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Familial moyamoya disease in Caucasians
1Department of Internal Medicine, Roger Williams Medical Center, Boston University School of Medicine, Providence, Rhode Island 02906, USA.
Abstract:
There are few reports of moyamoya disease (MMD) in the Caucasian population and even fewer descriptions of the natural history of the disease. The study reports a 12-year follow-up of two white male siblings with MMD. Although both brothers had a persistently abnormal electroencephalogram and a learning disorder, the siblings recovered on aspirin and antiepileptic therapy with minimal neurologic residua. The occurrence of MMD in these siblings contributes to the evidence that MMD has a hereditary basis in Caucasians, as well as the Japanese. Even with the use of conservative measures, children may still have persistent yet minor cerebrovascular insults. In addition to the two patients discussed, this study reviewed the literature on all cases of MMD reported within families. Future follow-up studies are required to determine the natural history and the appropriate medical and surgical management of MMD.
Insights
Moyamoya disease (MMD) in Caucasian siblings showed a hereditary basis. Despite learning disorders, aspirin and antiepileptic therapy led to recovery with minimal neurological issues.
Area of Science:
- Neurology
- Genetics
Background:
- Moyamoya disease (MMD) is rare in Caucasians, with limited data on its natural history.
- This study focuses on the long-term follow-up of two Caucasian male siblings diagnosed with MMD.
Observation:
- Both siblings presented with abnormal electroencephalograms and learning disorders.
- They were treated conservatively with aspirin and antiepileptic drugs.
Findings:
- The siblings demonstrated recovery with minimal neurological deficits after treatment.
- This case series supports a hereditary component of MMD in Caucasian populations.
Implications:
- MMD may have a genetic predisposition in Caucasians, similar to the Japanese population.
- Even with conservative management, children with MMD can experience minor cerebrovascular insults.
- Further research is needed to understand MMD's natural history and optimal treatment strategies.