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At a glance

It is a progressive disease that affects the cerebrovascular circulation. It is 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.

Synonyms

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

Incidence

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. In Japan, the incidence is higher and estimated at 0.35:100,000 in the general population. In North America, women in the third or fourth decade of life are more often affected. The clinical presentation of these women is usually the manifestation of transient ischemic attacks (TIA), cerebral hemorrhage, or no symptoms at all. This condition may also occur during infancy or childhood.

Genetic inheritance

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.

Pathophysiology

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 which leads to a disorganization of the lamina elastica of the affected arteries. The collateral network consists of small-or 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

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.

Clinical aspects

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 ...

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