| Autor: |
Chang Y. Ho, MD, Harrison L. Love, MSIV, Deborah K. Sokol, MD, Laurence E. Walsh, MD |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Radiology Case Reports, Vol 16, Iss 6, Pp 1276-1279 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1930-0433 |
| DOI: |
10.1016/j.radcr.2021.02.052 |
| Popis: |
Pathogenic CACNA1A gene variants are associated with a spectrum of disorders including migraine with or without hemiplegia, ataxia, epilepsy, and developmental disability. We present a case of a pathogenic variant (c.4046G>A, p.R1349Q) in the CACNA1A gene associated with a clinical phenotype of global developmental delay, left hemiparesis, epilepsy, and stroke-like episodes. Longitudinal neuroimaging demonstrates hemispheric encephalomalacia with mismatched perfusion and angiographic imaging, in addition to progressive cerebellar atrophy. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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