A Case Report of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Misdiagnosed as Multiple Sclerosis.
| Autor: | Aljaberi K; Neurology Department, Sheikh Shakhbout Medical City, Abu Dhabi, ARE., Ahli A; College of Medicine and Health Sciences, Khalifa University, Abu Dhabi, ARE., Palat Chirakkara SK; Neurology Department, Sheikh Shakhbout Medical City, Abu Dhabi, ARE., Shatila A; Neurology Department, Sheikh Shakhbout Medical City, Abu Dhabi, ARE. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2023 Jun 26; Vol. 15 (6), pp. e40986. Date of Electronic Publication: 2023 Jun 26 (Print Publication: 2023). |
| DOI: | 10.7759/cureus.40986 |
| Abstrakt: | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic disorder due to a NOTCH 3 mutation on chromosome 19 resulting in a small vessel disease that may mimic many other neurological disorders like migraine, stroke, transient ischaemic attack (TIA), dementia and psychiatric illnesses. The disease is confirmed by genetic testing and other investigations like MRI and skin biopsy are also helpful. Here, we present a 43-year-old male with a confirmed CADASIL through genetic testing, who was initially diagnosed as having multiple sclerosis due to recurrent attacks of focal neurological deficits in the form of weakness and vertigo and other progressive features like mental slowing and difficulties in performing the usual tasks at work, He had a strong family history of neurological illnesses from his mother's side that made us think of an alternative diagnosis. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Aljaberi et al.) |
| Databáze: | MEDLINE |
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