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A case of acid sphingomyelinase deficiency type B with prominent histiocytes with engulfed nucleated cells and compound heterozygosity.

Journal of hematopathology - 9 May 2025

Gedallovich Jodi, Rodriguez-Gil Jorge Luis, Martin Beth, Fernandez-Pol Sebastian

Abstract excerpt

Acid sphingomyelinase deficiency type B (ASMD-B), also known as Niemann-Pick type B (NPB), is caused by inherited mutations in acid sphingomyelinase that results in accumulation of sphingomyelin and other lipids in monocytes/macrophages leading to splenomegaly, hepatomegaly, and/or cytopenias that typically manifest in mid-childhood. Microscopic examination of bone marrow aspirate and core biopsy specimens...

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Identifiers

PMID: 40343567
DOI: 10.1007/s12308-025-00641-x

Genes

NPB
SMPD1

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