NICU and inborn errors

Question 0

Newborn with Hyperammonemia, respiratory alkalosis, elevated coags

Answer 0

Citrullinemia

Question 1

BPD without history of RDS or prolonged oxygen support

Answer 1

Wilson-mikity syndrome

Question 2

Components of BPP

Answer 2

NST (fetal mvmt, HR), breathing, tone, amniotic fluid

Question 3

Increased AFP

Answer 3

Renal disorders, neural tube defects, abdominal wall defects

Question 4

Newborn with lesions on skin, RD, pneumonia and mother with flu-like sx

Answer 4

Listeria

Question 5

Congenital toxo treatment

Answer 5

Pyrimethamine, sulfadiazine, folic acid

Question 6

Newborn with microcephalic, chorioretinitis, HSM, jaundice, maculopap rash, and ring enhancing lesions on MRI. How to diagnose?

Answer 6

Toxoplasmosis Diagnosis IFA

Question 7

Normal scalp pH

Answer 7

>= 7.25

Question 8

Most likely pulm complication of meconium aspiration

Answer 8

Persistent pulm HTN

Question 9

Crosses suture lines

Answer 9

Caput succedaneum

Question 10

Localized collection that does not cross suture lines

Answer 10

Cephalohematoma

Question 11

Maternal tocolytics such as terbutaline side effect:

Answer 11

Neonatal hyperinsulinism with hypoglycemia

Question 13

Microcephaly, rocker bottom feet, cleft lip/palate, absent radius, overlapping fingers, CHD

Answer 13

Trisomy 18/Edwards Syndrome

Question 13

Holoprosencephaly, cutis aplasia, polydactyly, cleft palate, heart disease

Answer 13

Trisomy 13 or Patau Syndrome

Question 14

What are the organic acidemias

Answer 14

Isovaleric, methylmalonic, propionic

Question 15

Elevated ammonia, high anion gap metabolic acidosis, ketosis

Answer 15

Organic acidemias dx with urine organic acids

Question 16

Hyperammonemia, alkalosis

Answer 16

Urea cycle defects

Question 17

Urea cycle disorder

Answer 17

Ornithine transcarbamylase deficiency

Question 18

X-linked metabolic disorders

Answer 18

OTC,

Question 19

Inheritance of fatty acid disorders

Answer 19

Autosomal recessive

Question 20

Diagnosis fatty acid disorders

Answer 20

Plasma acylcarnitine profile

Question 21

Hepatomegaly, hypoglycemia after fasting episodes. Negative reducing substances and ketones

Answer 21

Fatty acid defect (MCAD)

Question 22

Hepatomegaly, hypoglycemia, lactic acidosis, doll-like facies, very skinny limbs with protuberant abdomen

Answer 22

Glycogen storage disease type 1 = Von gierke

Question 23

Muscle glycogen storage diseases

Answer 23

Type 2, 5, 7. Names Pompe, mcArdle, tarui

Question 24

Hypoketotic hypoglycemia

Answer 24

Fatty acid defects

Question 25

Lactic acidosis, rash, alopecia, neuro sx

Answer 25

Biotinidase deficiency

Question 26

Looks like marfan + thrombosis, strokes. Light colored skin and hair and cognitive deficits

Answer 26

Homocystinuria

Question 27

Increased startle reflex, progressive neuro decline, cherry red spot

Answer 27

Tay Sach

Question 28

Sphingolipidoses/lipid lysosomal storage diseases

Answer 28

Gaucher, fabry, Krabbe, Tay Sach, Niemann Pick

Question 29

HSM, bone pain with lytic lesions, short stature, developmental regression

Answer 29

Gaucher disease

Question 30

Vascular skin lesions, pain crises, opacities of eyes, orange skin

Answer 30

Fabry disease (x-linked)

Question 31

Cherry red spot of retina, CNS deterioration, hepatosplenomegaly

Answer 31

Niemann-Pick disease

Question 32

Skin nodules, painful joints, cherry red spot on retina

Answer 32

Farber’s Disease

Question 33

X-linked mucopolysaccharidosis with organomegaly, pebbly skin, joint contractures

Answer 33

Hunter’s Syndrome

Question 34

Coarse facies, corneal clouding, hirsutism, HSM

Answer 34

Hurlers Syndrome

Question 35

Neonatal blistering skin rash that gives way to swirling pattern of skin hyper pigmentation. Mother with similar story. Inheritance?

Answer 35

Incontinentia pigmenti. X-linked dominant (lethal in males)