Propionic acidemia in a male newborn with Noonan syndrome: a case report.
We report a case of preterm infant born with prenatal diagnosis of cystic hygroma in the neck and congenital heart defect. Physical exam showed a hypotonic infant with dysmorphic features. Noonan syndrome was diagnosed. This newborn presented with progressive encephalopathy leading to a workup for metabolic disorders. The findings of elevated glycine levels associated with ketosis prompted the diagnosis of propionic acidemia. This case demonstrates that metabolic disorders can co-exist with other genetic syndromes and a high index of suspicion is needed in order to make the diagnosis and determine available treatment options. Genetic counseling should be offered to the parents as these disorders may affect future.
University of Puerto Rico School of Medicine, Department of Pediatrics, Neonatology Section, San Juan, Puerto Rico.
Kary
K
Bouet
Israel
I
Matías
Inés
I
García
Lourdes
L
García
Maria C
MC
González
Marta
M
Valcárcel
D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009634:Noonan Syndrome / Q000150:complications*; D056693:Propionic Acidemia / Q000209:etiology*