Niemann Pick disease: a rare lysosomal storage disease

Authors

  • Gopen Kumar Kundu Department of Pediatric Neurology, Bangabandhu Sheikh Mujib medical University, Dhaka
  • Sk Serjina Anwar Department of Pediatric Neurology, Bangabandhu Sheikh Mujib medical University, Dhaka
  • Noor A Sabah Liza Department of Pediatric Neurology, Bangabandhu Sheikh Mujib medical University, Dhaka
  • Syeda Tabassum Alam Department of Pediatric Neurology, Bangabandhu Sheikh Mujib medical University, Dhaka
  • Sanjida Ahmed Department of Pediatric Neurology, Bangabandhu Sheikh Mujib medical University, Dhaka
  • Mohammad Arbab Sarker Department of Pediatric Neurology, Bangabandhu Sheikh Mujib medical University, Dhaka
  • Meher Nigar Nishi Department of Pediatric Neurology, Bangabandhu Sheikh Mujib medical University, Dhaka
  • Sharmina Afrin Department of Pediatric Neurology, Bangabandhu Sheikh Mujib medical University, Dhaka
  • Mohammad Abdul Quddus Department of Pediatric Neurology, Bangabandhu Sheikh Mujib medical University, Dhaka

DOI:

https://doi.org/10.3329/bsmmuj.v15i2.60871

Keywords:

Niemann Pick Disease, Sphingomyelinase, Lysosomal Storage Disease.

Abstract

Niemann Pick Disease (NPD) is a rare autosomal recessive lysosomal storage disease characterized by lysosomal lipid storage. The disease is caused by deficiency of enzyme, acid sphingomyelinase (ASM) which leads to accumulation of sphingomyelin & other lipids in reticuloendothelial cells of various organs like liver, spleen, bone marrow, lymph node, brain, nerves and kidney. Four types of the disease have been identified i.e. A, B, C and D. We report a case of Niemann Pick Disease type C. The patient was a 2.5 years female child who presented with developmental regression, recurrent seizures, failure to thrive and hepatospleenomegaly. Bone marrow (BM) aspiration was performed which showed hypercelluler marrow with few fat laden macrophage resembling foam cell that are characteristics of this disease.

BSMMU J 2022; 15(2): 141-144

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Published

2023-01-16

How to Cite

Kundu, G. K., Anwar, S. S., Liza, N. A. S., Alam, S. T. ., Ahmed, S., Sarker, M. A., Nishi, M. N. ., Afrin, S., & Quddus, M. A. (2023). Niemann Pick disease: a rare lysosomal storage disease. Bangabandhu Sheikh Mujib Medical University Journal, 15(2), 141–144. https://doi.org/10.3329/bsmmuj.v15i2.60871

Issue

Section

Case Report

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