NICU Case Based Challenge!

Jeopardy!
“Challenging Neonatology Case Studies”
Fatima Farid- Ped Resident Yr 4

The Game
• Our aim is to critically analyze real life case scenarios & challenge
ourselves to reach the diagnosis
• Learning about new diseases or odd presentations of common
conditions can help you save a life some day!
• Sometimes all we need is an index of suspicion & the diagnosis can
be picked up without advanced investigations

The Game
• Please divide into two teams of maximum 15 residents
• Choose a leader who will answer on the team’s behalf 
• There is no time limit per question!
Remember, the real winner is the one who learns the most!

Category 1 Category 2 Category 3 Category 4 Category 5 Category 6
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CATEGORY 1 · $200
Case adapted from: Challenging Cases in Neonatology, AAP – Case #7

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- Presenting Complaint:
3-week-old male presents to ED for evaluation of extensive facial dermatitis
- PHx:
~ Unremarkable antenatal period. NVD at 39 weeks GA, APGAR 9 & 9. BW 3.6 kg.
~ No blisters were noted either at birth or in the immediate perinatal period
~ Fed standard cow milk formula and has good weight gain
CATEGORY1 · $200

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- HPI:
~ 3 days ago: developed perioral redness, which has progressed to involve the entire face
~ Assoc. with fussiness since onset of the rash
~ He has remained active, feeding well, & has normal urination and stooling
~ No fever or other symptoms
~ Not taking any medications, no fam Hx of blistering or other skin disease, and the infant has no sick
contacts
CATEGORY1 · $200

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- O/ E:
~ Wt, Lt & HC on 50th percentile
~ Temp 38.5°C, HR 120 bpm, RR 30 breaths/min, BP 90/40 mmHg
~ Diffuse erythema, desquamation, fissuring and honey crusting in the perioral and cheek areas
~ Fine desquamation in flexural areas (esp. axillae, groin, gluteal cleft)
~ Several intact flaccid bullae on the hands
~ Conjunctival mucus discharge without conjunctival injection, no intra- oral lesions
~ All other systemic exams normal
CATEGORY1 · $200

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CATEGORY1 · $200

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- Labs:
~ Hb 14.2 g/dL, WBC 10.6×103/mcL, Plts 450.0×103/mcL
~ Blood, urine & CSF cultures negative for bacteria & HSV
~ Skin lesion cultures grew Staph aureus
- Hint:
~ During LP, foci of desquamation were noted on the back at the pressure sites where the physician’s
non- dominant hand was placed while inserting the spinal needle
~ Similar superficial peeling on the extremities was noted during insertion of a peripheral intravenous line
CATEGORY1 · $200

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What do you think is the most likely diagnosis
& why?
A. Bacterial sepsis
B. Staphylococcal scalded skin syndrome
C. Toxic epidermal necrolysis
D. Meningitis
E. Epidermolysis bullosa
CATEGORY1 · $200
~ Staphylococcal scalded skin syndrome is a common exfoliative
skin condition in children, and clinicians should have high index of
suspicion due to the potential for significant morbidity and
mortality
~ Clinically, Nikolsky sign (shearing superficial skin layers) is a
key diagnostic feature
~ S aureus is the bacterial pathogen responsible for SSSS , and
treatment with parenteral antibiotics is indicated
~ Although there are reports of MRSA causing SSSS, most cases
are not due to resistant S aureus
~ Mupirocin topical ointment applied to the nares, a common site
for S aureus carriage, can aid in eradicating the carriage state to
prevent recurrence

CATEGORY 1 · $400

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CATEGORY1 · $400
- Antenatal Hx:
~ 37 weeks gestation, G2P1 mother
~ Unremarkable antenatal period till low biophysical profile score (4/8) on routine prenatal assessment
~ Fetal HR decelerations to 80 beats/min & multiple late decelerations were noted the evening of
delivery, and an emergent cesarean section is planned
~ Baby however then delivered precipitously prior to entering the OT

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CATEGORY1 · $400
- Birth Hx:
~ Live baby boy, BW 2.2 kg
~ Apgar scores: 7, 7, and 8 at 1, 5, 10 mins
~ Placental abruption is evident after delivery
- O/ E:
~ Baby is limp, spontaneously breathing w. RR 60 breaths/min & mild intercostal retractions
~ HR 130 beats/min, heart sounds not audible, weak femoral pulses

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CATEGORY1 · $400
- Interventions:
~ CPAP started at 4-5 cm H2O, and baby is transported to NICU
~ BP 44/16 mm Hg (MAP 27), SpO2 98% with CPAP, poor color and tone
~ Baby subsequently receives bag-and-mask ventilation & bolus of 10 mL/kg NS
~ Color and perfusion do not normalize with these interventions
~ Intubated w. size 3 ETT, vent. set: Rate 40, PIP 12, PEEP 4, FiO2 60%
~ Dopamine started 10 mcg/kg/ min but baby does not improve significantly

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CATEGORY1 · $400
- Tests after intubation (approx. 1 hour of life):
~ ABG: pH, 7.32; PCO2, 36 mm Hg; PaO2, 64 mm Hg;
HCO3, 18 mmol/L
~ FBC: WBC 15.5×103/mcL, Hb 14.9 g/dL, Plts
131×103/mcL
~ CXR: As shown
~ ECG: Low voltage in all leads

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CATEGORY1 · $400
& why?
A. Hypovolemic shock due to placental
abruption
B. Septic shock due to maternal infection
C. Cardiogenic shock due to cong. heart
disease
D. Obstructive shock due to
pneumopericardium
~ Pneumopericardium (PPC) should be considered in the
DDX of a newborn in shock
~ May be spontaneous or induced by trauma
~ Key features: cyanosis, muffled heart sounds,
hypotension, & poor capillary refill esp. with no clinical
improvement on standard resuscitation + classic halo sign
on CXR
~ TTT via pericardiocentesis is indicated if cardiovascular
instability is present

CATEGORY 1 · $600

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CATEGORY1 · $600
- Birth Hx:
~ Term male infant, NVD, BW 3 kg
~ Regular nursery care, O/E 1 natal tooth seen
~ Breast fed + occasional formula feeds, good suck & swallow
~ On day 3 of life, baby develops jaundice & is started on phototherapy
- HPI:
~ On day 4 of life, watery diarrhea starts which was interpreted as phototherapy- related
~ Diarrhea continues and serum chemistry shows hyperchloremic metabolic acidosis
~ The infant is transferred to the NICU for further evaluation

