Moyamoya disease (MMD) is a rare yet progressive cerebrovascular disorder caused by the constriction of arteries, which leads to the twisting and tangling of small arteries in the brain, ultimately causing blockages. Although moyamoya angiopathy (MMA) has been known for almost six decades, its pathophysiology remains unknown, posing challenges to timely diagnosis. Moyamoya syndrome (MMS) refers to the association of MMA with various diseases, including infections, tumors, arteriovenous malformations, radiation treatment, and hereditary disorders. On the other hand, MMD, an idiopathic form, is now more frequently linked to genetic abnormalities. MMS is more common in people of Asian descent, but we encountered and aim to discuss a rare case of a 32-year-old Caucasian from Colombia who was diagnosed with it. The patient initially presented with unexplained symptoms of stroke, prompting doctors to conduct additional imaging. Fortunately, this led to her timely diagnosis. The report discusses the challenges that healthcare professionals face in diagnosis when presented with such uncommon cases. Through this case report, we try to review the presentation, diagnosis, and treatment used for this patient with MMS. The limited information available about the disease, especially the demographic data in countries outside Asia, often leads to delayed diagnoses, emphasizing the need for further exploration. Timelier diagnosis and heightened research into the disease's presentation and risk factors could lead to improved outcomes. Our report also briefly discusses the effectiveness of the current treatment protocol for patients. Currently, the patient is undergoing rehabilitation and showing promising progress.
Keywords: cerebrovascular diseases; migraine; moyamoya; moyamoya disease (mmd); moyamoya etiology; moyamoya syndrome; stroke.
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