[A case of Turner's syndrome associated with moyamoya disease]

Abstract

A case of Turner's syndrome associated with Moyamoya disease in a 10-year-old female is presented. This patient had experienced two periods of syncope and transient right hemiparesis in 2 years. She was short in stature. She had cubitus vargus and mental retardation. The serum LH and FSH values were high. By chromosomal examination Turner's syndrome (karyotype: 45, X/46, X, i(Xq)) was diagnosed. An MRI (SE 2000/20) revealed abnormal vessels on the basal ganglia. Cerebral angiography showed occlusion of bilateral internal carotid arteries at the distal portion, bilateral posterior cerebral arteries at the proximal portion. Basal moyamoya well developed. EDAS (encephalo-duro-arterio-synangiosis) was performed bilaterally. We consider that this may be the first case report of Turner's syndrome associated with Moyamoya disease, and that there may be no relationship between Turner's syndrome and Moyamoya disease in this case.