Practice MCQ Flashcards
33 week premature infant is born to a mother with hypertension. Baby is SGA. What other associated findings do you expect?
polycythmia
Baby 6 days old presents in shock. Glucose 1.6 and cardiomegaly on CXR. What is the most likely etiology of the shock?
congenital heart diseas
Baby with bili of 280 and conjugated 200? What is the most likely cause based on incidence?
Neonatal hepatitis 25%
or Extrahepatic Biliary atresia 25%
A newborn term infant had thin meconium at delivery but had good APGAR scores and required only 2 minutes of free flow O2. Now at 12 hours of age he has increasing work of breathing. On CXR there is hyperinflation of the RUL with mediastinal shift. What is the most likely diagnosis:
MAS
- hyperinflation
can have pneumothorax and pneumomediastium
Full term baby delivered after traumatic forceps delivery. Now 1 month old with vomiting, lethargy and red plaque on back of hand. What lab test would you check.
Calcium!
(hypercalcemia)
Subcutaneous fat necrosis.
Expectant management
Newborn was recently extubated after a course of systemic corticosteroids. What is the likely side effect?
hypertropic cardiomyopathy
Fullterm baby delivered to an O+ mom. Looks well but pale. Hb is 70, he is hemodynamically stable. What is the most likely diagnosis?
chronic fetal maternal hemorrhage
Breastfed babe born to vegan mom. What supplement should baby have to take?
What should mom have taken in pregnancy?
Zinc - fortified starting at 7mo
Vitamin D 400 IU or 800 winter if > 55d latitude
Mom: B12, vitamin D, folic acid, Linolenic acid, calcium
Who should not get soy formula owing to concerns with phytoestrogens
congenital hypothyroidism
Neonate with dehydration and mom was IDDM. Baby develops hematuria. What’s the dx:
Renal vein thrombosis
associated with IDDM, cyanotic CHD, umbilical lines
Prune belly syndrome
congenital disorder with clinical triad: abdominal muscle deficiency, severe Urinary tract abnormalities, bilateral cryptorchidism in males.
bilateral hydroureteronephrosis VUR obstruction malrotation of gut anorectal maflromations lung hypoplasia with oligohydramios
3 day old baby sent to NICU. Jittery, tachypneic with nasal flaring, poor feeding, myoclonic jerks. Given the MOST likely diagnosis what is your treatment?
Pyridoxine-dependent epilepsy
seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode
Term newborn RR 80, sats 89% RA. Remainder vitals stable BP 65/40. CXR shows fluid in the fissure and small R pleural effusion. No cardiomegaly. Next step in management?
TTN
CPAP
36 wk baby 2.1 kg (5lbs) at birth, day 7 jittery, irritable, on exam HR 218, T 37.5, RR 70 bp 90/60. Face is flushed, eyes wide open, alert but irritable, normal tone and normal cry, jaundiced, DTR’s 2/4 and symmetric. There is hepatosplenomegaly. What is the likely
diagnosis (1), List 2 tests to confirm your diagnosis
Neonatal Grave’s disease
- maternal Thyroid receptor stimulating ab transmitted. meds excreted
- TSH, T4, TS antibody
Frontal bossing and triangular facies, Warm lid retraction (eyes open) ●Irritability, hyperactivity, ●Tachycardia with a bounding pulse +/- cardiomegaly, arrhythmia hepatosplenomegaly
Baby born at home at 38 wks by midwife. Now presents at 7 days with melena. Hb 70, MCV 112, plts normal. What is the most likely diagnosis?
hemorrhagic disease of the newborn
2 day old newborn male with jitteriness. At birth he was found to have a cleft palate, but has been bottle feeding well since. harsh systolic murmur.
a. What is the most likely diagnosis?
b. What is the reason for the baby’s jitteriness?
22q11 deletion
hypocalcemia
immunodeficiency cleft palate hypocalcemia cardiac - VSD, right sided arch, TOF retrognathia, long face with prominent nose
Resp distress syndrome
CXR findings
ground glass lungs (bilateral symmetrical)
bell shaped thorax
air bronchograms
hyperinflation
Baby born at 41 wks. Meconium staining. Flat babe requiring resucc. Apgars 2 at 1 min 3 at 5 min and 6 at 7 min. what 5 things may you expect with this baby in the near future. What 2 tests at discharge, if normal would suggests a good neurological outcome for this child
thrombocytopenia seizures bradycardia, hypotension hypocalcemia resp distress
MRI, EEG
PDA - indomethacin side effects (4)
oliguria, dec GFR increased serum creatinine hypoNa, hyperK, hypoglycemia platelet dysfunction NEC GI bleeds/perforation
how to confirm HIV neg in vertical transmission in baby?
HIV DNA or RNA PCR is recommended for diagnosis <18 months of age.
reason-ably excluded with 2x negative PCR tests
- one beyond 1mo old
- 2nd beyond 2mo old
- if on AZT, one beyond 4 mo old
CONFIRM with serological assay between 18 and 24 months of age.
