thyrotrophin binding inhibitor
Ig,or TSI, non-Caucasion, high
TRAb
Diabetes
● Wide international variation, between ethnic Complications
groups, migrant effects
Short term/ongoing
● Incidence rising, presenting at younger age
● Prone to life threatening DKA Hypoglycemia
● Genetic: HLA DR3/4 (↑ 8-10X)
● 80% will undergo partial remission where there is DKA
transient decrease in insulin requirements (wks-
Sick Days
mths)→ don’t stop insulin
Lipohypertrophy
Psychological
Long-term
Retinopathy, neuropathy, nephropathy, macrovascular
disease
Other:
defects of insulin action, disease of exocrine Impaired growth and development
pancreas
Late pubertal development
Type 4: Gestational
Obesity (excessive exogenous insulin associated with high
energy intake)

AI: Hypothyroidism, hyperthyroidism, Celiac disease,

Addison’s disease

Symptoms Diagnosis/Investigations Aim

▪ Polyuria ▪ Symptoms + hyperglycemia, glycosuria and Frequent BM—4 daily

▪ Polydipsia—lose lots of water and sugar
in urine
▪ Weight loss
▪ Enuresis—urine incontinence
▪ Constipation—especially <5 years old,
can’t drink→dehydrated
▪ Candidiasis
▪ Vomiting, abdominal pain, impaired
consciousness
▪ Lipolysis with ketone body formation
metabolic acidosis, dehydration,
hyperosmolality→untreated→coma
and death
ketonuria
Pre-prandial: 4-8 mmol/L
▪ Random blood sugar >11.1 mmol/L
▪ OGTT rarely required:Fasting blood sugar>7.0 Post-prandial: <10mmol/L
mmol/L or 2 hour post prandial sugar >11
mmol/L Adjust insulin doses accordingly
IFG: 6-7 Liaise with diabetic team 3/12
IGT: 7.8-11.1 ↑monitoring during intercurrent illness (↑ risk of DKA)
▪ Urine—ketones, glucose, C/S Monitor growth (height, weight, BMI)
▪ Blood ketones
Pubertal development
▪ Venous blood gas—metabolic acidosis
▪ Electrolytes Check injection sites
▪ HBA1c
▪ Auto-antibodies: ICA, IAA, GAD Review foot care
▪ Evidence of other AI diseases: TSH, FT4, TPO,
HbA1c <7.5%
TTG, synacthen test, celiac screen
▪ Evidence of infection (makes you insulin Associated conditions: Thyroid, Celiac
resistant; FBC, CRP, C/S of blood, swabs, CXR)
Screen for complications:

Retinopathy

Nephropathy—microalbuminuria

Management
Urgent referral to MDT diabetes team
Admission (home care if not in DKA)
Insulin administration
Regular blood checks—4x daily
Education about disease to all those
involved—parents, teachers
MDT: Dietician, endocrinologist, psychology,
social worker, ophthalmology, chiroprody,
GP, diabetic nurse
Transitional care
Monitor long term growth and
development, pubertal development
Advice on social—EtOH llll
Diet: Healthy eating, # of exchanges (CHO
load), weighing of food
Exercise
Smoking/alcohol/substance misuse→↑ eye
disease, hyperglycemia
Hypoglycemic episode avoidance, detection
Neuropathy
Lipids—IHD risk
Insulin Hypoglycaemia
Rapid-acting: Novorapid, lispro Carry Id bracelet, increase awareness
Short-acting: Actrapid/Humulin S Avoid very low HbA1c
Int-acting: Insultard/Humulin I Tx: Rapid access to CHO and blood sugar monitoring;
glucagon
Long-acting: Glargine/detemir with basal bolus in
older children
Sick Days
Regimen: Take more blood sugars, regular snacks, check for
ketones
1-3 injections/day of rapid or short acting
premixed/self-mixed with intermediate-acting If persistent vomiting bring to hospital
Meter-dose insulin: Rapid or short acting insulin Never omit insulin
before meals with intermediate or long acting insulin
Insulin pump therapy: Novorapid with no background
insulin→ ↑ DKA risk
Management of intercurrent illness

