Familial occurrence of intracranial arterial occlusive disease (Moyamoya) in neurofibromatosis.

Moyamoya is a descriptive term for the cerebral angiographic finding of large arterial vessel occlusions and a telangiectatic vascular network involving the collateral circulation, usually in the area of the basal ganglia. The term was first used by Suzuki & Takaku (1969) in describing the angiographic findings in a group of young Japanese patients with acute hemiparesis the term Moyamoya indicates haziness, like that of a thin cloud. Although originally thought to be a specific, progressive entity, it has now been found in a variety of situations, including post-trauma, post-meningitis, with tuberculosis, with periarteritis nodosa, and with sickle-cell anemia (Hilal et al. 1971a, Seeler et al. 1978). It has also been found in the neurocutaneous disorders (Hilal et al. 1971b), but it is a rare occurrence in neurofibromatosis. Tomsick et al. (1976) reviewed 12 cases and added two of their own; Holt (1978), in his thorough review of radiologic manifestations of neurofibromatosis, added two more cases; and single or double case reparts continue to appear (Gotze & Kiihne 1976, Lamas et al. 1978, Levisohn et al. 1978). None of these reports of Moyamoya in neurofibromatosis have included cases within one family. We report siblings with both neurofibromatosis and intracranial arterial occlusive disease.