AUTOSOMAL-DOMINANT CEREBRAL ARTERIOPATHY - NEUROPSYCHIATRIC SYNDROME IN A FAMILY

Though familial vascular leukoencephalopathy was described two decades ago, recent studies focus on a disorder termed Cerebral Autosomal Dom inant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ( CADASIL), a dominantly inherited disorder causing recurrent strokes an d eventual dementia. The phenotypic boundaries of CADASIL remain indis tinct and novel clinical features continue to arise in the literature. However, the associated histopathology is fairly consistent, typicall y demonstrating granular thickening of cerebral arterioles. The author s evaluated a 38-year-old man who suffered from progressive change in personality and intellect. His father, paternal aunt, and older sister had succumbed to a similar disorder. The authors examined relatives f rom three generations, including another sister with transient focal s ymptoms followed by persisting psychiatric disorder, and reviewed the radiographic studies from the propositus and his siblings. All the sib lings showed diffuse white matter signal change on magnetic resonance imaging. Brain biopsy from the propositus revealed normal cortex and w hite matter but granular sclerosis of leptomeningeal arterioles. While the family's illness likely represents another instance of CADASIL, t heir presentation is unique because neuropsychiatric disorders predomi nate over focal ischemic symptoms.