Ischemic stroke in an adolescent with arterial tortuosity syndrome

Arterial tortuosity syndrome is a rare condition characterized by tortuosity and elongation of the major arteries.1 This syndrome has phenotypic heterogeneity, but common findings include arachnodactyly, joint and skin laxity, and arterial stenoses.1 The mode of inheritance is autosomal recessive, and recent studies have mapped the gene to chromosome 20q13.1 Histologically, arteries in patients with arterial tortuosity syndrome show disruption of elastic fibers and fragmentation of the internal elastic membrane.2 Together, the clinical presentation and histologic findings suggest this syndrome is a connective tissue disorder. Although other connective tissue disorders have been linked to stroke,3 arterial tortuosity syndrome and ischemic stroke are not commonly associated. A 14-year-old right-handed African American girl presented after several hours of right arm posturing and decreased verbal output. A week earlier she experienced similar symptoms lasting 10 minutes. She had a history of congenital rectal prolapse, colonic diverticulosis, and iron deficiency anemia. She was on no medications, had no family history of early onset vascular disease, and denied drug use. She had a normal heart rate and …