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Case Reports
. 2019 Apr 21:2019:3108093.
doi: 10.1155/2019/3108093. eCollection 2019.

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder

Inusha Panigrahi  1 , Manoj Dhanorkar  1 , Renu Suthar  1 , Chanchal Kumar  1 , Mullai Baalaaji  1 , Babu Ram Thapa  2 , Jasvinder Kalra  3
Affiliations
Case Reports

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder

Inusha Panigrahi et al. Case Rep Genet. .

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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Figures

Figure 1
Figure 1
Representation of the novel 4 bp insertion mutation in SMPD1 gene in exon 2 in family 2 in parental sample.
See this image and copyright information in PMC

References

    1. Verma I. C., Kumar D. Epidemiology of genetic diseases. In: Kumar D., editor. Genetic Disorders of the Indian Subcontinent. Dordrecht, Netherlands: Springer; 2004. pp. 81–87.
    1. Sheth J., Mistri M., Sheth F., et al. Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. JIMD Reports. 2014;12:51–63. doi: 10.1007/8904_2013_244. - DOI - PMC - PubMed
    1. Chen X., Qiu W., Ye J., Han L., Gu X., Zhang H. Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China. Journal of Human Genetics. 2016;61(4):345–349. doi: 10.1038/jhg.2015.155. - DOI - PubMed
    1. Sheth J., Bhavsar R., Mistri M., et al. Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC Medical Genetics. 2019;20(1):p. 31. doi: 10.1186/s12881-019-0759-1. - DOI - PMC - PubMed
    1. Meikle P. J., Hopwood J. J., Clague A. E., Carey W. F. Prevalence of lysosomal storage disorders. Journal of the American Medical Association. 1999;281(3):249–254. doi: 10.1001/jama.281.3.249. - DOI - PubMed

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