Newborns Flashcards
SGA, cataracts, mircopthalmia, myocarditis with red or purple rash (blueberry). What congenital infection causes this?
Rubella
PDA or pulmonary artery stenosis common in this infection
Rubella
what do you see on labs in babies with congenital rubella
hemolytic andemia, thrombocytopenia, elevated LFTs adn pleocytosis of spinal fluid
What are s/sx of baby with congenital HSV
isolated CNS involvement, isolated cutaneous infection or systemic generalized infection. Tx is w/ acyclovir and have high morbidity if CNS is involved
Hydrocephalus, Chorioretinitis and incracranial calcifications seen in what congenital infection
Toxoplasmosis; has classic triad of sx
Multiorgan involvement with IUGR, hepatosplenomegaly, jaundice and petichae or purpura. What cong dx?
CMV
Microcephaly, chorioretinitis and intracranial calcification often have sensorineural hearing loss
CMV
What enZ is missing galactosemia?
What organ damage occurs in these babies?
How do they present?
galactose 1 phosphate uridyl transferase deficiency; accumulate galactose-1-P in tissue w/ damage to liver, brain, eyes after getting fed milk w/ lactose
Present w/ lethargy, diarrhea, hypotonia, hepatomegaly, FTT
What causes PKU? How do you tx it?
missing enZ to take Phe–> tyrosine; accumate metabolites in blood and leads to smelly kid with MR. Diet low in phenylalanine
What other conditions present with Wilms tumor?
Aniridia and hemihypertrophy. often have abdominal mass and may present w/ HTN, hematuria
Patient has white forelock, lateral displacement of medila canthi and medial hyperplasia of eyebrows. What is the dx and what other feature is often present?
Waardenburg syndrome; deafness occurs with it
Patient with port wine stain is at risk for what other condition?
Sturge-Weber; risk for seizures! have vascular malformation on trigeminal nerve. Also have hemiparesis or hemianopsia on contralateral side
Baby with hypopigmented lesions has what disease?
What associated sxs are present?
What is inheritance?
Ash leaf; seen in tuberous sclerosis
-Have myoclonic seizures or grand mal seizures later; adenoma sebaceum seen at 4–7 yo; affect eyes, kidneys, heart bones and lung with Autosomal dominant inheritance
newborn with squishy head and OFC that increases rapidly
subgaleal or subaponeurotic hemorrhage; infants lose large volume blood into this potential space; feels like cephalohematoma as it crosses midline
soft tissue swelling at the scalp involving the delivery portion of head. My have ecchymosis and extends across suture lines
Caput Succedaneum
