NICU and inborn errors Flashcards
Newborn with Hyperammonemia, respiratory alkalosis, elevated coags
Citrullinemia
BPD without history of RDS or prolonged oxygen support
Wilson-mikity syndrome
Components of BPP
NST (fetal mvmt, HR), breathing, tone, amniotic fluid
Increased AFP
Renal disorders, neural tube defects, abdominal wall defects
Newborn with lesions on skin, RD, pneumonia and mother with flu-like sx
Listeria
Congenital toxo treatment
Pyrimethamine, sulfadiazine, folic acid
Newborn with microcephalic, chorioretinitis, HSM, jaundice, maculopap rash, and ring enhancing lesions on MRI. How to diagnose?
Toxoplasmosis Diagnosis IFA
Normal scalp pH
>= 7.25
Most likely pulm complication of meconium aspiration
Persistent pulm HTN
Crosses suture lines
Caput succedaneum
Localized collection that does not cross suture lines
Cephalohematoma
Maternal tocolytics such as terbutaline side effect:
Neonatal hyperinsulinism with hypoglycemia
Microcephaly, rocker bottom feet, cleft lip/palate, absent radius, overlapping fingers, CHD
Trisomy 18/Edwards Syndrome
Holoprosencephaly, cutis aplasia, polydactyly, cleft palate, heart disease
Trisomy 13 or Patau Syndrome
What are the organic acidemias
Isovaleric, methylmalonic, propionic
Elevated ammonia, high anion gap metabolic acidosis, ketosis
Organic acidemias dx with urine organic acids
Hyperammonemia, alkalosis
Urea cycle defects
Urea cycle disorder
Ornithine transcarbamylase deficiency
X-linked metabolic disorders
OTC,
Inheritance of fatty acid disorders
Autosomal recessive
Diagnosis fatty acid disorders
Plasma acylcarnitine profile
Hepatomegaly, hypoglycemia after fasting episodes. Negative reducing substances and ketones
Fatty acid defect (MCAD)
Hepatomegaly, hypoglycemia, lactic acidosis, doll-like facies, very skinny limbs with protuberant abdomen
Glycogen storage disease type 1 = Von gierke
Muscle glycogen storage diseases
Type 2, 5, 7. Names Pompe, mcArdle, tarui
