Infantile Cholestatic Jaundice: A Variant of Niemann-Pick Disease Type C2

Niemann-Pick disease is an autosomal recessive lysosomal lipid storage disorder disease caused by mutations in either Niemann-Pick disease type C1 (NPC1) or the NPC2 gene. It has a wide range of symptoms that vary in severity, classified into three main types: A, B, and C1 and C2, based on genetics and the symptoms and signs. The usual presentation in the neonatal period is cholestatic jaundice, subsequently, it will develop hepatosplenomegaly in infancy, failure to thrive, ataxia, hypotonia, seizure, difficulty in speech, swallowing, and recurrent respiratory tract infection. In this case report, we describe the case of a five-month-old infant presenting with jaundice, developmental delay, and hepatosplenomegaly, and the diagnosis was confirmed by whole exome sequencing. The current treatment regimen includes frequent monitoring of liver function with symptomatic management like speech therapy, and nutritional therapy.