Niemann-Pick disease type C-presenting as persistent neonatal
Por um escritor misterioso
Descrição
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.
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
Niemann-Pick disease type C-presenting as persistent neonatal jaundice: a rare case report
Figure 1 from [Niemann Pick disease A: a case report].
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
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
Cureus, Niemann-Pick Disease Type A: A Rare Disease With a Fatal Outcome
Niemann Pick Disease - an overview
Niemann-Pick disease type C as a neurovisceral disease. Schematic
Figure 5 from Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
Niemann Pick Disease - Rivin
de
por adulto (o preço varia de acordo com o tamanho do grupo)
