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[Moyamoya disease in fraternal twins]
1Department of Neurosurgery, Miyazaki Medical College, Japan.
No to Shinkei = Brain and Nerve
|November 1, 1990
Summary
This study reports on fraternal twins diagnosed with moyamoya disease, highlighting differing disease progression and outcomes. Genetic factors, specifically HLA type, may play a role in the pathogenesis of this rare cerebrovascular condition.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Moyamoya disease is a rare, progressive cerebrovascular disorder characterized by stenosis of the terminal portions of the internal carotid arteries.
- It often leads to ischemic events, such as cerebral infarction, and can result in severe neurological deficits, particularly in children.
- Understanding the genetic and environmental factors contributing to moyamoya disease is crucial for early diagnosis and effective management.
Observation:
- This report details a case of fraternal twins with moyamoya disease, presenting with distinct clinical onsets and disease trajectories.
- One twin experienced early onset at 2 years and 6 months, leading to multiple cerebral infarctions, severe neurological deficits (hemiparesis, hemianopsia, aphasia, mental retardation), and subsequent bilateral encephalomyosynangiosis.
- The other twin had a later onset at 5 years and 5 months with good physical and neurological development, undergoing bilateral Superficial Temporal Artery-Middle Cerebral Artery anastomosis and encephalomyosynangiosis, with no developmental issues reported.
Findings:
- The affected twins and their younger sister share the same Human Leukocyte Antigen (HLA) type, suggesting a potential genetic predisposition.
- The differing clinical presentations in the twins, despite sharing the same HLA type, indicate that both hereditary and environmental factors likely contribute to the pathogenesis of moyamoya disease.
- Surgical interventions, including encephalomyosynangiosis and STA-MCA anastomosis, were performed in both twins to improve cerebral blood flow.
Implications:
- This case underscores the complex interplay of genetic and environmental factors in the development of moyamoya disease.
- Further research into HLA associations and environmental triggers is warranted to elucidate the complete pathogenesis.
- Early diagnosis and timely surgical intervention may improve outcomes for children affected by moyamoya disease.