Examination Palpate thyroid and lymph nodes PNS if indicated

▪ General inspection CNS—on auscultation, HS 1 and 2 were present, with Tone

o CHANDLER no added sounds or murmurs, oedema
Power
o External supports
o Dehydration Respiratory—percuss and auscultate back
Reflexes
o Hydration Normal vesicular breath sounds bilaterally with equal
o Nutrition air entry, no crepitation or wheezes Coordination
o Respiratory distress
Sensation—soft touch
o Dysmorphic Abdo—look for lipodystropy (at injection sites), look
▪ Hands for multiple injection sites for erythema and infection Vibration
o Evidence of glucometer pricks (abdomen, arms, thighs, buttocks), hepatomegaly
o Clubbing Proprioception
Abdomen is soft and non- tender without distension,
o Pulse/RR
no organomegaly, no palpaple masses or pulsations.
▪ Would like to take BP, ENT, fundoscopy
Injection sites are visible at x and y that show regular
▪ Face—pallor (anemia), central cyanosis,
rotation of sites. Insulin pump?
candidiasis, assess hydration

DKA Investigations Management

Presentation:
Finger stick glucose, chem 7, ABGs, 1. Admit all patients
▪ Polyuria, polydipsia Ca/Mg/Phos, urine/serum ketones, B 2. ABCs
▪ Weight loss, polyphagia hydroxybutyrate, urinary analysis 3. IV access X 2
▪ Abdo pain, , N/V, (dehydration status), CBC, lactate, lipase, 4. Oxygen and sats monitoring
▪ Weakness, malaise LFTs 5. Fluid resuscitation: NS bolus 10ml/kg bolus over ten min +
▪ Changes in mental state→confusion, maintenance (adjust for dehydration eg 10% deficit x weight
stupor, coma, death (signs of cerebral over 48-72 hours)
oedema) BCHM: a. Catheter—input and output
b. U&E, creatinine, acid + base
Signs: ● Elevated anion gap acidosis (pH <7.3) c. Neurological status
● Ketones in urine/blood, 6. IV insulin: 0.1mg/kg IV push followed by 0.1U/kg/h
▪ Dehydration
● Hyperglycaemia (>11) a. Persistent: continue drip
▪ Smell of ketones
● Hypokalemia (may appear normal)
▪ Lethargy, drowsiness
▪ Tachycardia, hypo/normotensive
▪ Tachypnea, Kussmual breathing,
▪ Delayed cap refill, mottled
▪ Fever
▪ Cerebral oedema: headache, irritable,
confusion, ↓ LOC, occurs between 4-12
hours, fixed pupils➔MANNITOL
● Pseudohyponatremia
Corrected Na+= Measured Na + ((2.4 x
(measured glucose-100))
ECG: peaked T waves (hyperkalemia)
Risk factors: Infection, poor compliance
with insulin, incompetent caregiver
b. Add 5% dextrose once serum glucose <13mmol/l
(250mg/dl)
c. Resolution of AG: Change to SC insulin, overlap them 2-3
hours
7. Potassium: Add 20-30mEq/L IVFs (K+: 3.5-5) or 40 (K+ <3.5)
a. Check cardiac function—ECG –peaked T waves
b. HCO3 if cardiac unstable or pH <7
c. Phosphate: replete if <1
8. Mannitol or hypertonic saline if signs of cerebral oedema
a. Mannitol: 0.25-1 g/kg IV over 20 min
b. Hypertonic saline: 5-10cc/kg over 30 min
9. Electrolyte monitoring: glucose finger stick q1h

