An Intriguing Case Report of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Case Report

Abstract

Introduction: A man in his early 60s presented with complaints of increased forgetfulness, emotional lability, pseudobulbar affect, and urinary incontinence. Methods: The patient was initially diagnosed with radiation microangiopathy with secondary demyelination disorder but had recurrent ischemic infarcts. Results: Genetic testing was positive for missense variation in EXON4 of the NOTCH 3 gene (chromosome 19). Conclusion: We report this rare case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Physicians must evaluate the patient for missense variation in EXON4 of the NOTCH 3 gene (chromosome 19).