Neonatal

Question 1

Neonatal polycythemia definitions and presentation

Answer 1

hyper viscosity syndrome: jitteriness that progresses to seizure activity from thrombus formation in cerebral microcirculation

Question 2

Choanal Atresia

diagnosis method?

Answer 2

upper airway obstruction where cyanosis worsens with feeding but improves with crying

• shove catheter up nose to pharynx and failure means positive test

Question 3

galactosemia

Answer 3

GALT deficiency where you cannot take products with lactose or galactose

= avoid breastmilk

Question 4

galactosemia sx

Answer 4

failure to thrive, feeding problems, diarrhea,
increased risk of e.coli sepsis
developmental delay
cataracts

Question 5

glycogen storage disease type I
- VonGierke’s caused by?

symptoms, treatment?

Answer 5

G6PD deficiency
- can’t process glycogen so it accumulates

Features: hypoglycemia, lactic acidosis, hepatomegaly, hyperuricemia, hyperlipidemia, short stature, cherubic face

may develop hepatocellular carcinoma

tx: frequent feedings with complex carbs and cornstarch

Question 6

Glycogen storage type 2
- Pompe Disease

Answer 6

alpha-glucosidase deficiency: enzyme performs glycogenolysis
-presents in first 2 months

-myopathy=> hypotonia => respiratory insufficiency, early death, FTT (elevated CK)
-cardiomegaly ( hypertrophic cardiomyopathy), conduction blocks, wide QRS
- macroglossia, hepatomegaly, intracranial aneurysm

tx: supportive care and enzyme replacement

Pompe Punishes PumP liver and muscle

Question 7

Hereditary fructose intolerance

Answer 7

aldolase B-deficiency

diarrhea, bloating, and pain, whir they eat fructose or sucrose

avoid fructose

Question 8

this patient most likely has

Answer 8

downs syndrome

Question 9

congenital diaphragm hernia

Answer 9

impaired development causes displacement of abdominal contents into pleural cavity

• liver protectis R hemidiaphragm so most occur on the left side@

Features: scaphoid abdomen, respiratory distress, bowl sounds in chest

Question 10

Peronie disease

Answer 10

penile curvature seen after trauma

Question 11

hypospadias is chracterized by

Answer 11

incompletely formed foreskin and
chordee (ventral curvature of penis)

Question 12

hydrocele

Answer 12

accumulation of fluid surround testicle

Question 13

congenital hypothyroidism signs and symptoms

Answer 13

large fontanelle/delayed closure
umbilical hernia, distended abdomen, prolonged jaundice (“ > 7 days)

constipation, decreased activity
hair loss, cold intolerance, hoarse cry, goiter

Question 14

brachial plexus injury can be accompanied by

Answer 14

ipsilateral phrenic nerve paralysis - shows as labored breathing nf seesaw movement of diaphragm during respiration

Question 15

potter sequence

Answer 15

pulmonary hypoplasia due to oligohyramnios, wide spaced eyes, low set ears, broad nose, receiving chin, limb abnormalities

Question 16

waardenberg syndrome

Answer 16

autosomal dominant
- lateral displacement of medial acanthi, broad nasal bridge, medial hyperplasia, partial albinism ( white forelock or heterchromia), deafness

Question 17

Wilms Tumor

Answer 17

renal malginanacy characterized by WAGR

Wilms Tumor, Aniridia, Genoitourinary anomalies, Range if intellectual disability

Question 18

SSTURGGE Weber

Answer 18

Sporadic, port-wine Stains Tram-Track calcifications, Unilateral, REcurrecent strokes, or seizures, Glaucoma, GNAQ gene, Epilepsy

Question 19

Herald patch, followed by diffuse rash of upper trunk and extremities 5-10 days later
- lesion: oval round, slightly raised, pink and covered in a scale

What is this?

Answer 19

pityriasis rosea

Question 20

IgA vasculitis

Answer 20

deposition of IgA immune complexes in vascular walls

occurs 1-3 weeks after an infection ie URI
characterized by PAPAH
Puprura,
Abdominal Pain (colicky)
Arthritis/arthralgia
Hematuria

platelet levels are normal or elevated

Question 21

encopresis

Answer 21

inappropriate passage of stool due to chronic constipation and overflow incotinence o without constipation

Question 22

bronchopulmonary dysplasia

Answer 22

neonate who needs O2 age 28 days or older
what happens:
- reduced number and separation of alveoli
-disrupted vasculogenesis

Question 23

treatment for congenital long qt syndrome

Answer 23

beta blocker : propranolol and nadolol

Question 24

in kids this is a sign of

Answer 24

child abuse

Question 25

what is this and how should it be treated?

stable vitals, not bothered by rash, no rashes else ware

Answer 25

neonatal cephalic pustulosis (neonatal acne)
- soap and water, if it doesn’t work topical steroids/ ketoconazole