When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease: CARASIL in an Arabic Woman
December 2022
in “
The Neurologist
”
TLDR CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
This case report described the first confirmed instance of CARASIL (Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) in an Arabic woman, highlighting its rarity and the genetic mutation involved. CARASIL is a rare autosomal recessive disorder characterized by early-onset subcortical infarcts, progressive cognitive impairment, alopecia, and spondylosis, caused by mutations in the HTRA1 gene. The 35-year-old patient presented with recurrent strokes, cognitive decline, and alopecia, and genetic testing confirmed the HTRA1 mutation. MRI findings showed characteristic brain changes, and the patient was treated with antiplatelet therapy, which prevented further symptomatic strokes. The report emphasized the importance of distinguishing CARASIL from similar conditions like CADASIL and noted differences in magnetic resonance spectroscopy (MRS) findings compared to previous cases. There is no curative treatment for CARASIL, and management focuses on stroke prevention and supportive care.
