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