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CATEGORY1 · $600
- Assessment:
~ Active and alert with a voracious appetite
~ Taking 4 to 5 oz/feed w/o clinical evidence of dehydration
~ Wt loss is only 155 g (5% of birthweight)
~ Na 137 mmol/L; K 3.8 mmol/L; Cl 116 mmol/L; HCO3 9 mmol/L; AG 12
~ FBC: WBC 15.3 k; Hb 13.4 g/dL; Plts 445,000
~ Stool: culture neg; occult blood neg; fat 2+; reducing substances +++

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CATEGORY1 · $600
- NICU Course:
~ Kept NPO, diarrhea decreases soon after and then stops
~ Re- started on human milk and diarrhea reappears. Made NPO again and diarrhea stops again.
~ Alimentum/ Pregestamil (cow milk based extensively hydrolysed formula) tried: feeds well, always
hungry, no vomiting, but watery diarrhea becomes worse
~ After consultation with ped gastro, he is made NPO for 1 day and then started on Neocate (amino acid
based formula): it is tolerated well, the diarrhea stops, and birth weight is regained
~ Fam Hx reveals that a sibling had diarrhea as an infant which resolved following cessation of
breastfeeding

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CATEGORY1 · $600
- Labs:
~ Blood culture negative
~ LFT, TFT: normal
~ RBC galactose-1-phosphate uridyl transferase (GALT) level: normal
~ Glucose-6-phosphate dehydrogenase: normal
~ Pancreatic elastase: normal
~ Vasoactive intestinal peptide 24.4 (normal: 20 to 42 pg/mL)
~ Urine organic acids: negative

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CATEGORY1 · $600
& why?
A. Congenital microvillus atrophy
B. Congenital chloride losing diarrhea
C. Congenital tufting enteropathy
D. Neuroendocrine tumour
E. Congenital glucose- galactose
malabsorption
~ Glucose/galactose malabsorption is an AR disorder
caused by a mutation in Na+/glucose cotransporter
~ Classically presents in neonates or soon after introduction
of human milk/ formula: baby is vigorous, nurses well w. a
voracious appetite but progresses to life-threatening, profuse
watery diarrhea + hypernatremic dehydration with metabolic
acidosis
~ Sudden cessation of diarrhea with fasting or the removal of
offending sugar lactose. Mx: glucose/galactose-free formulas
~ Tolerance to carbohydrate-containing drinks improves
gradually (variable degrees)

CATEGORY 1 · $800

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CATEGORY1 · $800
- HPI:
9- day- old baby girl presents with fever, feeding refusal, vomiting, diarrhea, & a large abdomen
- Birth Hx:
~ Mother G2P1, unremarkable antenatal period
~ 39 weeks GA, NVD, BW 3.5 kg
~ Non- consanguineous marriage
~ One male sibling is well at age 21 months
~ Family and travel Hx are negative

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CATEGORY1 · $800
- O/E:
~ Temp 39°C, RR 78 breaths/min, HR 189 bpm, weight 3.16 kg
~ Pale, miserable, jaundiced, grunting. No dysmorphic features.
~ Bruises on different parts of the body
~ Hepatomegaly (7 cm BCM), splenomegaly (5 cm BCM)
~ Other systemic exam normal
- Intervention:
Blood investigations sent and she is started on phototherapy, IV fluids, IV antibiotics, and acyclovir

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CATEGORY1 · $800
- Tests:
~ CBG: pH 7.34; PCO2 27; HCO3 18; BE −11; lactate 6; glucose 72
~ FBC: Hb 3.8 g/dL; WBC 6.1 × 109/L; ANC 0.7 × 109/L; Plts 13 × 109/L
~ CRP: 44 g/L
~ LFT: total bilirubin 18.6 mg/dL; direct 1.7 mg/dL; ALT 870 U/L; ALP 400 U/L
~ Coag.: PT 14.7 (normal: 9.6–11.8); APTT 52 (normal: 28.0–40.0); INR 1.6 (normal: 1.2)
~ Coomb’s test: negative
~ U/E, Ca, PO4, creatinine: normal
~ CXR: normal
~ USS abdomen: hepatosplenomegaly

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CATEGORY1 · $800
- Progress: Critical & worsening- intubated; antibiotics upgraded; blood products & vitamin K PRN
- Further Labs:
~ FBC: Hb 5.3 g/dL; WBC 5.4 × 109/L; ANC 0.5 × 109/L; Plts 42 × 109/L
~ CRP: 69 mg/L; ferritin 2,675 mcg/L; fibrinogen 0.4 g/L; triglycerides 89 mg/dL
~ Blood cultures and viral DNA PCR for VZV, HSV, CMV, EBV, HIV, Hep A/B/C, Parvovirus: negative
~ Blood film: mixture of normal-sized mature and larger immature lymphocytes with prominent nucleoli and high
NC ratio, and a few nucleated red blood cells in conjunction with pancytopenia
~ Immunoglobulins and lymphocyte subsets: normal
~ Soluble CD 25 receptor: 2,237 (normal: 200–1,000) U/mL
~ Blood and urine tandem mass chromatography: normal

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CATEGORY1 · $800
& why?
A. Hemophagocytic lymphohistiocytosis
B. Congenital leukemia
C. Kawasaki disease
D. Underlying immunodeficiency w. sepsis
E. IEOM w. metabolic decompensation
~ HLH Dx Criteria (1 or 2 of the requirements below are fulfilled):
1. A molecular diagnosis consistent with HLH
2. Diagnostic criteria for HLH fulfilled (5 of the 8 criteria below):
a . Fever
b . Splenomegaly
c. Cytopenias (affecting ≥2 of 3 lineages in the peripheral blood)
i. Hb <100 g/L
ii. Platelets <100 × 109/L
Iii. Neutrophils <1 × 109/L
d. Hypertriglyceridemia and/or hypofibrinogenemia
i. Fasting triglycerides ≥3 mmol/L (265 mg/dL)
ii. Fibrinogen ≤1 g/L
e. Hemophagocytosis in the bone marrow, spleen, or lymph nodes
f. Low or absent NK cell activity
g. Ferritin ≥500 mcg/L
h. Soluble CD25 (IL-2 receptor) ≥2,400 U/mL

