An uncommon diagnosis of a common clinical presentation – Visceral Niemann–Pick disease

Abstract

Niemann–Pick (NP) disease is a diverse spectrum of disorders, autosomal recessive in nature, characterized by failure to thrive, visceral involvement in the form of hepatosplenomegaly and neurodegenerative changes. It is caused by an inherited deficiency of acid sphingomyelinase enzyme, leading to deposition of sphingomyelin and cholesterol within the lysosome of reticuloendothelial cells of various organs. We present a 16-month-old developmentally normal, well-grown girl with progressive, insidious onset abdominal distension, and no other symptoms. She was initially misdiagnosed as sepsis, but, on further evaluation was found to be genetically proven NP disease with autosomal recessive inheritance with sphingomyelin phosphodiesterase-1 gene positivity.