COL4A1/2 CNVs and cerebral small vessel disease Narrowing in on the critical chromosomal region

摘要

A nonsmoking 39-year-old man was referred to Medical Genetics for recurrent cerebrovascular accidents (CVAs). He presented at 34 years of age with isolated left-sided weakness. Brain MRI and CT revealed acute infarction in the right medulla over a background of extensive lacunar infarcts and hyperintense periventricular white matter signals. Cerebral angiogram, transesophageal echocardiogram, Holter monitor, thrombotic workup, glucose, cholesterol, lipid profile, and blood pressure were normal. The patient was started on Plavix, Lipitor, and Baclofen. Four months later, he developed new symptoms with MRI showing novel acute infarction in the right anterior medulla.