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Progressive disease that affects the cerebrovascular circulation. Characterized by narrowing and/or complete obstruction of the carotids. Clinically, may cause paralysis. Headaches, various vision problems, mental retardation, and psychiatric problems may occur. Cerebral hemorrhage (subarachnoid), cerebral infarction, severe headaches, speech disorders, and sudden onset of recurrent paralysis are part of the presentation but most often occur in juvenile moyamoya patients. Children may have convulsions or involuntary movements. Hemianopia, diplopia, bilateral decreased visual acuity, and inability to recognize objects are clinical symptoms.

Moyamoya disease

Left: Normal lateral cerebral angiogram. Right: Typical findings of moyamoya disease in a 6-year-old boy. Characteristic “puff-of-smoke” sign (arrows) above the carotid syphon, with mainly preserved perfusion in the area of the anterior and the posterior cerebral artery.

Nishimoto-Takeuchi-Kudo-Suzuki Disease; Puff-of-Smoke Disease.

The estimated prevalence is undetermined and considered rare. Approximately 7% of all moyamoya cases are familial in Greece. The sex distribution is reported to be a female-to-male ratio of 1.8:1.

Sporadic; however, for the 7 to 10% that are familial cases, 24% of which are mother-sibling inherited, autosomal recessive. Gene map locus is 3-p24.2-p26. Although it may occur at any age, the age of onset tends to determine the various symptoms.

Moyamoya disease is a result of progressive stenosis of cerebral arteries located at the base of the brain. It affects the intracerebral part of the internal carotids and causes a secondary collateral network that produces a radiologic image of a “puff of smoke” during cerebral angiography (“moyamoya” in Japanese). This aspect may be idiopathic or secondary to a known cause (drepanocytic anemia, radiotherapy, tuberculous meningitis, or in some patients affected by neurofibromatosis type I or William syndrome). It is caused by fibrocellular thickening of the intima and disorganization of the lamina elastica of the affected arteries. The collateral network consists of smallor medium-size penetrating arteries, mainly at the base of the skull, and results in hemodynamic implications different from atherosclerotic cerebrovascular disease of the elderly patient.

Diagnosis is suggested by brain scans and magnetic resonance images showing multiple ischemic accidents of different ages, possibly hemorrhage and abnormal vessels at the base of the brain. Conventional angiography ascertains the diagnosis and assesses the stage of the disease.

In 50% of cases, the disease starts before age 10 years. It usually presents with transient motor disturbances resulting from transient brain ischemia. Progression may be insidious with headaches, epileptic seizures, language disorders, and upper cerebral dysfunctioning. More often signs are acute and focal, the most common being hemiplegia, sometimes hemichorea. The usual picture is alternating hemiplegia because of repeated deficiencies. Episodes are precipitated by hyperventilation (crying, blowing balloons) and emotions. Adults usually present with intracranial hemorrhage. Surgical treatment by creation of extracranial anastomosis (e.g., EDAS [encephaloduroarteriosynangiosis]).

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