Neonatal Jaundice with Splenomegaly: Not a Common Pick.

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. PMID: 26847548 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research