Moyamoya Disease: A Rare Vascular Disease of the CNS

Abstract

Moyamoya disease (MMD) is a rare disease affecting the cerebral vasculature of the central nervous system (CNS) with a reported incidence of 0.35-0.94 per 100,000 populations. It was first reported from Japan and later from other parts of the world. The pathology is narrowing of blood vessels supplying anterior circulation and rarely posterior circulation. It was believed that the disease is genetic in origin, but environmental factors also play a role. Patients with this rare disease may present with ischemic or hemorrhagic symptoms. Ischemic symptoms account for the disease in most of the pediatric patients, whereas in adults, hemorrhage is more common. Diagnostic imaging like CT angiogram and magnetic resonance angiogram helps in demonstrating the narrowing or the collateral vessels like "a puff of smoke" (moyamoya) formed at the base of the brain. Moyamoya disease is treated medically and/or surgically. Aspirin is the main medication used. Surgical options are direct or indirect revascularization techniques to bypass the stenosis. The disease is progressive in majority of the patients, but if treated early, they can have good prognosis especially children.

An Interesting Case of Moyamoya Disease, a Rare Cause of Transient Ischemic Attacks

“…Various invasive and semi-invasive studies can be used to identify MMD [5]. Transcranial Doppler can be used bedside to detect stenosis, but CT or MRI can detect ischemic vs. hemorrhagic strokes.…”

“…MMD is a disease with progression rate in the natural clinical course of about 20% in six years, with female sex being an independent risk factor for progression [9]. Symptomatic treatment is indicated in acute ischemic or hemorrhagic stroke presentations, including decreasing intracranial pressure, seizure prophylaxis, draining intraventricular hemorrhage, and thermoregulation [5]. Current literature defines surgery as the mainstay treatment for secondary prophylaxis.…”

“…Antiplatelets (e.g., Aspirin) can be used for prophylaxis in asymptomatic or hemodynamically stable individuals. However, none of the interventions have shown improved outcomes [5].…”

Moyamoya Disease in a Child With Fanconi Anemia: An Anomaly or a Complication

“…The word “Moyamoya” in Japanese means “a puff of smoke” referring to the characteristic angiographic appearance of the collateral circulation in the brain. MMD is rarely associated with FA [ 3 ]. It results from chronic stenosis or occlusion of the distal carotid artery and subsequent formation of collateral vessel networks.…”

Untitled

“…EPVs are detected through a T2-weighted MRI and they indicate the presence of small vessel disease. The rare disease is progressive, with an appearance of a puff of smoke in the brain area [5]. It is unfortunate that moyamoya is not curable [6].…”