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.

Adenosine A2A receptor stimulation restores cell functions and differentiation in Niemann-Pick type C-like oligodendrocytes

PDF] Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician

Clinical, Electrophysiological, and Serum Biochemical Measures of Progressive Neurological and Hepatic Dysfunction in Feline Niemann-Pick Type C Disease

Frontiers Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases

Niemann Pick Disease - Rivin

PDF) The adult form of Niemann-Pick type C

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

Cureus, Niemann-Pick Disease Type A: A Rare Disease With a Fatal Outcome

mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts

Niemann-Pick disease type C as a neurovisceral disease. Schematic

PDF) Niemann-Pick disease type C