GENERAL EXAM

ADVICE
oStudy schedule
oMake a checklist of topics for each
specialty based on the objectives
oPay attention to what the question
wants: “diagnostic test” is different
from “next investigation”
oIf you don’t know the answer, it is not only you
so keep going
oSleep well
TOPICS
• Neonatology

• Growth & Development

• Genetics & Metabolism

NEONATOLOGY
Terminology
• Term baby: born from 37 weeks to 41+6 week
• Early term: 37-38 weeks
• Full term 39-41 weeks
• Preterm: born before 37 weeks, divided:
• Extremely preterm: <28 weeks
• Very preterm: 28-31+6 weeks
• Moderate preterm: 32-33+6 weeks
• Late preterm: 34-36+6 weeks

• Post term: born at 42 weeks or more

Terminology
• Low birth weight (LBW): BW <2.5 kg
• Very low birth weight (VLBW): BW <1.5kg
• Extremely low birth weight (ELBW): BW <1kg

• Appropriate for gestational age (AGA): weight corresponds to

gestational age.
• Small for gestational age (SGA): BW below the expected for
gestational age.
How to calculate corrected age?
• 9 months old was extremely preterm (28 weeks of gestation).
Q: calculate the corrected gestational age.

9 months: chronological age

Formula:
*40 weeks (weeks at term) – 28 (gestation at birth) = 12 weeks preterm

*corrected age: 36 weeks (9 months) – 12 weeks = 24 weeks (6

months)
• 9 months old infant ex-preterm (CGA: 6 months)

• Use corrected age until:

• 1 year (32-36+6 weeks)
• 2 years (<32 weeks)

• For vaccination use chronological age

• For development & growth use corrected age
• Neonatal Jaundice
• Hypoxic Ischemic Encephalopathy (HIE)
• Complications of prematurity
• Neonatal sepsis
• Congenital infections (TORCH)
Neonatal Jaundice
• It’s a sign not Dx

• Jaundice in the 1st 24 hours is always pathological (and for exams is

always hematological)

• Divided into: conjugated on unconjugated (direct or indirect)

Jaundice
• Hematological causes:
• G6PD D
• ABO incombatibility
• Rh incombatibility (rare)
• Others: spherocytosis, elliptocytosis

• Kernicterus
• Jaundice from D2-D14:
• Hematological causes
• Physiological jaundice (very common)
• Breast milk jaundice
• Dehydration
• Sepsis

• Syndromes: Gilbert syndrome, Crigler Najjar syndrome

• Management of unconjugated hyperbilirubinemia:
• Phototherapy
• IvIg (only if DCT +ve)
• Exchange transfusion
• Conjugated hyperbilirubinemia (Always pathological) :
• Conjugated 20% or more of total bilirubin.
• Suspect after day 14 of life (in term) and day 21 of life (in preterm)
• Management of the cause
• Biliary atresia (pale stool, dark urine, deranged LFT)
• Other causes:
• Hepatitis
• TPN-cholestasis
• Congenital infections (TORCH)
• CF
When to repeat Bilirubin?
• Single phototherapy: 18-24 hours

