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 - an overview

Figure 5 from Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.

Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages - ScienceDirect

Niemann–Pick disease, type C - Wikipedia

Figure 5 from Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.

Prenatal-Onset Niemann–Pick Type C Disease with Nonimmune Hydrops Fetalis - ScienceDirect

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

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

Niemann–Pick Disease Type C

Niemann-Pick disease type C

Niemann-Pick disease type C symptomatology: an expert-based clinical description, Orphanet Journal of Rare Diseases