• Siting Wu, Ning Zhao, Tingting Sun, Fang Cui, Xianli Sun, and Jiacai Lin.
• Department of Neurology, Hainan Hospital of Chinese PLA General Hospital, Sanya, China.
• Medicine (Baltimore). 2024 Mar 15; 103 (11): e37563e37563.

IntroductionCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one kind of monogenic hereditary small-vessel disease in the brain caused by mutations in the NOTCH3 gene. However, it is rare for CADASIL to recur with different clinical manifestations in 1 patient, and some atypical clinical manifestations can easily lead to misdiagnosis by clinical physicians.Case ConcernA 34-year-old male presented with transient speech disorder accompanied by weakness in the left side of the body for 1 day in June 2020. Magnetic resonance imaging showed acute ischemic infarction in right centrum semiovale, along with multiple abnormal white matter hyperintensities in the brain. Genetic sequencing identified a heterozygous mutation in the NOTCH3 gene. The patient experienced recurrent episodes in 2021 and 2023, with varying clinical symptoms including visual blurring, abnormal limb sensation, and sudden cognitive dysfunction.DiagnosisThe diagnoses of CADASIL is based on clinical manifestations, imaging results, and genetic reports.Intervision And OutcomesThe patient was received symptomatic treatment including antiplatelet aggregation therapy, lipid regulation, and plaque stabilization, resulting in improved symptoms.OutcomesDuring the course of the disease, after medication treatment and rehabilitation exercise, the patient clinical symptoms have significantly improved. Currently, the patient is closely following up and regularly undergoing relevant examinations.LessonsIn this rare case, we found that CADASIL can recur multiple times in a patient with different clinical symptoms, which can easily lead to clinical misdiagnosis. Clinicians should consider the possibility of CADASIL in young patients with sudden typical neurological dysfunction.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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