Moyamoya disease in a patient with type I glycogenosis.
A 17-year-old boy with type I glycogen storage disease (GSD-I) and a stroke associated with moyamoya disease is described. This is the first report of this association, and only the second reported case of cerebrovascular disease in patients with GSD-I. The relationship of the primary metabolic error and the vascular injury is explored. This represents yet another disorder associated with moyamoya disease, which is considered to be a secondary phenomenon of vascular occlusion that occurs under a specific set of circumstances in a susceptible age group.
D000293:Adolescent; D001157:Arterial Occlusive Diseases / Q000473:pathology*; D001808:Blood Vessels / Q000473:pathology; D006008:Glycogen Storage Disease / Q000150:complications / Q000473:pathology*; D006801:Humans; D008297:Male; D009072:Moyamoya Disease / Q000150:complications / Q000473:pathology*