Close monitoring for sepsis, infection, neuro deterioration, cerebral

oedema

Type 2 Diabetes
More common with increased obesity
Insulin resistance
● Acanthosis nigricans
● High insulin or c-peptide leves
● Dyslipidemia
● Polycystic ovarian syndrome
More common in ethnic minority groups
MODY: Monogenic maturity onset diabetes of the
young
▪ Single gene disorder causing B cell dysfunction
▪ AD FHx
▪ Usually require less insulin than classic T1DM
▪ Slim build
▪ Endogenous insulin secretion
▪ Not prone to ketoacidosis
▪ No signs of insulin resistance
▪ Mutations found in >80% of patients
Neonatal Diabetes
▪ Very rare (1/400,000)
▪ Insulin requiring hyperglycaemia in first 3-6 months
of life—combo of resistance and infection
▪ May be associated with IUGR
▪ 50% cases transient
▪ Permanency assoc with pancreatic aplasia, genetic
mutations
▪ Predisposes to impaired glucose tolerance and T2DM
in later life

Commonly presents in mid-puberty

Screen if obese, +FHx or signs of insulin

resistance

Life style changes—diet and exercise

Rx: metformin
 ADRENAL DISEASE

Cushings Syndrome Symptoms Diagnosis

▪ Very rare
▪ Obesity Is it true Cushings?
▪ Iatrogenic: steroids
▪ Slow growth
▪ Cushings disease: ACTH secreting ▪ Midnight and 8am cortisol + ACTH
▪ Fatigue
pituitary tumour ▪ Loss of diurnal variation
▪ Emotional lability
▪ Adrenal tumour ▪ Low dose dexamethasone suppression test (0.5mg PO q6 for 2 days—
▪ Ectopic ACTH Signs measure 8am cortisol on day 3)→ failure to suppress to below 50
▪ McCune Albright nmol/l
▪ Bilateral nodular hyperplasia ▪ Cushionoid habitus
▪ Plethora, acne, striae, hirsuitism, HT What is cause?
▪ Height velocity ↓, bone age delay
▪ 9am ACTH—undetectable if adrenal lesion; detectable if pituitary,
ectopic
▪ High dose dexamethasone (2mg PO q6 for 2 days, measure cortisol
9am on day 3)
o Pituitary cause if suppression >50% basal value
o No suppression: primary adrenal problem, ectopic ACTH

