When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman

Abstract

Introduction: 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. Case Presentation: 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. Conclusion: 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.

Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

“…Recurrent episodes of infarction invariably result in the gradual deterioration of cerebral functions and finally culminate in dementia between the age of 30 and 45 years. Approximately 80% of CARASIL patients suffer from low back pain because of disk herniation and spondylosis deformans ( Al et al, 2022 ). The majority of heterozygous HTRA1 carriers were asymptomatic, and only a few patients were symptomatic ( Hara et al, 2009 ).…”