Niemann-Pick disease type C-presenting as persistent neonatal
Por um escritor misterioso
Last updated 29 março 2025

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.

Hepatocellular carcinoma as a complication of Niemann‐Pick disease type C1 - Rodriguez‐Gil - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

Central sleep apnea and daytime sleepiness in Niemann-Pick type C disease: a report of 2 cases

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

IJMS, Free Full-Text

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

Baby from Merthyr Tydfil born with rare genetic condition with no cure

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

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR), Orphanet Journal of Rare Diseases

Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele - Julia Jecel, Klaus Harzer, Eduard Paschke, Stefanie Beck-Wödl, Peter Bauer, Milos

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

Full article: New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
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