When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman.
Journal
The neurologist
ISSN: 2331-2637
Titre abrégé: Neurologist
Pays: United States
ID NLM: 9503763
Informations de publication
Date de publication:
01 Jul 2023
01 Jul 2023
Historique:
medline:
10
7
2023
pubmed:
2
12
2022
entrez:
1
12
2022
Statut:
epublish
Résumé
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare autosomal recessive etiology of cerebral small-vessel disease. The bulk of CARASIL cases reported in the literature was from Japan and China. Herein, we report the first genetically confirmed case of CARASIL in the Arabic population. We present the case of a 35-year-old Bahraini woman diagnosed with an acute ischemic stroke after experiencing right-sided weakness and slurred speech. She had complained of persistent headaches, decreased memory, hair loss, joint pain, and personality changes. CARASIL was suspected on her medical history and brain imaging results, and genetic testing confirmed the diagnosis. This case contributes to our understanding of CARASIL, which is an extremely rare disease. It adds to the growing data on disease reporting outside China and Japan. We also report the first case of CARASIL in an Arabic patient and describe magnetic resonance spectroscopy finding partially different from what has been reported before.
Identifiants
pubmed: 36455066
doi: 10.1097/NRL.0000000000000476
pii: 00127893-990000000-00046
pmc: PMC10319243
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
262-265Informations de copyright
Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
Hara K, Shiga A, Fukutake T, et al. Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. N Engl J Med. 2009;360:1729–1739.
Chen Y, He Z, Meng S, et al. A novel mutation of the high temperature requirement: a serine peptidase 1(HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). J Int Med Res. 2013;41:1445–1455.
Uemura M, Nozaki H, Kato T, et al. HTRA1 -related cerebral small vessel disease: a review of the literature. Front Neurol. 2020;11:545.
Menezes Cordeiro I, Nzwalo H, Ferreira RB, et al. Shifting the CARASIL paradigm: report of a non-Asian family and literature review. Stroke. 2015;46:1110–1112.
Bianchi S, Di Palma C, Gallus GN, et al. Two novel HTRA1 mutations in a European CARASIL patient. Neurology. 2014;82:898–900.
Oluwole OJ, Ibrahim H, Garozzo D, et al. Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man. Neurol Genet. 2020;6:e382.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–423.
Nozaki H, Nishizawa M, Onodera O. Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke. 2014;45:3447–3453.
Fukutake T. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. Stroke Cerebrovasc Dis. 2011;20:85–93.
Nishimoto Y, Shibata M, Onodera O, et al. Neuroaxonal integrity evaluated by MR spectroscopy in a case of CARASIL. J Neuro, Neurosurg Psychiatry. 2011;82:860–861.
Oliveri RL, Muglia M, De Stefano N, et al. A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. Arch Neurol. 2001;58:1418–1422.
Farooq Sheikh AS, Mohamed MA. Magnetic resonance spectroscopy and magnetic resonance spectroscopic imaging in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a literature review. J Pak Med Assoc. 2017;67:912–916.