Niemann Pick disease: a rare lysosomal storage disease
DOI:
https://doi.org/10.3329/bsmmuj.v15i2.60871Keywords:
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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Copyright (c) 2022 Gopen Kumar Kundu, Sk Serjina Anwar, Noor-A-Sabah Liza, Syeda Tabassum Alam, Sanjida Ahmed, Mohammad Arbab Sarker, Meher Nigar Nishi, Sharmina Afrin, Mohammad Abdul Quddus
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This work is licensed under a Creative Commons Attribution 4.0 International License.