Collodion baby with thrombocytopenia: A rare presentation of type 2 Gaucher disease

A 1-day-old girl born with a thin collodion membrane was found to have severe thrombocytopenia of 34,000 per microliter. The rare report of the perinatal-lethal subtype of Gaucher disease presenting as a collodion baby represented an explanation for both signs and we recommended early genetics investigation. In the ensuing week, NICU evaluation revealed fevers, bradycardia, hypotonia; labs showed transaminitis, hypoglycemia requiring a continuous glucose infusion; ultrasound discovered hepatosplenomegaly, mild ascites, echogenic kidneys, scoliosis, an atrial septal defect and dilated right ventricle.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Source Type: research