CAH

Pigmented scrotum—first presentation

of increased ACTH

INBORN ERRORS OF METABOLISM

Orphan Diseases—7000 diseases Group 1 Group 2 Group 3

▪ Prevalence <1-2/10,000
▪ Majority are AR
▪ 50% enzyme is sufficient to
protect against disease
➔Disturb synthesis or catabolism of
complex molecules
▪ Lysosomal disorders
▪ Peroxisomal
➔Inborn errors of intermediary
metabolism
▪ Aminoacidopathies
▪ Organic acidurias—accumulation of
an acid which does not contain an
➔IEM causing deficiencies in energy
production
▪ Lactic academia
▪ Respiratory chain abnormalities
X-linked: Hunters and Fabry’s
▪ Most common: mitochondrial
respiratory chain disorders
IEM Diagnosis
▪ Peaks in newborn period when
feeding is started, when
weeningon new foods, or at 12
months (↑ energy with
walking), puberty or pregnancy
(↑ E demands), and post-
partum with involution of uterus
Presentation
▪ Developmental delay
▪ Unexplained hypotonia
▪ Visual and hearing problms
▪ Cardiomyophaty
▪ ↑liver transaminases and CK
▪ Renal tubular defects
( phosphate leak)
▪ Contractures, abdo hernias
▪ Cyclical vomiting = UCD crisis
▪ Extreme food fadism
LYSOSOMAL STORAGE DISORDERS
▪ >50 genetic disorders
▪ Cause progressive accumulation
▪ Carbohydrate deficient
glycoprotein syndrome
Clues
▪ Consanguinity
▪ FHx off SIDs, recurrent
spontaneous abortions, acute
life threatening events
▪ + FHx
▪ Acute fatty liver of pregnancy
(due to placental transfer of
acycarnitine from fetus)
▪ HEELP
▪ Unexplained developmental
delay
▪ Multiple endocrine deficiencies
▪ Self-injurious (Lysch Nyhan)
Treatment
More rapid diagnostics
amino group
When? Investigation
▪ Children of any age with ▪ FBC
unexplained encephalopathy ▪ Urea, Na, K, Ca
(dysmorphic features) ▪ Venous blood gases
▪ Progressive neuro disease ▪ Lactate
▪ Acid/base imbalance or ▪ Glucose
hypoglycaemia ▪ Renal/liver/bone profile
▪ Lactic acidosis ▪ Calculate anion gap
▪ Unexplained multi organ disease ▪ Ammonia (if metabolic alkalosis
suspect UCD)
▪ CK
Examination Clues ▪ TFT
▪ Urate
▪ Dysmorphology (Hunters, Hurlers) ▪ Serum amino acids
▪ Odour (MSUD, PKU) ▪ Urine: glycosaminoglycan, aas,
▪ Organomegaly (Mt disease, GSD, organic acids
LSP)
▪ Opthalmology (cherry red macule,
pigment retinopathy)
▪ Cardiomyopathy (Mt and FAOD)
▪ Marked scoliosis (skeletal muscle
weakness in Mt disease)
▪ Peripheral neuropathy
MUCOPOLYSACCHARIDOSES Hurlers (MPS 1)
Eyes: corneal clouding, glaucoma, ▪ 1/26 000
▪ Deficient in iduronate sulfatase
 of intermediate metabolic
products such as sphingolipids,
sulphatides
▪ Usually display progressive
disease patterns with wide
spectrum of symptoms, signs,
and severity
Phenoketonuria
▪ First treatable genetic disease—
Phe restriction
▪ 1/12000 worldwide
▪ Deficiency of phenylalanine
hydroxylase
▪ Also may occur with deficiency
in BH4
▪ Tandem mass spec and Guthrie
screen
▪ Maternal PKU is teratogenic,
thus monitor pregnancy
(>1200umol)
o Fetal damage, LBW,
microcephaly,
dysmorphic features,
slow postnatal growth,
developmental
impairment
▪ Various mutations
Newborn screening retinal degeneration ▪ Obstructed airway
▪ Microcephaly
New small molecule treatments eg Skin: thick, coarse facies ▪ Ortho and heart problems
tetrathiomolybdate (Wilson disease),
Heart: Failure, valvular lesions
NTBC (alkapturia)
Haematopoeitic stem cell transplant Developmental regression Bone marrow transplantation in
children <2 years with IQ >70
Skeletal: Thick skull, broad ribs, claw
Enzyme replacement therapy—
infusions hand, thoracic kyphosis, lumbar lordosis Cord blood transplant
Other: hepatomegaly, carpal tunnel,
conductive deafness, umbilical and
inguinal hernia
Pathophysiology (N=60-180umol/l) Failed screening NEWBORN SCREENING
▪ PKU high as 2000→transported Inadequate milk Blood spot tested on Guthrie card 3-5
to brain→inhibits transport of days afterbirth
IV feeding
other aa’s across BBB
▪ PKU
▪ Inhibition of protein synthesis Prematurity
▪ Congenital hypothyroidism
and myelination
(1/4000)
▪ Inhibits synthesis of DA, 5-HT, NE Early discharge
▪ MSUD
Failure of card to reach lab/receive ▪ Galactosemia
reports ▪ Homocystinuria
Presentation ▪ Congenital toxoplasmosis
Abx
Mental retardation ▪ CF (will be added)
▪ MCAT (“)
Encephalopathy ▪ Glutaric aciduria (“)
Management
