유전성 구상적혈구증에 동반된 Moyamoya 증후군 1례

A Case of Moyamoya Syndrome Associated With Hereditary Spherocytosis

저자들은 편측 부전마비와 안면 창백을 주소로 내원한 6년 8개월된 여아에서 임상 소견과 함께 특징적인 검사실 소견 및 방사선학적 소견 등을 통하여 유전선 구상적혈구증에 동반된 moyamoya증후군으로 진단하고 보존적 치료와 수술을 시행하여 증상이 다소 호전된 상태로 추적 관찰중인 증례를 경험하였기에 이를 문헌 고찰과 함께 보고하는 바이다. 소아에서 발생한 moyamoya 병의 경우 유전적인 소인이나 후천적 원인에 동반되었을 가능성을 고려하여 상세한 진찰이 필요할 것으로 사료된다.

Moyamoya is a chronic cerebrovascular disease characterized by progressive stenosis or occlusion of the terminal parts of both internal carotid arteries with telangiectatic vascular network of collateral circulation at the base of the brain and leptomeningeal arteries. The etiology and pathophysiology of this disease are still unknown. Although the idiopathic presentation is the commonest, moyamoya disease has also been reported in several hereditary or acquired clinical conditions including neurofibromatosis, sickle cell anemia, tuberculous meningitis, atherosclerosis, and following radiation therapy to the head. The term moyamoya disease should be reserved for those cases in which the characteristic angiographic pattern is idiopathic; moyamoya syndrome is used when the underlying condition is known. We have experienced a case of coexistence of moyamoya syndrome and hereditary spherocytosis in a 6-year-8-month-old girl who presented with right-sided hemiparesis and pallor. 4 cerebral angiogram revealed occlusion of proximal portion of left middle cerebral artery and abnormal collateral network. The peripheral blood smear and osmotic fragility test disclosed hereditary spherocytosis. To our knowledge, the coexistence of moyamoya syndrome and hereditary spherocytosis has not been documented. We report here the case and the brief review of related literatures. Further studies are needed to clarify the intimate relationship between the two diseases.