CATEGORY 1 · $1,000

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CATEGORY1 · $1000
- Antenatal Hx:
~ 35 weeks GA, primigravida
~ Pregnancy complicated by HTN, GDM, & bipolar disorder with a history of suicide attempts
~ Mother has been off medications for an undetermined amount of time
~ Blood type A+, and results of serologic tests including GBS are negative
~ Mother received butorphanol tartrate for pain control
Birth Hx:
~ Em. LSCS (SROM 12 hours prior to delivery + variable decelerations)
~ Apgar scores 8 and 9
~ Female, BW 2.99 kg, Lt 48.5 cm, HC 33.5 cm

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CATEGORY1 · $1000
- HPI:
~ A few hours after birth, the infant begins to have episodes of apnea and bradycardia
~ Naloxone administration results in no change, and antibiotic therapy is initiated
~ The infant is intubated & ventilated when the apnea fails to respond to CPAP and aminophylline
~ Father comes to visit: you notice he has a tracheostomy & diaphragmatic pacer attached to his belt
- Tests:
~ FBC, full septic screen, & CXR: normal
~ EEG & ECG: normal
~ CT brain: small subarachnoid hemorrhages in the left middle cranial fossa

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CATEGORY1 · $1000
If our patient has the same disease as her father, which of the following is true?
A. Brain MRI will show brain stem anatomic abnormalities
B. Most cases are genetically inherited rather than sporadic PHOX2B mutations
C. Caffeine therapy has revolutionized disease management
D. Oxygen supplementation is key to supporting life ahead
E. Hirschsprung disease is the most common associated disorder

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CATEGORY1 · $1000
Congenital Central Hypoventilation Syndrome (CCHS):
~ A rare disorder of respiratory control characterized by a normal respiratory pattern in the awake state and hypoventilation
with hypercapnia and hypoxemia during sleep. In more severe cases, the respiratory pattern also is affected while awake.
There is a negligible or absent respiratory response to hypercapnia or hypoxemia
~ Most cases of CCHS are sporadic, although familial cases have been described with AD inheritance. 90% have mutations in
the PHOX2B gene.
~ CCHS has been associated with other disorders that involve defective migration or differentiation of neural crest cells. The
most common associated disorder is Hirschsprung disease, which occurs in up to 20% of patients who have CCHS. Tumors of
neural crest cell origin, including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma, also have been described.
~ The brain is structurally normal in CCHS, but functional magnetic resonance imaging reveals abnormalities, including
abnormal neural responses to hypercapnia and hypoxia. Sleep studies & genetic tests also help in Dx.

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CATEGORY1 · $1000
~ Patients w. CCHS have other evidence of autonomic system dysfunction, including heartbeat variability and dysrhythmia,
gastrointestinal motility, abnormal pupillary responses, and disorders of sweating and temperature regulation.
~ CCHS is a lifelong disorder that requires lifelong respiratory support. Some form of mechanical ventilation is required
because supplemental oxygen alone is not adequate to prevent hypoventilation with hypercapnia and the subsequent
development of pulmonary hypertension.
~ Strategies like positive-pressure ventilation through a tracheostomy and bilevel positive-pressure ventilation through a face
mask are useful. Diaphragm pacing via electronic stimulation is another option and affords greater portability, allowing for at
least some periods of time free from mechanical ventilation. Respiratory stimulants, such as caffeine, have no role in the
management of CCHS.
~ Neurodevelopmental outcomes of affected children vary widely, but the average child has some degree of
neurodevelopmental delay. This may be the result of intermittent episodes of hypoxia, but a primary effect of the mutation on
cognitive ability cannot be excluded.

CATEGORY 2 · $200

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CATEGORY2 · $200
- HPI:
1-day-old girl presents with bilateral pedal edema at birth
- Birth Hx:
~ 37 weeks GA, G5P3 mother who received poor prenatal care
~ Mother’s blood type is O Rh+, rubella immune, neg for HepBsAg, syphilis & HIV
~ Pregnancy was complicated by pancreatitis
~ Delivered via repeat LSCS complicated by late decelerations
~ Apgar scores were 7 and 9 at 1 and 5 minutes

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CATEGORY2 · $200
- O/E:
~ No apparent distress, alert
~ Wt 3.0 kg, Lt 46 cm, chest circumference 34 cm (>90th %), HC 33 cm
~ Posteriorly rotated auricles, high-arched palate, excess skin fold over neck
~ Bilateral edema of feet w. normal CRT & positive femoral and pedal pulses
~ Bilateral hypoplastic toenails
~ Rest of systemic exam normal

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CATEGORY2 · $200

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CATEGORY2 · $200
- Tests:
~ FBC: WBC 7.2×103/mcL; Hb 16.9 g/dL; Hct 48%; Plts 177×103/mcL
~ Blood type B+; DAT +; unconjugated bilirubin 6.1 mg/dL; retics 5.2%
~ Echo: ASD secundum
~ Renal USS: normal
~ Newborn screening: normal
~ Hearing test: bilateral pass

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CATEGORY2 · $200
& why?
A. Congestive heart failure
B. Turner Syndrome
C. Milroy disease
D. Hydrops fetalis
E. Liver failure
~ The most likely cause of bilateral dorsal pedal edema in a
female newborn is TS
~ TS is characterized by partial or complete absence of one X
chromosome in some or all cells
~ Affects around 1 in 2,000 female live births & up to 10% of
spontaneous abortions
~ Although short stature and ovarian dysgenesis are classic
findings, TS pts are at risk for having multiple organ system dse
~ Clinicians must be aware of the morbidities associated with TS
and co- manage the patient’s care with appropriate subspecialists

CATEGORY 2 · $400

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CATEGORY2 · $400
- HPI:
~ 5-week-old previously well female, born at 41 wks GA
~ Presents to ED with poor feeding, lethargy and difficulty latching on to the breast
~ 2 weeks ago: dry cough + vomiting after each feed (non- bilious, non- bloody, approx. 1 ounce)
~ 3 days ago: projectile vomiting immediately following each feed
~ Today: breathing much harder + deeper than usual, continued & more frequent cough (paroxysmal, w/o
color changes). Baby does not look like herself and is difficult to arouse.

