title: Neonatal Jaundice with Splenomegaly: Not a Common Pick.
abstract: The most common conditions causing cholestatic jaundice in infants are biliary atresia, neonatal hepatitis, and Alagille syndrome. In these disorders, the clinical presentation includes jaundice, pale stools, dark urine and hepatomegaly. Splenomegaly is not an early feature since it is due to portal hypertension, a later event. The finding of cholestatic jaundice and a large spleen usually raises the suspicion of Niemann-Pick type C disease (NP-C), a lysosomal storage disorder. We present and discuss here a case of an infant with liver disease and splenomegaly that were not ascribed to NP-C, but to Gaucher disease type 2. Liver biopsy, enzymatic studies and whole exome sequencing allowed to make the diagnosis. Although rare, Gaucher disease can cause neonatal hepatitis. A prompt recognition is advocated.
authors: a Pediatric Department , Hospital Papa Giovanni XXIII , Bergamo , Italy.
authors: Giacomo
authors: G
authors: Gotti
authors: a Pediatric Department , Hospital Papa Giovanni XXIII , Bergamo , Italy.
authors: Antonio
authors: A
authors: Marseglia
authors: b Pediatric Department , Hospital Niguarda Ca' Granda , Milan , Italy.
authors: Costantino
authors: C
authors: De Giacomo
authors: c Genetics Department , Hospital Papa Giovanni XXIII , Bergamo , Italy.
authors: Maria
authors: M
authors: Iascone
authors: a Pediatric Department , Hospital Papa Giovanni XXIII , Bergamo , Italy.
authors: Aurelio
authors: A
authors: Sonzogni
authors: a Pediatric Department , Hospital Papa Giovanni XXIII , Bergamo , Italy.
authors: Lorenzo
authors: L
authors: D'Antiga
mesh_terms: D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000209:etiology*; D013163:Splenomegaly / Q000209:etiology*
keywords: gaucher disease; lysosomal storage disease; neonatal hepatitis