Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report

A 2-year-old patient was admitted to our hospital with hepatosplenomegaly as the prominent clinical feature. Peripheral blood analysis during hospitalization revealed trilineage cytopenia. Bone marrow cytology examination demonstrated abundant suspected Gaucher cells. Full-spine MRI exhibited wideni...

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Bibliographic Details

Published in:	Frontiers in Pediatrics
Main Authors:	Mengting Ma, Nan Wu, Jie Feng, Xu Sang, Feixiang Duan, Congcong Li, Qiang Zhang
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-07-01
Subjects:	Gaucher disease β-glucocerebrosidase Mendelian inheritance genetic testing rare disease
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2025.1628525/full