Moyamoya syndrome with inherited proteins C and S deficiency: report of one case.

Moyamoya disease (MMD) is a vascular abnormality characterized by progressive narrowing of the internal carotid, middle, anterior and posterior cerebral arteries and the development of basal collaterals forming the classic angiographic appearance-moyamoya. Protein C (PC) and its cofactor, protein S (PS), which are vitamin-K dependent, act as inhibitors of coagulation cascade by inactivating factor Va and factor VIIIa and facilitating thrombolysis. Deficiencies of these proteins leading to a prothrombotic state increase the risk of ischemic cerebrovascular accident. Herein we report a 3-year-old girl, who had an acute onset of right-side hemiparesis during an episode of herpetic gingivostomatitis. She was noted to have moyamoya syndrome in the angiographic examination and was later proved to have inherited deficiencies of both PC and PS. She received warfarin medical treatment and then bilateral encephalo-duro-arterio-synangiosis (EDAS) and encephalo-myo-synangiosis (EMS) due to neurological deterioration and is now under the use of low molecular weight heparin for preventing further ischemic stroke. The motor deterioration improved after medical and surgical intervention. We conclude that coagulopathy like PC or PS deficiency should be considered in children presenting with moyamoya syndrome.