Familial occurrence of moyamoya disease: a clinical study.
BACKGROUND
We reviewed a consecutive series of moyamoya disease (MMD) in children and studied their familial pedigrees to determine whether they showed specific clinical features or patterns of inheritance, and to investigate any correlation between familial MMD and common Asian diseases.


METHODS
Cases of familial MMD (N=10) were reviewed in the aspect of clinical presentation, such as, symptoms and signs, age of onset, imaging studies including magnetic resonance imaging (MRI), cerebral angiography, and single photon emission computed tomography (SPECT), and operative results including complications, to identify differences between these patients and those with sporadic MMD (N=194). The male to female ratio in those with familial MMD was 4:6 and mean age was 8 years (3-17). All were ischemic cases and five showed cerebral infarction on MRI. As a preliminary genetic study, familial pedigrees were examined. In addition, their familial histories concerning common Asian diseases, such as, hepatic disease, cancers, stroke, coronary heart disease, amyloidosis, and systemic lupus erythematosus, were investigated by telephone survey.


CONCLUSIONS
The familial MMD cases did not reveal any differences from the other MMD children in terms of clinical findings, imaging data, or surgical results. In our series, five cases (50%) showed MMD between siblings. Familial MMD relations were also observed with cousins, a mother, and an aunt. No specific pattern of genetic inheritance was observed, and no relation was found between the familial occurrence of MMD and common Asian diseases.
Department of Neurosurgery, College of Medicine, Kangwon National University, Chuncheon, South Korea.
Ho Jun
HJ
Seol
Kyu-Chang
KC
Wang
Seung-Ki
SK
Kim
Yong-Seung
YS
Hwang
Ki Joong
KJ
Kim
Byung-Kyu
BK
Cho
D000293:Adolescent; D000367:Age Factors; D002533:Cerebral Angiography; D002543:Cerebral Hemorrhage / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D002544:Cerebral Infarction / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D002546:Ischemic Attack, Transient / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D008279:Magnetic Resonance Imaging; D008297:Male; D009072:Moyamoya Disease / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D010375:Pedigree; D011183:Postoperative Complications / Q000175:diagnosis / Q000209:etiology; D012189:Retrospective Studies; D012307:Risk Factors; D012737:Sex Factors; D015899:Tomography, Emission-Computed, Single-Photon; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome