Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report

BackgroundAcid sphingomyelinase deficiency (ASMD) type A/B, a rare lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene, presents with variable visceral and neurological manifestations. Arnold-Chiari malformation is a structural defect of the cerebellum and brainstem with disti...

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Bibliographic Details
Main Authors: Aelita Kamalova, Razilya Rakhmaeva, Gulnara Sageeva, Rezeda Safiullina, Adelina Raimova, Elena Gaichik, Dalal Nasr, Ayman A. Gobarah, Ahmed Arafat
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Pediatrics
Subjects:
Arnold-Chiari anomaly
children
acid sphingomyelinase deficiency (ASMD) type A/B
lysosomal diseases
central nervous system (CNS)
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1649007/full
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