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CATEGORY2 · $400
- ROS:
~ Not fed at all today but having constant heavy, wet diapers
~ No fever, diarrhea or seizures
~ 2-year-old sister who attends childcare has a cough and URTI
- Birth Hx:
~ Unremarkable perinatal period
~ 41 wks GA, NVD
~ Birth wt 2.3 kg

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CATEGORY2 · $400
- O/E:
~ Temp 37.6°C, HR 173 bpm, RR 50, SpO2 100% on RA
~ Tired but arousable, crying w/o tears, sunken AF & eyes, dry lips
~ Tachypnea w. chest wall retractions, audible dry cough, lung fields clear
~ Tachycardia, no murmur/ gallop/ rub
~ Abdomen soft, no tenderness/ mass
~ Extremities warm, CRT approx. 3 seconds

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CATEGORY2 · $400
- Progress:
~ IV line inserted; NS 20 mL/kg bolus given
~ Ventolin neb started for respiratory distress
~ Septic screening sent
~ CXR & USS abdomen ordered
~ CBG: pH 6.93, BE −24, Na 146 mEq/L, K 7 mEq/L (7.0 mmol/L), Cl 111 mEq/L, HCO3 < 6 mEq/L,
~ BUN 26 mg/dL, creatinine 0.7 mg/dL, glucose of 774 mg/dL

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CATEGORY2 · $400
& why?
A. Supraventricular tachycardia
B. Myocarditis
C. Intussusception
D. Neonatal diabetes
E. Sepsis
~ Neonatal diabetes mellitus is a rare but serious condition
that should be considered in the DDX of an ill-appearing
infant
~ Close blood glucose monitoring is essential for as long as
hyperglycemia persists
~ Insulin therapy usually is required, but not always lifelong
~ Recurrent diabetes is common in patients who have
TNDM, so prolonged follow-up is imperative

CATEGORY 2 · $800

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CATEGORY2 · $800
- HPI:
~ 2 m. old male presents for 3rd time w. Hx of abnormal movements assoc. w. bluish skin. Not resolving
despite use of anti-convulsant meds.
~ Sudden, startling jump f/b forceful body contraction: baby becomes rigid, w. fists firmly clenched, arms
flexed, spine erect, head tilted slightly backward, & legs extended. He remains awake during and after
the episode; lasts approx. 10 sec and f/b floppiness for 1 to 2 sec; +/- accompanied by bluish
discoloration of entire body
~ Startling sounds or even a sudden touch trigger the episodes; occur frequently all day long; firm
holding, and hugging seem to stop the episodes

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CATEGORY2 · $800
- Birth Hx:
~ Unremarkable antenatal period but mother says baby’s movts in womb were different from her previous
pregnancies
~ Born at term, NVD, Apgar scores 7, 7 at 1 & 5 mins
~ Aspirated meconium & admitted to NICU due to respiratory distress.

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CATEGORY2 · $800
- NICU Course:
~ Septic screening negative. Rcvd AmpiGenta, did not need intubation or blood transfusion.
~ ABO incompatibility requiring transient phototherapy
~ Developed abnormal movts (as described) on Day 1 of life – EEG & CT brain were normal
~ D/C w. prescription for oral phenobarbital, but soon re-admitted a few days later due to the persistence
of symptoms. Repeat EEG, CT brain & metabolic tests were normal. Oral phenytoin was added to the
anticonvulsant regimen on second discharge.
~ No fam Hx of similar conditions

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CATEGORY2 · $800
- O/E:
~ Awake, active. VS normal. HC 34 cm.
~ No abnormal skin pigmentation/ hemangiomas. No palate deformity or dysmorphic facies.
~ Startles in rxn to clapping of hands & tapping over patellar tendon; startle rxn is exaggerated (jump f/b
generalized muscular spasm w. clenching of the fists, flexion of the arms, erection of the spine, and
extension of the legs). No lip smacking, rolling of the eyes, or blinking. Episodes last a few seconds and
can be stopped with forced flexion of the head and legs over the trunk. If the episodes are not stopped,
the baby’s face turns cyanotic. He exhibits hypertonia during episodes.
~ Abd exam has umbilical hernia, but rest of systemic exam is normal

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CATEGORY2 · $800
- Rpt Investigations:
~ Brain USS, CT & MRI normal
~ Blood & urine cultures negative
~ Ammonia are 34.3 mcg/dL
~ Glycine is minimally increased
~ Lactic acid 31 mg/dL (3.4 mmol/L)
~ Pyruvic acid < 0.1 mg/dL; total carnitine 54 mcmol/L; free carnitine 54 mcmol/L
~ HIV-1 ELISA negative, blood grp B+

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CATEGORY2 · $800
& why?
A. Hyperekplexia
B. Meningitis
C. Sandifer syndrome
D. Hypoxic brain damage
E. Neurofibromatosis
~ Hyperekplexia should be considered in patients who experience
abnormal movts triggered by sensory stimuli & in whom tonic
spasm can be elicited by tapping the nasal bridge
~ Other potential clues are stopping of the abnormal movts by
maneuvers such as forced flexion of head and legs toward the
trunk; normal results on CSF analysis, EEG, brain CT, MRI; &
presence of umbilical hernias due to hypertonicity and abnormal
movements
~ Mx involves knowing the maneuver that stops the spasm and,
thus, prevents the associated apnea due to forceful tonic spasms

CATEGORY 2 · $1000

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CATEGORY2 · $1000
- HPI:
~ 40 wks, SGA male delivered via elective LSCS
~ Unremarkable antenatal period, G2P1 mother
~ Phys exam on Day 1: infant is found to have liver palpable 3 cm BCM, ascites, & large bruises over
face + trunk. VS & rest of systemic exam normal.
~ No fam Hx of bleeding disorders. However, further questioning reveals the mother’s only other
pregnancy resulted in term neonatal demise of an unknown cause at 6 hours after birth. Autopsy was
refused by the family at that time.

