Publication:

A novel mutation of Niemann-pick disease: a case report

Niemann-Pick Disease (NPD) is a well-known entity among the rare causes of   lysosomal storage disorders (LSD) and constitutes a significant public health burden globally. The incidence of NPD is 1 in 250,000 individuals with a high prevalence in Ashkenazi Jewish descent, affecting 1 in 40,000 individuals. We report a novel and hitherto unreported. Here we report a case of NPD in a 6 months old male child presented to our hospital with unexplained hepatosplenomegaly with cherry red spots on fundoscopy and with history of death of previous two siblings. The diagnosis of NPD was proven by whole exome sequencing (WES) with identification of novel mutation, homozygote missense variant c.500G>C in exon 2 of sphingomyelin phosphodiesterase 1 (SMPD1) gene that results in the amino acid substitution pCys167Ser. The patient was kept under management of multidisciplinary team. Age of presentation, hepatosplenomegaly, presence of cherry red spots was typical for NPD type A. We report a rare homozygote mutation in the SMPD1 gene.