Large-cell medulloblastoma in Aicardi syndrome. Case report and literature review.

An eight-year-old girl with Aicardi syndrome (AIC) developed signs of increased intracranial pressure. A clinical and radiological investigation revealed a tumor in the posterior fossa, which was resected. The histopathological diagnosis was large-cell medulloblastoma. Eight months later, she died of a local recurrence, despite treatment with chemotherapy and radiotherapy according to a PNET protocol. In addition to the growth of a large-cell medulloblastoma at the location of the primary tumor and the meningeal spread of the tumor, the autopsy revealed major cortical and subcortical malformations of the brain. Various benign (e.g., plexus papillomas) and malignant tumors (angiosarcoma, embryonic carcinoma, and hepatoblastoma) have been reported in connection with Aicardi syndrome. A genetic analysis of AIC suggests that the mutation is localized on the distal part of the short arm of the X chromosome, an area that may be of importance for tumor development. This is the first report of a primary malignant brain tumor -- large-cell medulloblastoma -- in a patient with Aicardi syndrome.