Seizure
Aim for <400umol/l
Mousy odour
Diet for life
Fair hair and skin
In newborn:
 Normal range: 60-180 umol/l
Therapeutic range: 120-400 umol/l
▪ If keep levels below 500 can
have normal outcome
Adolescents and adults accept <700
Aim for pregnant: 120-360 umol/l
Classical Galactosaemia ▪ Jaundice→ hyperbilirubinemia—
Disorder of breakdown of galactaose mixed
▪ Hepatomegaly
Picked up by day 6 ▪ Hypotonia
▪ Galactosuria
1/19, 000
▪ Proteinuria
1/480 in traveller community ▪ Death by sepsis
▪ Restrict galactose in diet
Presentation
▪ Cataracts
▪ Variable IQ
▪ Chronic cirrhosis
▪ Small stature
▪ Hypergonadotrophic
hypogonadism
▪ Language speech problems
Synthetic diet
Therapy
PAL—phenylalanine ammonium lyase
BH4 cofactor replacement may
stimulate enzyme production
Homocystinuria
▪ Cystathionine B synthase deficiency
▪ Iridodenesis/dislocation of lens
▪ Mental retardation
▪ Bone abnormalities
▪ Thromboses
▪ Phenotypically like Marfan’s
Treatment
Restrict methionine
High dose B6, B12, folic acid
Betaine (cystadane)
Hypoglycemia
▪ Nonketotic hypoglycemia
▪ Hyperinsulinism
▪ Fatty acid oxidation
disorder
Purpura
● Purple spots/nodules not
disappearing on pressure
● Petechiae (<3mm)
● Ecchymoses (>1cm)
● Purpura is in between 0.3 – 1cm
2 questions
1) Is the child ill?
2) What is the platelet count?
If ill and platelets ↓:
▪ Meningococcaemia
(penicillin)
▪ Leukemia
▪ DIC (blood film and WCC)
▪ HUS
Ketotic hypoglycemia
▪ Young child between the ages of
10 months and 4 years
▪ Episodes nearly always in the
morning after an overnight fast
▪ Neuroglycopenic and ketotic Sx
▪ NG: lethargy and malaise,
unresponsiveness or seizures.
▪ Ketotic: anorexia, abdominal
discomfort, and nausea,
vomiting
HEMATOLOGY
If ill and platelet normal or ↑:
▪ Viruses (measles; enterovirus) Purpura
▪ Vasculitis (Kawasaki)
▪ SBE
If well and platelet count normal:
▪ With no Hx of trauma: HSP
If well and platelet count ↓:
▪ Idiopathic thrombocytopenic
purpura
Rarely Wiskott-Aldrich syndrome or
aplastic anemia
▪
Immune Thrombocytopenic
▪ Most common cause of
thrombocytopenia in childhood
▪ Auto antibodies against platelet
surface
Presentation
▪ Peak: 2-6 years; M=F
▪ May follow viral infection 1-4
weeks (CMV, EBV, parvovirus B19)
▪ Gradual resolution over 3 months
▪ Acute bruising, purpura, and
petechiae
▪ Bleeding from gums, nose, or
rectum
▪ <1% intracranial hemorrhage
▪ 10-20% develop chronic ITP
Tests:
▪ ↓ platelets <20,000/ml
▪ Lymphocytosis
▪ Other cell lines normal
▪ BM: normal/↑ megakaryocytes
Treatment
▪ Avoid contact sports
▪ IVIg for 1-2 days
▪ If inadequate response→
prednisone
▪ Rituximab and anti-D to reduce
need for splenectomy
Splenectomy for older children with
more severe disease
Henoch-Schonlein Purpura Presentation
(HSP)
▪ Fever and fatigue
▪ Most common childhood systemic
▪ Symmetrical palpable purpura
vasculitis
(maculopapular) over buttocks,
▪ IgA mediated Vasculitis of small
scrotum, extensor surfaces,
vessels→ IgA and C3 in skin,
ankles +/- urticarial may progress
glomeruli and GIT
to petechial and purpura
▪ Non-thrombocytopenic purpura
▪ Arthritis/arthralgia—knees and
▪ Ages 3-10 M>F: 2:1
ankles, periarticular swelling
▪ Peaks during winter months
▪ GI: abdominal pain, melaena,
▪ Preceded by URTI
intussusception, diarhhea,
▪ Recovery within 2 months
haematemesis
▪ Recurrence in 35%
▪ Scrotal oedema
▪ Type III hypersensitivity
▪ Renal: GN, nephrotic syndrome,
haematuria
▪ Hepatosplenomegaly,
lymphadenopathy
Lab:
↑ ESR, WBCs and often platelets
↑ IgA and IgM
Anemia
Urine: albumin, RBC, WBC, casts
TX for HSP nephritis:
Symptomatic treatment—self-limited
GIT: IV or PO high dose corticosteroids
Cyclophosphamide
Complications:
Renal insufficiency/failure
Sturge-Weber
▪ Sporadic congenital vascular
disorder affecting capillaries
▪ Port-wine stain (facial naevus) in
dist of CN V (V1 always involved)
▪ Leptomeningeal angiomatosis
(intracerebral AVM)
▪ Mental retardation
▪ Seizures—contralateral to naevus
▪ Hemiplegia
▪ Skull radio-opacity
▪ Tram-track calcifications on skull
radiograph—intracranial
calcifications
▪ Glaucoma in ipsilateral eye
▪ Dx: Skull X-ray shows occipital-
parietal calcification; intraocular
pressure reading; CT scan to show
unilateral cortical atrophy and
hydrocephalus ex vacua

