Niemann-Pick disease type C-presenting as persistent neonatal

This case emphasizes the need to keep NPD in differential diagnosis of children presenting with persistent neonatal jaundice, hepatosplenomegaly, failure to thrive. Neimann-Pick disease (NPD) is an autosomal recessive lysosomal storage disorder caused by inherited deficiency of acid sphingomyelinase enzyme or its transport which leads to deposition of sphingomylin and cholesterol in the lysosomes of reticuloendothelial system. It is characterized by failure to thrive, hepatospleenomeagaly and neurodegenerative changes. There are four subgroups of neimann pick disease, type A, B, C and D. Here authors are reporting a case of 5 months old female child presenting with persistent jaundice since neonatal period, progressive abdominal distention and failure to thrive. On examination patient had significant abdominal distension with moderate hepatosplenomegaly. On laboratory evaluation child diagnosed to have NPD type C. This case emphasizes the need to keep NPD in differential diagnosis of children presenting with persistent neonatal jaundice, hepatosplenomegaly, failure to thrive.

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database, BMC Neurology

A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis - ScienceDirect

IJMS, Free Full-Text

Natural history and management of liver dysfunction in lysosomal storage disorders

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

Niemann-Pick Disease Type C

Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report

Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child