陣發性夜間血紅素尿合併Moyamoya症候群

Moyamoya Syndrome in a Patient with Paroxysmal Nocturnal Hemoglobinuria

Moyamoya 疾病是一個罕見的腦血管病變，特徵是內頸動脈（internal carotid artery）遠端及前、中大腦動脈近端發生漸進式狹窄或阻塞，因補償作用而發展出廣泛性網狀側支血管（collateral network）。陣發性夜間血紅素尿（paroxysmal nocturnal hemoglobinuria）也是一個罕見的血液疾病，特徵是間歇性溶血（homelysis），泛血球減少性貧血（pancytopenia）及血管栓塞（intravascular thrombosis），雖然大部份是靜脈栓塞，但也有少部份是動脈栓塞。此篇報導一位41歲男性病人為陣發性夜間血紅素尿合併moyamoya症候群的罕見病例，並提醒我們看到年輕病人，同時有貧血及腦中風時，要排除陣發性夜間血紅素尿及moyamoya疾病的可能。

Moyamoya disease is a rare cerebral vasculopathy characterized by occlusion of the supraclinoid portion of the internal carotid artery and proximal portions of the anterior and middle cerebral arteries. Patients develop an extensive collateral network of parenchymal, transdural and leptomeningeal vessels to supply the compromised brain. These collateral channels, also known as ''moyamoya vessels'' may be seen in a number of disorders which lead to intracranial vascular occlusion. Paroxysmal nocturnal hemoglobinuria is a rare hemolytic disorder with a clonal abnormality of a marrow stem cell involving multiple blood cell lines characterized by chronic hemolytic episodes, pancytopenia, intravascular thrombosis. We report a case of moyamoya syndrome with paroxysmal nocturnal hemoglobinuria. The purpose of this case report is to remind us as clinical doctors of the possibility of moyamoya disease and PNH presented with anemia and stroke in young patients.