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Familial occurrence of moyamoya disease: a clinical study
Cited 12 time in
Web of Science
Cited 14 time in Scopus
- Authors
- Issue Date
- 2006-03-28
- Publisher
- Springer-Verlag
- Citation
- Childs Nerv Syst. 2006 Sep;22(9):1143-8. Epub 2006 Mar 25.
- Keywords
- Adolescent ; Age Factors ; Cerebral Angiography ; Cerebral Hemorrhage/diagnosis/genetics/surgery ; Cerebral Infarction/diagnosis/genetics/surgery ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Ischemic Attack, Transient/diagnosis/genetics/surgery ; Magnetic Resonance Imaging ; Male ; Moyamoya Disease/diagnosis/*genetics/surgery ; Pedigree ; Postoperative Complications/diagnosis/etiology ; Retrospective Studies ; Risk Factors ; Sex Factors ; Tomography, Emission-Computed, Single-Photon ; Tomography, X-Ray Computed ; Treatment Outcome
- Abstract
- 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. RESULTS AND 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.
- ISSN
- 0256-7040 (Print)
- Language
- English
- URI
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16565850
https://hdl.handle.net/10371/15280
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