5h old kid. Normal wbc/hgb. Plt count 9. Name 3 causes other than sepsis.
NAIT (alloimmune)
Autoimmune thrombocytopenia
TAR
congenital platelet disorders
1 week kid with sats 80% not improving with 100% O2. Single S2, III/VI SEM at
LSB. Normal CXR and RVH/RAD on EKG. What is most likely cause.
pulmonary stenosis
4 non infectious cause of hearing loss
Syndromic
- AD: Waarenburg, Sticklers, NF2, Treacher Collins
- AR: Jervell Lange Neislon
- X linked - Alport
Congenital (mainly AR)
acquired - meningitis, ECMO, ventilation
neonatal toxoplasmosis
CSF findings
how to confirm
lymphocytic pleocytosis
elevated protein
PCR on CSF, blood, urine, tissue
Shwachman Diamond syndrome
AR inheritance exocrine pancreatitic insufficiency skeletal - metaphyseal dysplasia short stature hepatomegaly +/- LE anemia, neutropenia, or thormbocytopenia bacterial and funcal infections
Rx: fat malabsoption - similar to CF
G-CSF
allogenic HSCT
Which of the following findings would help to rule out Klinefelter syndrome:
testicle size 15ml (should be hypogondadism)
What is the most likely presentation of an inborn error of metabolism?
encepalopathy preceeding focal neuro deficit
5 mo with white forelock, 1 iris blue 1 brown. What next investigation would you do?
Waardenburg hearing!! AD, PAX-3 mutation 1/15,000 – 1/25,000 Heterochromia White forelock SNHL 15 - 25% Dystropia canthorum Wide nasal bridge, short palpebral fissures
A 3 month old is suspected of having an inborn error of metabolism, and has neurological and cardiac involvement. Which of the following can be given before a definitive diagnosis is made to prevent further sequelae:
b. Carnitine
Russell Silver syndrome (4)
IUGR/SGA GH def Short stature Hypoglycemia triangular face, normal HC cafe au lait normal IQ but difficulties
Smith lemi Opitz
AR defect with multiple congenital anomalies. Defect in final enzyme in sterol pathway that convers 7 DHC to cholesterol
Low serum plasma chol levels
microcpehay, second and third toe syndactylyl
IQ low
Cleft palate
Pierre Robin (3)
micrognathia, glossoptosis, and cleft palate
pul stenosis
eye, MSK anomalies
a 5 month old baby presents with a history of poor intake and occasional vomiting over the past 24 hours. You find that his glucose is 2.8. The remainder of his bloodwork is unremarkable. He has no ketones present on urinalysis.
List 2 ddx
FAOD
hyperinsulinemia`
WAGR
Wilms
ANiridia (absent iris)
GU anomalies
Retardation (ID)
Uniparental disomy
refers to the situation in which 2 copies of a chromosome come from the same parent, instead of 1 copy coming from the mother, and 1 copy coming from the father. Angelman syndrome (AS) -maternal deletion = Paternal UPD Prader-Willi syndrome (PWS) - paternal deletion = Maternal UPD 15q11
Duchenne 4 complications
cardiomyopathy - dilated cardiomyopathy, conduction
ortho - # of legs and arms, progressive scholiosis, osteoporosis
resp: nocturnal hypoventilation
nutrition – overweight or underweight
Marfan skeletal deformities (3)
Pectus carinatum Pectus excavatum Wrist & thumb sign Decreased U:L ratio Decreased elbow extension pes planus hindfoot deformity (valgus)
FASD facial feature (5)
short palpebral fissure increased intercanthal distance flattened face with short nose thin upper lip absent/hypoplastic filtrum bow shaped mouth
Turner syndrome
5 future complications
short stature primary amenorrhea cardiac - coarctation, HTN lymphedema GU - renal anomalies risk autoimmune - TSH q 1 -2 y
5 genetic syndromes predispose luekemia
Fanoni Shwachman Diamond SCID T21 NF1 ataxia telangiectasia Li Fraumeni Diamond Blackfan
angelman
15q11 - maternal deletion
Ataxia Speech severe IQ seizures microcephaly hypotonia, GDD paroxysms of laughter
Bardet Biedel
AR obesity intellectual disability pigmentary retinopathy hypogonadotropic hypogonadism cardiac - AS, VSD, etc renal anomalies, DI post axial polydactyly
Ehler Danlos
skin elasticity
easy bruising
hyperflexiability
sometimes tricuspid or mitral regurg. sometimes aortic root dilation
Osteogenesis imperfecta
5 findings
3 xray findings
blue sclera frontal bossing macrocephaly dentinogenesis imperfecta short stature sclerosis hearing loss easy #
Xray; osteopenia, thin cortices wormian bones (skull) saber shin (fibula anterior bow) coxa vera - femur head smaller angle