• Double phototherapy: 8-12 hours

• Intensive (capsule) phototherapy: 4-6 hours

• A newly delivered newborn baby admitted to the neonatal care unit with
respiratoy distress; physical examination revealed clubfeet, characteristic
compressed facies, low-set ears, and diminished chest wall size; abdominal
ultrasound reveals bilateral renal agenesis; ultrasound during pregnancy show
amniotic fluid index ≤2 cm. Of the following, the MOST likely cause of death in
this condition is
A. sepsis
B. asphyxia
C. heart failure
D. renal insufficiency
E. respiratory failure
• The major cause of neonatal mortality in preterm infant is
A. birth trauma
B. birth asphyxia
C. respiratory distress syndrome
D. meconium aspiration pneumonia
E. persistent pulmonary hypertension
• The major cause of neonatal mortality in fullterm infant is
A. birth asphyxia
B. chronic lung disease
C. necrotizing enterocolitis
D. intraventricular hemorrhage
E. respiratory distress syndrome
Others:
• Birth trauma
• Congenital anomalies
• Infections
• Meconium aspiration
• PPHTN
• All the following are problems of small for gestational age infants
EXCEPT
A. anemia
B. hypothermia
C. hypoglycemia
D. perinatal asphyxia
E. pulmonary hemorrhage
• You are on call at the delivery room, a newly delivered newborn
presented to you with pallor, irregular respiration, and bradycardia; after
initial resuscitation (warming, drying, and stimulation), heart rate still less
than 100/min. Of the following, the NEXT step in management is
A. intravenous naloxone
B. intravenous epinephrine
C. endotracheal intubation
D. external cardiac massage
E. positive pressure ventilation with 100% O2
• A 2-hour-old newborn admitted to neonatal care unit with respiratory
distress, heart sounds heard mainly on the right side, and scaphoid
abdomen; O2 saturation at room air 68%; chest radiograph was
orderd. Of the following, the BEST way of O2 administration is by
A. CPAP
B. head box
C. face mask
D. nasal cannula
E. endotracheal intubation
• The characteristic radiographic finding of bronchopulmonary
dysplasia (BPD) is
A. air bronchograms
B. spongelike appearance
C. fluid in the lung fissures
D. reticulogranular pattern
E. increased anteroposterior diameter
• A 7-month-old infant presented with recurrent seizures; on
examination there are hydrocephalus and chorioretinitis; skull film
revealed intracerebral calcifications. Of the following, the MOST likely
diagnosis is
A. syphilis
B. HSV infection
C. CMV infection
D. congenital rubella
E. congenital toxoplasmosis
• A 9-month-old infant presents with history of early-onset jaundice and
growth retardation; on examination there are cataracts,
hepatosplenomegaly, and purpuric skin lesions; CBC revealed
thrombocytopenia; echo study showed peripheral pulmonary artery
stenosis. Of the following, the MOST likely diagnosis is
A. congenital syphilis
B. HSV infection
C. CMV infection
D. congenital rubella
E. congenital toxoplasmosis
• A full-term infant presents with history of low birth weight, microcephaly,
hepatosplenomegaly, and chorioretinitis; investigations reveals
thrombocytopenia and abnormal liver enzymes; skull films revealed
intracranial calcifications. Of the following, the MOST likely diagnosis is
A. syphilis
B. HSV infection
C. CMV infection
D. congenital rubella
E. congenital toxoplasmosis
Extreme Preterm 28 weeker
 Newborn with BW 4 kg
-Describe
-Risk factors (breech presentation,
macrosomic, shoulder dystocia)

Waiter-tip -Nerve roots involved (C5-C6)

deformity
-Anything to monitor? Phrenic nerve
palsy---elevated diaphragm
Newborn with assisted vaccum delivery
Macrosomic newborn with difficult birth
Ex preterm with feeding intolerance
Necrotizing enterocolitis
• Presentation: mainly in preterm (but not necessary)
• Features: feeding intolerance, abdominal distension, discoloration of
abdominal wall, septic behavior
• AXR findings: Distended bowel loops, intraluminal air (pneumatosis
intestinalis) , air in portal tract, air under diaphragm
• Management:
• NPO (start TPN)
• Mechanical ventilation
• NGT and aspirate abdominal contents
• start antibiotics (broad spectrum, cover both aerobic and anaerobic)
• surgical review
HOW TO PREVENT NEC?
• Feeding protocols in preterm babies
• Avoid cows milk
• Probiotics may offer potential benefit
Growth & Development
Growth Vs. Development
• Growth: increase in physical size (quantitative)

