Clinical Findings and Outcome of Moyamoya Disease/Syndrome

Objective: Moyamoya disease is a rare progressive cerebrovascular disorder. It is characterized by progressive stenosis in the terminal branches of the internal carotid arteries, leading to the formation of an abnormal vascular network. The aim of this study was to present the clinical findings and outcomes of pediatric patients diagnosed with Moyamoya disease by analyzing our cohort to identify the common clinical presentations, diagnostic challenges, and treatment outcomes associated with this rare cerebrovascular disorder. Material and Methods: Nine pediatric cases of Moyamoya disease admitted over a 10-year period were retrospectively reviewed. Clinical presentations, associated diseases, radiological findings, treatments, and outcomes were analyzed. Results: The median age at diagnosis was 48 months (3-87). Presenting symptoms included hemiparesis in five patients, seizures in six patients, headache in one patient, and choreathetosis with headache in one patient. Three patients experienced symptoms triggered by fever, and one patient by exposure to hot water. Seven patients presented with ischemic symptoms, while two presented with non-ischemic symptoms. Neurofibromatosis type-1 (NF-1) was associated with the disease in four patients. Recurrent attacks occurred in two patients. Interictal electroencephalograms (EEGs) showed hemispheric/focal slowing in five cases. Cranial magnetic resonance imaging (MRI) revealed infarctions in seven patients, and MR angiography showed bilateral findings in six patients. Two patients experienced no long-term sequelae. Conclusion: Moyamoya disease manifests with both ischemic and non-ischemic symptoms. Recognition of non-ischemic presentations requires a high index of suspicion for accurate diagnosis.