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CATEGORY2 · $1000
- Tests:
~ Septic screening negative
~ FBC: Normal apart from plts 24 × 103/mcL
~ Blood glucose: 40 mg/dL
~ PT 47 s, PTT > 200 s, INR 4.6, fibrinogen 50 mg/dL
~ LFT: AST & ALT normal, total bilirubin 15 mg/dL, direct 4 mg/dL
~ Ammonia: 143 mcg/dL
~ α-fetoprotein: 378,000 ng/mL (v. high)
~ USS abdomen: cirrhotic-appearing liver w. features of portal HTN & patent ductus venosus

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CATEGORY2 · $1000
Which of the following is true about the most likely underlying Dx?
A. Occurs due to an inborn error of iron metabolism in the fetus
B. Antenatal USS may show fetal hepatomegaly
C. Recurrence rate in subsequent pregnancies is < 1%
D. Normal post- natal AST & ALT are unlikely
E. IV iron chelation therapy is the first line Mx

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CATEGORY2 · $1000
Gestational Alloimmune Liver Disease (GALD):
~ Although rare, GALD is a common cause of noninfectious liver failure in neonates and the most common cause
of neonatal iron overload
~ Pathophysiology: alloimmune IgG attack to an unknown antigen on fetal hepatocytes, leading to C5b-C9
deposition and hepatocellular injury
~ Presentations: IUGR, prematurity, hypoglycemia, marked coagulopathy, ascites, liver failure, hyperferritinemia,
elevated α-fetoprotein level, and patent ductus venosus. Antenatal USS may detect ascites, fetal hepatomegaly,
and fetal hydrops. The AST & ALT levels are normal or only minimally elevated because the liver damage
generally occurs well before birth.

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CATEGORY2 · $1000
~ Previous pregnancy loss or neonatal death secondary to liver failure should prompt suspicion for GALD
~ Definitive Dx is confirmed by iron deposition on extrahepatic tissue biopsy, usually of the oral mucosal salivary
glands. If a liver biopsy is performed, immunohistochemical staining for the C5b-C9 complex will be present.
~ Alternatively, T2-weighted MRI may be used to visualize hepatic and extrahepatic siderosis (most seen in the
pancreas, heart, and adrenal glands)
~ In the appropriate clinical scenario, if the results of MRI or extrahepatic biopsy are negative, the other test should
be ordered. On its own, each test is approximately 60% sensitive, but when the tests are performed together the
sensitivity increases to 80%.

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CATEGORY2 · $1000
~ Post-natal Mx of neonatal hemochromatosis historically included chelation therapy and the use of antioxidants
~ This has since been replaced with double volume exchange transfusion and IVIG administration, which
decreased liver transplantation rates from 83% to 25% & is associated with normal long-term liver function
~ Rate of lethal recurrence of GALD is approx. 90% of subsequent pregnancies, making prenatal Mx crucial
~ If a pregnancy is subsequent to a prior known case of GALD, then TTT with IVIG 1 g/kg at 14 weeks’ gestation is
warranted. IVIG should again be administered at 16 weeks and weekly from the 18th week until the end of
pregnancy. Research has found this regimen to be nearly 100% effective at preventing GALD.

CATEGORY 3 · $200

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CATEGORY3 · $200
- HPI:
~ A pair of twin sisters in the nursery remain persistently jaundiced at 1 month of age
~ Mother’s blood type is O +, babies’ blood type is B -, DAT -
- Birth Hx:
~ DCDA twins, AGA
~ Unremarkable antenatal period, born via NVD
~ Apgar scores of 8 and 9 at 1 and 5 minutes for both
~ Twin A weighed 1.3 kg & twin B weighed 1.5 kg
~ Admitted to NICU in view of prematurity

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CATEGORY3 · $200
- NICU Course:
~ Initially had mild respiratory distress requiring nasal cannula O2
~ Thermoregulation in an isolette
~ Gavage feedings with breast milk
~ Apnea and bradycardia treated with caffeine
~ They now are in cribs, exclusively breast fed & otherwise well
~ Exam is unremarkable apart from jaundice. Both infants are growing along the 25th- 50th percentile for
weight and occipitofrontal circumference.

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CATEGORY3 · $200

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CATEGORY3 · $200
& why?
A. Breast feeding jaundice
B. G6PD deficiency
C. Biliary atresia
D. Breast milk jaundice
E. Hypothyroidism
~ Breast milk jaundice is a Dx of exclusion, but a Hx of a
similar affliction in siblings and lack of hemolytic disorders in
the family can be reasonable indicators
~ No confirmatory test, but brief cessation of breastfeeding
results in a decline in the serum bilirubin values, & there is
rebound after reintroduction of human milk
~ The rebound generally does not lead to bilirubin
concentrations noted before cessation & no long-term
neurodevelopmental effects result from breast milk jaundice

~ Presence of a lipoprotein lipase in breast milk  releases free fatty acids
 inhibit glucuronyl transferase enzyme activity
~ Progesterone metabolite in the milk (5 beta-pregnane-3 alpha, 20 beta-
diol, and other pregnanediols)  which inhibits glucuronyl transferase
enzyme activity
~ Increased beta-glucuronidase activity in breast milk  increased
conversion of bilirubin diglucuronide to monoglucuronide  reabsorption &
enterohepatic circulation of bilirubin

CATEGORY 3 · $400

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CATEGORY3 · $400
- HPI:
A late-preterm male is noted at birth to have respiratory distress & blueberry muffin rash
- Prenatal + Birth Hx:
~ G1 mother, negative serologies
~ Presented at 36 weeks in labor with SROM (clear fluid)
~ Delivered by LSCS because of fetal decelerations. Apgar 5, 5 at 1 and 5 minutes.
~ Intubated for respiratory distress shortly after birth
~ BW: 2.4 kg, Lt: 43 cm, HC: 32.5 cm

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CATEGORY3 · $400
- O/E:
~ Temp 37.4°C, HR 140 bpm, RR 57/ min, BP 66/36 mm Hg, SpO2 96%
~ Intubated, mechanically ventilated. No dysmorphic features.
~ Chest: B/L coarse breath sounds, normal heart sounds
~ Abdomen: full, marked hepatomegaly, palpable spleen
~ CNS: AF open, mildly to moderately full. Pupils 4 mm on right, 2 mm on left, trace reactivity. Left-sided
facial weakness, blinks to light on the left but not on the right. Spontaneous movement of lower
extremities, moves left upper extremity to tactile stimulation, occasional and minimal movement of the
right upper extremity. DTR 2+ throughout but brisker on the left, appendicular hypotonia present.

