Angiographic, CT, and MRI Findings in Moyamoya Disease: A Case Report with an Updated Review of the Literature

Moyamoya disease (MMD) is an occlusive cerebrovascular condition characterized by progressive stenosis of the terminal portion of the internal carotid artery (ICA) and the development of an abnormal vascular network at the base of the brain. This disease predominantly affects individuals in East Asian countries, with an incidence rate ranging from 6.03 to 9.1 per 100,000 people.

We report the case of a 41-year-old Hispanic woman who presented severe headaches, nausea, vomiting, and intermittent loss of alertness over a 15-day period. Upon admission, her vital signs were normal, and no focal neurological deficits were observed. Initial plain CT imaging revealed an interhemispheric subarachnoid hemorrhage with intraventricular involvement in the occipital recess and right atrium. Subsequent angiographic CT with 3D reconstructions exhibited the classic 'puff of smoke' appearance indicative of Moyamoya disease. Perfusion-weighted imaging (PWI) demonstrated normal relative cerebral blood flow, blood volume, and mean transit time in both hemispheres. Based on these imaging findings, the patient was diagnosed with MMD. She underwent an indirect revascularization procedure known as encephaloduroarteriosynangiosis, which involved suturing branches of the superficial temporal artery to the dura.

This case report underscores an atypical presentation of MMD in a Hispanic patient diagnosed by a combination of digital subtraction angiography (DSA), 3D CT angiography, and brain perfusion MRI. The findings highlight the importance of recognizing and diagnosing this rare condition in populations outside of East Asia. Furthermore, this report includes a review of the updated literature on MMD, providing valuable information on its diagnosis and management.

The clinical presentation and imaging findings, in this case, underscore the need for advanced diagnostic techniques, such as perfusion-weighted imaging (PWI) and quantitative color-coded parametric DSA (QDSA), to improve diagnostic precision and treatment planning. The successful application of indirect revascularization through encephaloduroarteriosynangiosis demonstrates the efficacy of surgical interventions in the treatment of MMD. Addressing ethnic disparities in MMD is crucial to improving early diagnosis and patient outcomes. Future research should focus on refining treatment algorithms, investigating nonsurgical interventions, and examining cognitive and psychological outcomes to further improve patient care.