• Development: progressive increase in skill and capacity of function

(qualitative), measured by observation

• Use corrected gestational age for growth & development

Growth

Physical ●

●
Weight
Height
Head circumference

growth ●
Chest circumference

Physiologi
cal growth
●
Vital signs
Age-related development periods

Infants (4
Neonates Toddlers Preschoo School Adolesce
weeks -
(<4 (1-3 l (4-6 age (6-11 nts (12-
12
weeks) years) years) years) 19 years)
months)
Neonates
Birthwieght 2.5 kg-3.5 kg

Loose 5-10% of birthweight by 5-7 days

Regain by 10-14 days of life (3wk in premature)

Length & HC
• Boys average length = 50 cm
• Girls average length = 49 cm

HEAD CIRCUMFERENCE
33-35 cm
Head is ¼ total body length
Infants
• Birth – 3 months: 1kg/month
• 3-6 months: ½ kg/month
• 6-12 months: ¼ kg/month

Double birth weight by 4-5 months

Triple birth weight by 10-12 months
Expected weight for infants: age (months) + 9/2
Example: 6 months expected weight: 7.5 kg
• Posterior fontanel closes by 6-8 months
• Anterior fontanel closes by 12-18 months
Eruption of primary teeth
Formula to calculate normal weight: (1-6 years)

Expected weight (kg)= Age (years) X 2 +8

(this formula for 1-6 years)
Example 4 years old expected weight: 16 kg
Gross – Motor:
At 15 months, the toddler can:
• Walk alone.
• Creep upstairs.
• Hold a cup with all fingers grasped around it.

At 18 months:
• Hold cup with both hands.
• Transfer objects hand-to hand.
At 24 months:

• Go up and down stairs alone with two feet on each

step.
• Hold a cup with one hand.
• Remove most of own clothes.
• Drink well from a small glass held in one hand.
At 30 months:

• Jump with both feet.

• Jump from chair or step.
• Walk up and downstairs, one foot on a step.
• Drink without assistance.
Red Flags In development
• Unable to sit alone by age 9 months
• Unable to transfer objects from hand to hand by age 1
year
• Abnormal pincer grip or grasp by age 15 months
• Unable to walk alone by 18 months
• Failure to speak recognizable words by 2 years.
• The child who can hop on one foot, copies circles, and brushes teeth
without help has achieved the developmental age of
A. 2 yr
B. 3 yr
C. 4 yr
D. 5 yr
E. 6 yr
• The child who can transfers object from hand to hand and babbles
has achieved the developmental age of
A. 4 months
B. 6 months
C. 8 months
D. 10 months
E. 12 months
• Stranger anxiety (infants normally become insecure about separation
from the primary caregiver) develops in age between
A. 6 and 9 months
B. 9 and 18 months
C. 18 and 24 months
D. 24 and 36 months
E. 36 and 48 months
Metabolic &
Genetics
Clues to metabolic disorders
Healthy at birth then progressively sick
May present hours to years after birth
Family history
 ENZYMEME

A B
Major classifications
• Protein:
• Organic acidemias
• Amino acid metabolism
• Urea cycle defects

• Fat:
• Fatty acid oxidation defects

• Carbohydrate:
• Galactose, glucose, fructose

• Others:
• Lysosomal storage disease
• Perixisomal disease
Initial Actions
1. Keep NPO

2. Hydrate with IVF (D10%)

3. Initial work up: Blood gas (anion gap), urine for ketones, blood
sugar, ammonia, lactate
4. Consider ammonia scavengers (if ammonia is high)
Maple Syrup Urine Disease (MSUD)
• Aminoacidopathy (defect in catabolic pathway of leucine, isoleucine, valine)
• Presentation typically after few days (D7) with:
• Feeding difficulties
• Poor response, loos of reflexes
• Seizure, opisthotonos rigidity
• Irregular respiration
• Urine smells like syrup with sweet

• Dx: elevated leucine, isoleucine and valine, DNA testing.