Massive GI bleeds with perforation

Scrotal oedema

Testicular torsion

Ileus

Heriditary hemorrhagic telegectasia

Hemangiomas
Location, size important

Propranolol is one treatment

Kasabach-Merritt

SYNDROMES
● When a particular set of multiple anomalies occurs repeatedly in a consistent pattern
● Usually associated with moderate to severe learning difficulties
● Syndromes are typically a result of a single genetic abnormality (Down’s)
● Associations are non-random collections of birth defects, which may have resulted from a number ofgenetic factors (VACTERL)

Syndrome Phenotypic Appearance Other

Noonan’s Affects M=F Short webbed neck with trident hair line Occasional mild learning difficulties
syndrome Similar phenotype to Turner’s Pectus excavatum Congenital heart disease—PS, ASD—right
sided lesions
AD Short stature
Pulmonary valvular stenosis
Low posterior hairline
Cryptoorchidism
Shield chest
Bleeding diathesis
Cubitus valgus

Small penis

William’s Usually sporadic Distinctive elfin facies Transient neonatal hypercalcemia

syndrome Congenital microdeletion of long arm ▪ Prominent lips with open mouth CHD—supravalvular aortic stenosis
of c’some 7 ▪ Depressed nasal bridge
Mild to moderate mental retardation
▪ Peri-orbital fullness
Mild pre and postnatal growth ▪ Blue eyes, stellate pattern of eyebrows
deficiency Well-developed verbal skills
▪ Pointed ears
Cheerful disposition
 Short stature Extreme friendliness with strangers

Hoarse voice Renal artery stenosis wth HTN

Hypersensitivity to sound Joint limitations

Prader-Willi Deletion of paternal allele of c’some Failure to thrive in infancy Hypotonia

syndrome 15
Short stature Neonatal feeding difficulties

Small hands and feet Hypogonadism

Obesity in later childhood Developmental delay

Hyperphagia→T2DM Learning difficulties

Angelman Deletion of maternal allele of c’some Microbrachycephaly Severe mental retardation

15
Large mouth with tongue protrusion Seizures

Large, jutting jaw Epilepsy

Ataxia and jerky arm movements Ataxia—poor motor and language

Happy puppet

Inappropriate laughter

Trisomy 21 Meoitic Non-dysjunction (94%) Flat nasal bridge Moderate to severe MR

Down’s Robertsonian translocation (5%) Flat, round facies Developmental delay
Syndrome
Mosaicism (1%) Upslanting palpebral fissures Vision and hearing impairment

Maternal age: 1/1500 in <20; 1/650 Epicanthal folds Hypotonia @ birth

<30; 1/200 >35; 1/25 in >45
Brushfield spots in iris Duodenal, esophageal and anal atresia

Dysplastic, small ears Hirschsprung’s disease

Triple screen: ↑ BHCG, inhibin A, ↓
Flat occiput and 3rd fontanelle Omphalocoele
AFP, estriol
 US: ↑ nuchal translucency Braciocephaly Constipation

