成年型孪生子Moyamoya病

Adult-onset Moyamoya disease in twins

目的报道一个成年型孪生子Moyamoya病。方法孪生姊妹之一的先证者为31岁,1年前出现全身乏力,检查发现糖尿病。半年前出现性格改变和抑郁,5个月前出现发作性右上肢麻木无力,2个月前出现左上肢活动不灵活和双下肢一过性无力,6d前出现大小便失禁和精神行为异常。查体显示轻度痴呆,左侧鼻唇沟浅,四肢肌力级,肌张力高,四肢锥体束征阳性。头部CT显示大脑半球多发性脑梗死。另一孪生妹妹在2年前亦发现糖尿病,曾经有过头晕发作。对先证者进行TCD和脑血管造影检查,另一孪生妹妹和无症状的2个哥哥及一对孪生女儿进行TCD检查。结果先证者DSA检查示双侧颈内动脉闭塞,双侧大脑前、中动脉主干不显影,颅底可见异常增生的血管网。TCD检查显示先证者和孪生姊妹的双侧颈内动脉末端闭塞,后循环代偿性血流增快,其孪生女儿之一存在双侧大脑中动脉起始段狭窄,无症状的2个哥哥血管无异常。结论孪生子Moyamoya病可以在成年起病,以缺血性损害为主要临床表现,合并糖尿病提示该类型Moyamoya病的发生可能和糖尿病相关基因的异常有关。当双胞胎之一出现Moyamoya病时,对另一个成员应当常规进行TCD筛查以确定其血管是否存在异常。

Objective Moyamoya disease is a multigenetic disorder characterized by progressive obstruction of the supraclinoid portion of internal carotid arteries associated with the formation of abnormal vascular network in the vicinity of the arterial occlusion. Here we report twins with adult ischemic type of Moyamoya disease. Methods The proband was one of the female twins. She has the diagnosis of diabetic mellitus at the age of 31 years old. 6d ago she underwent mood disturbance with depression and 5 months ago she suffered from recurrent numbness and weakness in the right arm. Cranial CT confirmed mutifocal cerebral infarct. Physical examination revealed mild dementia and right hemiparesis. The proband＇s twin sister also suffered from diabetic mellitus over 2 years and recurrent vertigo. Transcranial Doppler sonography（TCD） was performed on the twin sisters,their elder brothers and the proband＇s twin daughters. Digital subtraction angiography （DSA） was performed on the proband. Result DSA confirmed the diagnosis of Moyamoya disease in the proband. TCD revealed bilateral occlusion at the terminal portion of internal carotid arteries with a secondary increase of blood flow in posterior circulation in the proband and her twin sister. TCD also showed mild stenosis at the proximal portion of bilateral middle cerebral arteries in one of her twin daughters,while unremarkable in another one and her elder brothers. Conclusion Twins Moyamoya disease can also appear in adulthood with cerebral ischemic symptoms. Coexistence of Moyamoya disease with diabetic mellitus indicated that both disorders might share some genetic relation. TCD should be a routine screening tool to detect the cerebral vascular abnormalities in twins, when one of whom were diagnosed as Moyamoya disease.