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

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
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
Series:Frontiers in Pediatrics
Subjects:
Gaucher disease
β-glucocerebrosidase
Mendelian inheritance
genetic testing
rare disease
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1628525/full
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