Moyamoya disease with neuro-ophthalmic manifestations: a rare case report

Area of Science:

• Neurology
• Vascular Neurology
• Ophthalmology

Background:

• Moyamoya disease (MMD) is a rare, idiopathic, occlusive cerebrovascular disorder.
• It is characterized by progressive stenosis of major intracranial arteries, notably the internal carotid and middle cerebral arteries.
• While prevalent in East Asia, MMD is occasionally observed globally.

Observation:

• This report details a unique case of Moyamoya disease in a young woman from Northeast India.
• The patient presented with bilateral optic nerve involvement, a less common manifestation of MMD.
• Radiological diagnosis confirmed MMD with this specific ocular complication.

Findings:

• The case demonstrates MMD presenting with bilateral optic nerve abnormalities.
• This finding expands the spectrum of known MMD manifestations.
• The irregular perforating vascular networks characteristic of MMD were identified.

Implications:

• This case underscores the importance of considering MMD in patients with unexplained optic nerve issues.
• It highlights the need for increased awareness of MMD's diverse clinical presentations, including ocular involvement.
• Further research may elucidate the mechanisms linking MMD and optic nerve pathology, particularly in underrepresented geographic regions.