Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder

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ID: 7950
2019
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Abstract
Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed. With the high incidence of consanguineous marriages, South East Asian countries are expected to have high prevalence of these LSDs. Here we report 4 cases of NPD type A/B in 3 families presenting with hepatosplenomegaly and cytopenias including one family with two sibs having hypertension and mitral valve prolapse. The diagnosis of NPD was proven by mutation analysis with identification of novel mutations, including a novel 4 bp insertion mutation (C>CCTGG) in exon 2 of the SMPD1 gene. We also had two cases of NPD type C, confirmed on mutation analysis.
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inusha2019niemannpickcase Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Panigrahi, Inusha;Dhanorkar, Manoj;Suthar, Renu;Kumar, Chanchal;Baalaaji, Mullai;Thapa, Babu Ram;Kalra, Jasvinder;Panigrahi, Inusha;Dhanorkar, Manoj;Suthar, Renu;Kumar, Chanchal;Baalaaji, Mullai;Thapa, Babu Ram;Kalra, Jasvinder;
Journal case reports in genetics
Year 2019
DOI
10.1155/2019/3108093
URL
https://www.hindawi.com/journals/crig/2019/3108093/abs/
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