• Mx: restrict protein diet (low leucine, isoleucine and valine)

Phenylketonuria
• Most common IEM of amino acid metabolism
• Elevated phenylalanine level
• Features:
• Fair skin and hair
• Hair loss
• Eczema
• Intellectual disability
• Seizure

• Mx: restrict phenylalanine in diet, BH4 (cofactor)

Galactosemia
• Carbohydrate metabolism disorder
• GALT def. (most common)
• Features:
• Jaundice
• Hypoglycemia
• Cataract
• Seizure
• Hepatomegaly, splenomegaly
• E.coli (or any gram negative) sepsis
• Mx: elimination of galactose from diet (stop breast feeding)
• Galactosemia is an autosomal recessive disease characterized by all
the following EXCEPT
A. hyperbilirubinemia
B. disorders of coagulation
C. hyperglycemia
D. glycosuria
E. aminoaciduria
• Phenylketonuria (PKU) is characterized by all the following EXCEPT
A. autosomal recessive inheritance
B. primarily affects the heart
C. affected infants are normal at birth
D. untreated infants develops severe mental retardation in infancy
• A 3-week-old neonate presented with poor feeding, vomiting, and
tachypnea with profound depression of the central nervous system,
associated with alternating hypotonia and hypertonia, opisthotonos,
and seizures. Laboratory manifestations reveal hypoglycemia and
metabolic acidosis with high anion gap. Of the following, the MOST
likely diagnosis is
A. tyrosinemia
B. phenylketonuria
C. homocystinuria
D. maple syrup urine disease
 Trisomy 21
Manifestations:
1) Immediate :
Duodenal atresia
CHD

2) Craniofacial appearance:
Round face, flat nasal bridge
Eyes: upslanted palpebral fissures, epicanthic folds, brushfield spots in iris
Small mouth, protruding tongue
Small low set ears
Flat occiput
• Other anomalies:
• Short neck
• Hands: single palmar creases (simian crease), incurved 5th finger (clinodactyly)
• Feet: wide sandal gap
• Hypotonia
• CHD (~40): AVSD, others
• Congenital GI defects (6%): duodenal atresia, jujenal atresia, hirschprung
disease
• Later medical problems:
• Delayed milestones
• Moderate to severe learning difficulties
• Small stature
• Increased susceptibility to infections
• Hearing impairment (from recurrent otitis media)
• Visual impairment (cataract, squint, myopia)
• Increased risk of leukemia (AML) and solid tumors
• Risk of atlantoaxial instability
• hypothyroidism, celiac disease
• Epilepsy
• Alzheimer disease
Turner syndrome (45 XO)
• Webbed neck, low hairline
• Shield chest with widespread nipples
• Lymphedema
• Short stature
• CHD: bicuspid valve, coarctation of aorta
• Ovarian dysgenesis, delayed puberty
• Renal anomalies: horseshoe kidneys
• Most will have normal intelligence
Noonan Syndrome
 Noonan Syndrome
• Widely spaced eyes (hypertolerism)
• Low set ears
• Webbing of the neck
• Shield chest, pectus excavatum
• CVS: Pulmonary stenosis, hypertrophic cardiomyopathy
pierre robin sequence
• Marfan syndrome
• A 10-month-old baby with achondroplasia; developing recurrent
apneas. Of the following, the MOST likely cause is
A. dental malocclusion
B. narrowing of the foramen magnum
C. hydrocephalus
D. obstructive apnea
E. lumbar lordosis
• One of the following is an example of an x-linked recessive disorder

A. cystic fibrosis (CF)

B. congenital adrenal hyperplasia
C. Gaucher disease
D. adrenoleukodystrophy
E. sickle cell disease
• Which of the following is an X-linked dominant inheritant disease?

A. Duchenne muscular dystrophy

B. Gaucher disease
C. Angelman syndrome
D. cat eye syndrome
E. Rett syndrome
Autosomal recessive
Autosomal dominant
X-linked dominant
Gastroenterology