Moyamoya disease: case report and literature review

Area of Science:

• Neurology
• Vascular Neurology
• Neuroscience

Background:

• Moyamoya disease is a rare, chronic cerebrovascular disorder characterized by progressive stenosis of the terminal portion of the internal carotid arteries and the proximal portions of the anterior and middle cerebral arteries.
• It leads to the formation of abnormal, fragile collateral vessels at the base of the brain, often described as a 'puff of smoke' on angiography.
• While predominantly reported in East Asian populations, moyamoya disease affects individuals globally, presenting with diverse clinical features and age distributions.

Observation:

• This report details a case of moyamoya disease in a 44-year-old African American woman.
• The patient had a history of hypertension, cervical cancer, breast cancer, and a prior stroke, underscoring the varied comorbidities associated with the condition.
• Diagnosis was confirmed through characteristic imaging findings, likely cerebral angiography.

Findings:

• The case illustrates that moyamoya disease can occur in non-East Asian populations and in adults with significant medical histories.
• The clinical presentation and diagnostic pathway in this patient align with known, albeit less common, manifestations of moyamoya disease.
• Literature review provides a comprehensive overview of the disease's epidemiology, pathophysiology, clinical presentation, and diagnostic challenges.

Implications:

• Increased recognition of moyamoya disease is crucial in Western countries, where it may be underdiagnosed as a cause of stroke.
• This case emphasizes the importance of considering moyamoya disease in the differential diagnosis of ischemic and hemorrhagic strokes, irrespective of patient ethnicity or age.
• Further research into the genetic and environmental factors contributing to moyamoya disease may improve diagnostic accuracy and therapeutic strategies.