1/700 Small mouth and protruding tongue Hypo/hyperthyroidism, IDDM

Commonest cause of mental Short neck, excess nuchal skin Sleep apnea
retardation
Short stature Early onset Alzheimer’s

Simian crease, fifth inturning finger ALL

Saddle toe CHD—AVSD, patent ductus, VSD, septum

primum ASD
Joint hyperflexibility
Infertility in males

Trisomy 13 1/8000 Small size and LBW Severe mental retardation

Edward’s F>M: 3:1 Microcephaly Hypertonia
Syndrome
Death usually within one year Micrognathia and small mouth Polycystic kidney

44% die in 1st month Microopthalmia, hypertelorism CHD—VSD, ASD, PDA

10% survive past one year Low set dysplastic ears Omphalocoele

IUGR or polyhydramnios Prominent occiput

Overlapping digits, clenched fists

Rocker bottom feet

Short sternum, short stature

Trisomy 18 1/15,000 Microcephaly Polycystic kidney

Patau’s Maternal age Microopthalmia CHD—VSD, ASD, PDA
Syndrome
Low set ears Midline anomalies—pituitary

Scalp defect Pyloric stenosis

 Holoproencephaly—yclops, absent nose, deafness Omphalocoele, umbilical hernia

Cleft palate

Polydactyly

Rocker bottom feet

Fragile X 1/4000 males Macrocephaly Moderate-severe LD

2nd most common cause of learning Macroorchidism Mitral valve prolapse

disability after trisomy 21
Long face Autism
Trinucleotide repeat CCG in FMR1
Large everted ears Hyperactivity
X-linked recessive
Large jaw Joint laxity

Broad forehead Scoliosis

Turner’s 1/4000 Short stature Streak ovaries—infertility

syndrome 45XO—most common Webbed neck Preductal coarctation

Mosaic: 46 XX with P deletion or Cystic hygroma Renal anomalies—horseshoe kidney

45XO/46XX
Low posterior hairline Normal intelligence

Shield-shaped chest

Wide-spaced nipples 1)ECHO/ECG to screen for heart abnorm

Oedema of hands and feet 2) GH therapy for short stature

Wide carrying angle 3) Estrogen replacement therapy during

puberty

Klinefelters 47XXY Tall stature Hypogonadism—infertility

Small testes Intelligence normal or ↓

 Gynaecomastia in adolescence

Beckwith- Usually sporadic Macrosomia Umbilical defect

Wiedemann IGF-2 disrupted at 11p15.5 Macroglossia—may need partial glossectomy Visceromegaly

Gigantism Pancreatic B cell hyperplasia➔ hypoglycemia

Linear fissures in lobule of external ear Fetal adrenocortical cytomegaly

Large kidneys with renal medullary dysplasia

Obtain US and serum AFP every 6 months through Neonatal polycythaemia

6 years to look for Wilm’s tumour and
hepatoblastoma Diastasis recti

Omphalocoele

Hemihypertrophy

Increased risk of abdominal tumours

Pierre Robin Isolated finding or associated with Mandibular hypoplasia (in utero)
Robin some syndromes/malformations
Posteriorly placed tongue
Sequence FAS
Cleft palate
Edwards
Micrognathia

Glossoptosis

Cleft soft palate

Achondroplasi AD Short statute that is disproportionate Normal intelligence

a 90% new gene mutation Megalocephaly Late childhood obesity

Older paternal age Small foramen magnum (may have hydrocephalus) Small Eustachian tube—otitis media and
hearing loss
FGFR 3 mutation Short cranial base
 Prominent forehead