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CATEGORY3 · $400
- O/E:
~ Skin: diffuse, non-blanching, bluish-red macules,
patches, and nodules generally smaller than 1.5 cm
covering the scalp, face, chest, abdomen, back,
extremities, palmar and planter surfaces. Multiple
petechiae present, oozing from umbilical line site
noted.

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CATEGORY3 · $400
- Tests:
~ WCC 225 × 109/L (70% blasts), Hb 9.2 g/dL, Plts 110 ×
109/L
~ PT 65.1 seconds, PTT 58.6 seconds, INR 7.7
~ LDH 76,000 U/L, uric acid 9.1 mg/dL
~ Brain USS: large right-sided subdural mass lesion, most
consistent with a hematoma with blood products of varying
age
~ Abdomen USS: hepatomegaly with liver measuring 8 cm,
spleen 3.6 cm

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CATEGORY3 · $400
- Tests:
~ Brain MRI: large right-sided subdural hematoma
(3 × 6 cm) with extensive mass effect and midline
shift, resulting in uncal herniation and obstruction of
the left lateral ventricle. Extensive damage of the
right parietal, occipital, and temporal lobes; multiple
infracts in both hemispheres; and diffuse
pachymeningeal and leptomeningeal enhancement.

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CATEGORY3 · $400
& why?
A. Congenital leukemia
B. TORCH infection
C. DIC
D. Hemangiomatosis
E. Parvovirus infection
~ Cong. leukemia is usually myelogenous in origin, with
acute myelomonocytic (M4) and monocytic (M5) being the
most common subtypes
~ Characteristic features are hepatosplenomegaly and
leukemia cutis (infiltration of the dermis and subQ fat with
leukemic cells)
~Respiratory distress may be present 2ry to pulmonary hge
from thrombocytopenia or extensive leukemic infiltration &
atelectasis
~ A bulging fontanelle may indicate meningeal infiltration or
intracranial hemorrhage

CATEGORY 3 · $600

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CATEGORY3 · $600
- HPI:
5 days after birth at a private hospital, an infant is brought to your hospital b/c he is inactive and limp
- Birth Hx:
~ Unremarkable antenatal period
~ 1st cousin consanguineous parents, 1st baby
~ NVD w. outlet forceps, BW 3.25 kg
~ He did not cry until 1 hour after birth, was limp, fed poorly & a few hours later had cyanosis of lips/ nails +
generalized TC convulsions that were unresponsive to anti-convulsants and IV glucose
~ Parents were told he had hypoxic brain injury & possibly an ICH
~ The convulsions became less frequent once expressed breast milk was provided via NGT

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CATEGORY3 · $600
- O/E:
~ Temp 36.6 °C, HR 170 bpm, SpO2 98%
~ Wt 3.66 kg, Lt 49 cm, HC 33 cm
~ Inactive and limp. His cry is feeble and response to pain is minimal.
~ AF normal, hydration is adequate. Asymmetric moro reflex, poor sucking + rooting reflexes.
~ Non- dysmorphic features, & rest of systemic exam unremarkable.

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CATEGORY3 · $600
- Labs:
~ Blood glucose: 41 mg/dL
~ Urine ketones: negative
~ FBC, U/E, calcium, LFT: normal
~ Blood, urine & CSF cultures: sterile
~ CXR, USS abdomen: normal

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CATEGORY3 · $600
- Progress:
~ Baby experiences recurrent episodes of hypoglycemia despite administration of IV dextrose at GIR >
15 mg/kg/min
~ Boluses of dextrose are given whenever hypoglycemic episodes occur + hourly NG feeds of EBM are
given, after which he becomes active/ alert, & all the previously noted symptoms disappear
~ Any attempt at reducing the concentration of IV glucose results in a precipitous fall in blood glucose
concentrations
~ He is gaining weight at a rate of about 54 g/day

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CATEGORY3 · $600

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CATEGORY3 · $600
& why?
A. Munchausen syndrome by proxy
B. Persistent hyperinsulinemic hypoglycemia
of infancy (PHHI)
C. Beckwith- Wiedemann syndrome
D. Fatty acid oxidation defect
E. Hypopituitarism
~ PHHI is an important, although rare, cause of hypoglycemia in
early infancy
~ A combination of seizures, sub-normal temperature, irritability,
cyanosis, apathy, tachycardia, hypotonia, apnea + prompt
resolution of symptoms with treatment + requirement of higher-
than-normal glucose infusion rates to maintain euglycemia +
greater-than-normal weight gain suggest the condition
~ An insulin:glucose ratio of more than 0.4 is highly suggestive
~ Early Dx is critical to avoid death or permanent brain damage
(leading to dev delay, recurrent seizures, & irreversible mental
retardation)

CATEGORY 3 · $1000

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CATEGORY3 · $1000
- HPI:
~ A female infant in NICU develops severe tachycardia and tachypnea on Day 6 of life
- Birth Hx:
~ 35 wks GA, G1P0 mother w. Hx of anemia, fibroids & a throat disease
~ Mother AB+ blood grp, serology neg, GBS pending
~ Presented in preterm labor several hours after ROM at home w. clear amniotic fluid
~ Delivered by LSCS due to progressing preterm labor and a frank breech presentation
~ The infant initially had poor color, tone, heart rate, and respiratory effort which improved after 2 mins of PPV
~ Apgar scores were 5 & 8
~ After resuscitation, she continued to have nasal flaring and increased work of breathing so shifted to NICU

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CATEGORY3 · $1000
- O/E:
~ Wt 2.2 kg, Lt 46 cm, HC 32 cm
~ Temp 36.6°C, HR 152 bpm, RR 58, SpO2 92%, BP 76/46 mmHg
~ Mild respiratory distress and soft 2/6 systolic murmur over the apex
- Mx:
~ Stabilized with oxygen & fluids
~ Full septic work- up collected & AmpiGenta started

