尼曼匹克病1例报告

Shareen Khan, F. Jolly, Md. Abdullah Al Baki, J. Nahar, F. Mohsin, T. Begum, N. Nahar
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摘要

尼曼匹克病是一种罕见的婴儿溶酶体贮积病,是由于鞘磷脂在身体各组织中积累而发生的。这导致发育不良,器官肿大和神经退行性退化。这种疾病在东南亚并不常见,我们在这里介绍这个病例,因为它在孟加拉国很少发现。[J]孟加拉大学物理外科2022;40: 209 - 212
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Niemann Pick Disease: A Case Report
Niemann Pick disease is a rare lysosomal storage disease of infancy which occurs due to accumulation of sphingomyelin in various tissues of the body. This leads to characteristic features of failure to thrive, marked organomegaly and neurodegenerative regression. The disease is uncommon in South East Asia and here we present this case as it is rarely found in Bangladesh. J Bangladesh Coll Phys Surg 2022; 40: 209-212
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