Clinical features of familial moyamoya disease in China

Objective To investigate the clinical features of familial moyamoya disease in China. Methods The patients with familial moyamoya disease admitted to the department of Neurosurgery, the 307th Hospital of PLA from March 2009 to June 2012 were analyzed retrospectively. Results Of 1 108 patients with moyamoya disease admitted to the department of Neurosurgery, the 307th Hospital of PLA, 87 patients (7.8%) with familial moyamoya disease were identified. Familial moyamoya disease was observed both in the Han nationality and the minority nationalities. The male to female ratio was 1∶1.02. The age at first onset ranged from 8 months to 59 years. There were two peak ages-of-onset, 5-9 years and 30-34 years, respectively). The most common initial symptom was cerebral ischemia (74.7%). The first degree relatives were the most affected in patients with familial moyamoya disease (78/87, 89.66%), in which the siblings accounted for most of the disease (38/78, 48.72%), and the proportions of mother-to-child inheritance (21/78, 26.92%) and father-to-child inheritance (19/78, 24.36%) were similar. Conclusions There are two peak ages-of-onset, cerebral ischemia is the most common initial symptom, the first degree relatives are the most affected in patients with familial moyamoya disease in China.