Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction
MRI plays a key role in the early diagnosis of CA-VA deficiency, because brain abnormalities are expected and often exhibit features suggestive of an underlying UCD. Furthermore, neuroimaging may serve as a valuable prognostic marker, directly impacting clinical decision-making, management, and follow-up strategies.
Authors
- Diego Cardoso Fragoso (ORCID: https://orcid.org/0000-0002-8458-428X)
- Edward Yang (ORCID: https://orcid.org/0000-0002-9912-4163)
- Khalid Al‐Thihli (ORCID: https://orcid.org/0000-0001-7518-4615)
- Pilar Quijada‐Fraile (ORCID: https://orcid.org/0000-0003-1026-4854)
- Cesar Alves (ORCID: https://orcid.org/0000-0001-5877-9086)
- Felice D’Arco (ORCID: https://orcid.org/0000-0001-7396-591X)
- Asthik Biswas (ORCID: https://orcid.org/0000-0003-2010-9524)
- Eiman Al‐Ajmi (ORCID: https://orcid.org/0000-0002-6162-3602)
- Kshitij Mankad (ORCID: https://orcid.org/0000-0001-5979-9337)
- Olaf A. Bodamer (ORCID: https://orcid.org/0000-0002-7847-552X)
- Anne O’Donnell‐Luria (ORCID: https://orcid.org/0000-0001-6418-9592)
- Lance H. Rodan
- Agustín M. Cárdenas (ORCID: https://orcid.org/0000-0003-3524-741X)
- Fathiya Al-Murshedi
- Sniya Sudhakar
Institutions
- Boston Children's Hospital (US)
- Great Ormond Street Hospital (GB)
- Hospital Universitario 12 De Octubre (ES)
- Sultan Qaboos University Hospital (OM)
- University College London (GB)
Publication Details
- Journal
- American Journal of Neuroradiology
- Published
- 2025-09-29
- DOI
- https://doi.org/10.3174/ajnr.a8948
- Primary Topic
- Ion Transport and Channel Regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.00