A 34-year-old previously healthy woman was diagnosed with moyamoya disease after hospitalization for recurrent ischemic events. She had experienced two 45-minute episodes of right-sided headache over 72 hours, accompanied by transient left upper extremity weakness and numbness.
Her past medical history was unremarkable, and she reported no tobacco, alcohol, or drug use. Family history was notable for ischemic stroke in her mother at age 60 and her aunt at age 50. On presentation, temperature was 36.5 °C (97.7 °F), heart rate 70 beats per minute, and blood pressure 120/65 mm Hg bilaterally. Neurologic examination showed left hemiparesis with 4/5 strength in the left upper and lower extremities and left hyperreflexia. Cranial nerve, sensory, and coordination testing were normal.
Laboratory tests, including complete blood cell count, erythrocyte sedimentation rate, liver function tests, and C-reactive protein, were within reference ranges. Urine toxicology was negative, and the electrocardiogram demonstrated normal sinus rhythm, noted the case author, Pierre de Mathelin, MD, of the Hôpital de Hautepierre-Hôpitaux Universitaires de Strasbourg, France.
Brain computed tomography revealed multiple right corticosubcortical hypodensities consistent with infarcts in the right junctional territories. Magnetic resonance imaging demonstrated subacute infarcts in the right frontoparietal region on diffusion-weighted and fluid-attenuated inversion recovery sequences. Magnetic resonance angiography showed narrowing of the terminal intracranial carotid arteries on both sides, more pronounced on the right, extending into the middle cerebral artery.
The patient was diagnosed with Moyamoya disease, a rare, noninflammatory, nonatherosclerotic cerebrovascular disorder characterized by progressive stenosis or occlusion of the terminal internal carotid artery with formation of fragile collateral vessels. Angiographic appearance resembles a “puff of smoke,” the translation of moyamoya from Japanese.
Epidemiologically, the disease occurs in approximately 0.1 per 100,000 people worldwide but is more prevalent in East Asia, particularly Japan, where prevalence is 17.6 per 100,000. It is roughly twice as common in females and shows a bimodal age distribution (around age 10 years and between 30–50 years). Family history is present in up to 15% of patients.
Digital subtraction angiography confirmed bilateral stenosis of the intracranial carotid arteries with an abnormal net-like vascular network. The patient started with aspirin (75 mg) and clopidogrel (75 mg). One week later, she sustained a new ischemic stroke and underwent indirect bypass revascularization. On postoperative day 21, she experienced another stroke, resulting in left hemiplegia.
Over the next 4 years, she developed further ischemic events, including right-sided weakness due to left middle cerebral artery occlusion, which was treated with direct superficial temporal artery–to–middle cerebral artery bypass. At 4-year follow-up, she had persistent left hemiparesis and a left steppage gait. Genetic testing showed no pathogenic variants.
Disclosures can be found in the published case.
Source: JAMA