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CATEGORY3 · $1000
- Progress:
~ By 48 hrs of admission, baby had almost normalized
~ However, on Day 6: HR > 220 bpm, RR > 100, v. agitated
~ Rpt CXR: enlarged cardio-thymic silhouette
~ ECG: sinus tachycardia & RVH (normal for age)
~ Echo: normal
~ Full septic work- up collected
~ Abx re- started but this time w/o any improvement

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CATEGORY3 · $1000
What is the single next best investigation
& why?
A. Peripheral blood film
B. Kleihaur- Betke test
C. Thyroid function test
D. Serum ammonia
E. Immune status screen

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CATEGORY3 · $1000
Neonatal Thyrotoxicosis:
~ Neonatal thyrotoxicosis is caused by the transfer of maternal thyroid Abs across the placenta (as early as 20 wks
GA)
~ Such IgG Abs come in two varieties: TSH-stimulating antibody (TSAb) & TSH-blocking antibody (TSBAb) - both
bind to TSH receptor (TSH-R) on the surface of the infant’s thyroid gland
~ When the TSAb binds to the TSH-R, the thyroid gland releases T4 & T3 as if stimulated by TSH itself, resulting
in hyperthyroidism
~ Thyroid Abs also occasionally can cross-react with the thymus causing an enlarged cardio-thymic silhouette on
CXR

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CATEGORY3 · $1000
Neonatal Thyrotoxicosis:
~ 2 primary goals of Mx : minimize the symptoms + achieving a euthyroid state
~ Infants who have no overt clinical signs and only a laboratory Dx usually can be observed closely w/o meds
~ Infants w. clinical compromise require a 2- medication approach: B- blocker for symptom control + anti-thyroid
agent to suppress thyroid hormone production
~ Thyroid antibody concentrations decrease over time and usually dissipate by 8 to 20 weeks of age, although
occasionally they are detectable until 6 months of age
~ Almost all infants who have neonatal thyrotoxicosis of this origin are euthyroid by 7 months

~ The mother likely was euthyroid prior to delivery due to the PTU she was
receiving
~ Because PTU crosses the placenta, the infant would have had an
effective concentration at birth
~ As the PTU concentration began to fall in the infant, the anti-thyroid
antibodies persisted, causing the infant to become progressively more
hyperthyroid!

CATEGORY 4 · $200

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CATEGORY4 · $200
- HPI:
~ A newborn male displays respiratory distress, flaccid abdominal musculature & undescended testes
- Antenatal Hx:
~ G3P1 mother, serology negative, GBS +
~ Antenatal Dx of bladder outlet obstruction with PUV, left cystic kidney, possible right talipes
equinovarus, and oligohydramnios. Amniocentesis revealed normal 46XY karyotype.
~ Underwent placement of a fetal vesico- amniotic shunt at 23 weeks’ gestation
~ Rpt USS at 31 wks GA: decompressed bladder, left kidney with mild dilation and multiple small cysts,
irregular abdominal musculature, and normal amniotic fluid volume

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CATEGORY4 · $200
- Birth Hx:
~ Rpt USS at 33 wks GA: decreased amniotic fluid volume, prompting hospitalization of the mother for IV
fluid hydration and corticosteroid administration
~ Delivered via emergency LSCS at 35 wks GA due to fetal distress
~ Apgar scores were 6 and 8 @ 1 & 5 mins
~ Infant developed increased work of breathing in the delivery room and was intubated
~ BW: 2.6 kg (50th percentile), Lt 47.5 cm (50- 90th percentile), HC 27 cm (<3rd percentile)
~ Renal USS: B/L cystic dysplastic kidneys w. echogenic cortex & multiple small cortical cysts, B/L
dilation of the renal pelvis and ureters + decompressed urinary bladder

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CATEGORY4 · $200
- O/E:
~ Temp 36.8°C, HR 152 bpm, RR 40, BP 68/37 mm Hg
~ Intubated. Relatively small chest w. subcostal retractions.
~ Bulging abdomen, poor flaccid abd musculature, non- tender,
palpable bowel loops. Palpable left flank mass. Vesico- amniotic
tube to the right of umbilicus draining urine. Normal penis with
B/L undescended testes.
~ Right talipes equinovarus

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CATEGORY4 · $200
& why?
A. Prune Belly Syndrome
B. Cong. muscular dystrophy
C. Neurogenic bladder
D. Wilm’s tumour
E. Disorder of sexual differentiation
~ PBS is a rare disease primarily affecting males that is
characterized by a triad of: deficient abd musculature +
cryptorchidism + urinary tract abnormalities & related
complications
~ Approx 30% of those who survive the neonatal period
develop chronic renal insufficiency needing dialysis or
transplantation
~ Early Dx and Mx can lead to improved perinatal outcomes,
although long-term data regarding chronic renal disease are
not yet available

CATEGORY 4 · $600

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CATEGORY4 · $600
- HPI:
~ 1 month old baby girl presents w. an episode of cyanosis lasting 2 mins
~ 2- day Hx of increased work of breathing with tachypnea and tracheal tugging
~ 2- week Hx of cough, rhinorrhea & nasal congestion
- Birth Hx:
~ Born at 36 wks GA, G2P2 mother
~ Limited antenatal care due to poverty
~ NVD in hospital, BW 3.5 kg

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CATEGORY4 · $600
- O/E:
~ Temp 34°C, HR 126 bpm, BP 58/31 mmHg, SpO2 40% in room air
~ CRT 5 seconds, cold peripheries
~ Lungs: coarse breath sounds with harsh crackles bilaterally
~ CVS: normal heart sounds, no murmur
~ Abdomen: hepatosplenomegaly
~ CNS: lethargic, minimally responsive

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CATEGORY4 · $600
- Tests:
~ ABG: pH 7.03, PCO2 70 mm Hg, HCO3 18 mEq/L, BE −13
~ WBC 25.6 × 103/mcL (41% neutrophils, 38% band forms)
~ CRP: 107 mg/L
~ LFT: total bilirubin: 1.3 mg/dL, ALT 22 U/L, AST 88 U/L
~ PT 31.9 seconds, INR 3.1, APTT 51.9 seconds
~ CSF, blood & urine cultures: negative
~ Resp culture: gram positive bacilli
~ Serum lactate level: 6.7 mmol/L
~ Metabolic & immune status screen: pending
~ CXR: as shown

