Silent Moyamoya disease - A rare case report

Area of Science:

• Neurology
• Vascular Medicine
• Radiology

Background:

• Moyamoya disease is a rare, progressive cerebrovascular disorder characterized by stenosis of the terminal internal carotid arteries and the circle of Willis.
• It leads to the development of characteristic collateral vessels, often visualized through cerebral angiography.
• While predominantly reported in East Asian populations, Moyamoya disease affects diverse ethnicities and age groups globally.

Observation:

• This report details a unique case of a 40-year-old male diagnosed with Moyamoya disease.
• The patient presented with an unusual clinical manifestation: a small, subcutaneous nevus-like mass in his left orbit.
• This presentation is atypical for Moyamoya disease, which typically manifests as ischemic or hemorrhagic strokes.

Findings:

• The diagnosis of Moyamoya disease was confirmed in the patient despite the unusual orbital finding.
• This case underscores the variability in clinical presentation of Moyamoya disease.
• Cerebral angiography revealed the characteristic features of Moyamoya disease, including stenosis and collateral formation.

Implications:

• Moyamoya disease may be under-recognized in Western countries due to its varied clinical presentations.
• This case emphasizes the importance of considering Moyamoya disease in patients with unexplained neurological symptoms, even with atypical signs like orbital masses.
• Further research is needed to understand the full spectrum of Moyamoya disease manifestations and improve diagnostic strategies globally.