Lumbar lordosis

CHARGE Coloboma VACTERL Vertebral abnormalities

Heart defects (TOF, PDA etx) Anal abnormalities

Atresia Chonae Cardiac

Retardation of growth and development TE fistula

Genital hypoplasia in males Esophageal atresia

Ear anomalies and/or deafness Radial limb/Renal Abnormalities

Lumbar and limb abnormalities

Miscellaneous
Non- ▪ History inconsistent with physical findings, or history not Shaken Baby Syndrome
Accidental reproducible ▪ Violent shaking of infant resulting in intracranial hemorrhages,
▪ Delay in seeking medical attention retinal hemorrhages, and fractures (posterior rib #)
Injury
▪ Physical findings not consistent with any underlying medical ▪ Dx confirmed by head CT or MRI, ophthalmologic exam, skeletal
condition survey/bone scan
▪ Injuries of varied ages, recurrent, or multiple injuries ▪ Head trauma is leading cause of death in child maltreatment
▪ Distinctive marks: belt buckle, cigarette burns, hand prints
▪ Bruises on face, abdomen, buttocks, genitalia, upper back,
posterior rib fractures, immersion burns
▪ Altered mental status: head injury, poisoning
▪ Physical

Fetal Alcohol Fetal Alcohol Syndrome Fetal Alcohol Spectrum Disorder

Spectrum Prevalence: 1/300 Prevalence: 1/200
Disorder
One of the most common causes of mental retardation in the ▪ Child born to a mother who was known to be drinking heavily
 world during pregnancy
▪ Child has some but not all of physical characteristics of FAS
Criteria for Dx: ▪ Often missed Dx as features are subtle
● Growth deficiency—low BW and/or length at birth that ▪ Most children with FASD have normal stature and do not have
continues through childhood microcephaly, by may show milder forms of the facial features
● Abnormal craniofacial features—microcephaly, short present in FAS
palpebral fissures, long smooth philtrum, thin upper lip,
maxillary hypoplasia, short nose
● CNS dysfunction—microcephaly and/or neurobehavioural
dysfunction (hyperactivity, fine motor problems, attention
deficits, learning disabilities, cognitive disabilities)
● Strong evidence of maternal drinking during pregnancy

Other: cardiac (VSD>ASD), and renal, hypospasdias, joint

abnormalities

Leukemia Brain tumour Supratentorial

➔Most common childhood cancer
▪ ALL accounts for 80%, AML for 15%
▪ Acute lymphoblastic leukemia
o 2-6 years old
o 80% cure
o Bone and joint pain of lower extremities
—new limp
o S&S of BM failure—petechia, bruising,
purpura, pallor, epistaxis, mucous
membrane bleeding,
o Lymphadenopathy,
hepatosplenomegaly, joint swelling,
mediastinal mass
o ↓ Hb, plts, WCC (↑ WCC has worst
prognosis)
➔2nd most common childhood CA) ▪ 1/3 of tumours
▪ Cranoiopharyngioma (benign)
➔Most common solid tumour (25%) o 7-10% of all brain tumours
o Minimally invasive
▪ Usually <7 years
▪ Largest number of cancer deaths: Mortality 45% o May present with short stature,
bitemporal hemianopia and signs
of panhypopituitarism
▪ CT scan shows calcification of sella turcica
Infratentorial (2/3)
▪ Optic Nerve Glioma
o Most frequent tumour of the optic
▪ Benign astrocytoma—most common
o Juvenile pilocytic astrocytoma nerv
o Unilateral visual loss
o Located in cerebellum—causes new-onset
seizure, wide based gait (ataxia) o Eye deviation and optic atrophy
o Strabismus, nyastagus
▪ Malignant astrocytoma
o Glioblastoma multiforme—much worst o Increased incidence in
 o Chemotherapy: vincristine,
daunorubicin, predinisone→tumor lysis
syndrome
o CNS Tx with methotrexate
o Relapse 15-20%
o ↑ ICP or isolated CNN palsies, testicular
relapse, pneumocystis pneumonia and
other infections
▪ o Causes motor weakness, CN defects,
prognosis—more rare in children neurofibratomatosis
▪ Medulloblastoma—2nd most common
o Located in the posterior fossa at the midline
cerebellar vermis
o Can cause 4th ventricular obstruction and
hydrocephalus
o Highly malignant
▪ Brain stem tumour—third most common
cerebellar defects, signs of ↑ ICP,
personality change