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CATEGORY4 · $600
& why?
A. Myocarditis
B. Pertussis
C. Adrenal insufficiency
D. Congenital tuberculosis
E. Non- accidental injury
~ Congenital TB has varied and non- specific signs and
symptoms at the time of presentation
~ Imaging & other diagnostic studies may produce
inconclusive results
~ Dx should be considered in an infant with shock or
pneumonia who is unresponsive to standard Abx, esp in
infants who have unexplained hepatosplenomegaly
~ Multi-drug anti- TB regimens are safe + effective for Mx

CATEGORY 4 · $800

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CATEGORY4 · $800
- HPI:
~ A nurse in NICU reports that a 5-week-old male infant has tachypnea
~ He has acute episodes of irritability while being fed for the past week & has not gained weight
~ The fussiness while feeding had initially been attributed to GERD
- Birth Hx:
~ LSCS at 29 wks GA due to late fetal decelerations
~ Mild RDS that required CPAP for 48 hrs
~ Initially received IV fluids & was gradually started on feedings

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CATEGORY4 · $800
- O/E:
~ Temp 36.5°C, HR 178 bpm, RR 76, BP 56/28 mmHg, SpO2 98% on room air
~ Wt 2 kg, Lt 42 cm, HC 30 cm
~ CRT > 5 sec, feeble pulses, cool extremities, nasal flaring + subcostal retractions
~ Chest: B/L crackles
~ CVS: Gallop rhythm, 4/6 holosystolic murmur radiating to the left axilla
~ Abd: Liver palpable 5 cm BCM

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CATEGORY4 · $800
- Tests: ~ FBC & U/E: normal

⬅ BACK TO PANEL
CATEGORY4 · $800
& why?
A. Aspiration pneumonia
B. ALCAPA
C. Severe GERD
D. Septic shock
E. Large AVSD
~ Anomalous origin of the left coronary artery from the pulmonary
artery is one of the important causes of dilated cardiomyopathy in
infants
~ Symptoms include poor feeding, pallor, and paroxysms of
crying, irritability, or diaphoresis  represent chest pain
~ High index of suspicion is required b/c it may mimic infantile
colic, gastroesophageal reflux, or viral bronchiolitis.
~ ECG shows features of lateral wall MI (deep Q waves in lead I,
aVL, V4- V6)
~ Doppler color flow echo mapping improves the Dx accuracy
~ Surgical revascularization is the definitive TTT

CATEGORY 4 · $1000

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CATEGORY4 · $1000
- HPI:
36 wks GA male is diagnosed antenatally w skeletal abnormalities
- Antenatal Hx:
~ 36 wks GA, G2P2 mother
~ Fetal USS: polyhydramnios, short bowed legs, B/L talipes equinovarus & absent nasal bone
~ Fetal echo: normal
~ NIPT: negative for trisomy 13, 18, and 21
~ α-fetoprotein: 0.7 MOM (reference range <2.0 multiple of the median)
~ Hx of previous baby w. Chiari malformation & hydrocephalus that required VP shunt

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CATEGORY4 · $1000
- Birth Hx:
~ Male, AGA
~ Induced vaginal delivery b/c of polyhydramnios + short, bowed long bones
evident on USS
~ Poor respiratory effort at birth & required intubation
~ Apgar scores 5 and 6 @ 1 & 5 mins
- O/E:
~ Widely split cranial sutures, soft skull bones, facial bruising
~ Excessive plantar flexion of both feet, & contractures of all 4 extremities
~ Skin dimples are present in all 4 distal extremities

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CATEGORY4 · $1000
- Labs:
~ ALP: < 20 U/L (reference range: 38–405 U/L)
~ Ionized calcium: 6.0 mg/dL (reference range: 4.48–5.28 mg/dL)
~ PO4: 6.1 mg/dL (reference range: 3.6–8.2 mg/dL)
~ Vitamin D: < 8 pg/mL (reference range: 31–87 pg/mL)
~ PTH: 14 pg/mL (reference range: 8–72 pg/mL)
~ Urine organic acids: high phosphoethanolamine level
~ Vitamin B6: high pyridoxal 5-phosphate level

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CATEGORY4 · $1000
- Imaging:
~ Skeletal survey: decreased bone mineralization (esp in skull), diffuse metaphyseal dysplasia w.
bowing deformity in extremities, radial spurs & dysplastic ribs
~ Brain MRI: v. immature & simplified gyral pattern w. decreased & shallow sulci + several B/L foci
of restricted diffusion suggesting small acute infarcts
~ EEG: sharp transient activity in all 4 quadrants but no definable epileptiform activity
~ Renal USS: mild dilation of renal pelvices bilaterally
~ Echo: normal

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CATEGORY4 · $1000
- NICU Course:
~ Day 3: condition deteriorates w. worsening
apnea & bradycardia
~ Day 7: given do not resuscitate status at
the parents’ request
~ Day 13: dies after a severe apneic episode

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CATEGORY4 · $800
What do you think is the most likely diagnosis & why?
A. Rickets
B. Achondroplasia
C. Hypophosphatasia
D. Osteogenesis imperfecta
E. Ehlers- Danlos Syndrome

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CATEGORY4 · $1000
Hypophosphatasia:
~ Hypophosphatasia is an illness of decreased bone or teeth mineralization with associated low alkaline
phosphatase activity
~ It has a wide range of clinical presentations due to variations In the underlying cause
~ Complications such as dental disease, skeletal demineralization, hypercalcemia, bone fractures and
craniosynostosis are common
~ There is a perinatal type which often present in- utero with poor skeletal mineralization and shortened long
bones on prenatal USS. After birth affected infants have fragile bones with distinct radiographic findings.
~ There are also infantile, childhood & adulthood onset forms

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CATEGORY4 · $1000
Hypophosphatasia:
~ Hypercalcemia and lack of vitamin B6 become clinically important because patients with hypophosphatasia are
at higher risk for pyridoxine responsive seizures and vitamin B6 should be the first line treatment for seizures in
these infants
~ Hypophosphatasia should be included in the differential diagnosis for skeletal dysplasia
~ Lab abnormalities: severely low ALP level, hypercalcemia & an elevated urine phosphoethanolamine level
~ The earlier the onset of disease, the more severe disease course
~ Health maintenance with close monitoring for craniosynostosis is important

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