We report two patients with Fanconi anemia (FA) and moyamoya disease taken from a clinical database composed of 434 FA patients. Both are compound heterozygotes for the 322delG and R185X mutations in the FA complementation group C (FACC) gene. This combination of mutations is not found in any other of the 174 FA families screened. Either the 322delG or R185X mutation alone or in combination may predispose to primary, possibly congenital, vascular anomalies.
Four patients with clinical findings and computerized tomographic brain scan evidence of brain suppurative disease were treated and cured with high-dose intravenous antibiotics without neurosurgical intervention. More data are required before any statement can be made regarding the long-term efficacy of nonsurgical versus surgical management of brain abscess.
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