Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report
This is the first documented case of concurrent ASMD type A/B and Arnold-Chiari malformation. The clinical overlap in neurological manifestations complicates differential diagnosis and highlights the need for careful neuroimaging assessment in patients with ASMD presenting with atypical or progressive neurological symptoms. This unique co-occurrence may suggest a broader phenotypic spectrum or a coincidental association requiring further investigation.
Authors
- R. F. Rakhmaeva (ORCID: https://orcid.org/0000-0001-6107-2233)
- А. А. Камалова (ORCID: https://orcid.org/0000-0002-2957-680X)
- Deena M. Nasr (ORCID: https://orcid.org/0000-0002-2676-5779)
- G. I. Sageeva (ORCID: https://orcid.org/0000-0003-2856-5129)
- Ahmed Arafat (ORCID: https://orcid.org/0000-0002-6917-6480)
- Ayman Gobarah (ORCID: https://orcid.org/0000-0002-9638-279X)
- Adelina Raimova (ORCID: https://orcid.org/0000-0003-0656-5857)
- Е. А. Gaichik (ORCID: https://orcid.org/0009-0005-9071-9100)
- Rezeda Safiullina
Institutions
- Suez Canal University (EG)
- Dubai Health Authority (AE)
- Kazan State Medical University (RU)
- Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan (RU)
- Abu Dhabi Health Services (AE)
- Shanghai Xuhui Central Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-08-25
- DOI
- https://doi.org/10.3389/fped.2025.1649007
- Primary Topic
- Spinal Dysraphism and Malformations
- Type
- article
- Field-Weighted Citation Impact
- 0.00