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[Moyamoya disease in fraternal twins]
1Department of Neurosurgery, Miyazaki Medical College, Japan.
Abstract:
The authors have reported here fraternal twins of moyamoya disease. The one has the onset at the age of two years and six months. Then he had suffered from multiple cerebral infarction and resulting in severe neurological deficits. Now he has right hemiparesis, left homonymous hemianopsia, aphasia and mental retardation. The encephalomyo synangiosis was done to the boy bilaterally at the age of five years. The other one has the onset at the age of five years and five months. He had good physical and neurological development. The Superficial temporal artery-Middle cerebral artery anastomosis and Encephalomyo synangiosis were done bilaterally. Now his development has no problems. The twins and their younger sister all have the same HLA type. The hereditary and environmental factors may be completely related to the pathogenesis of this disease.
Insights
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.