title: [Alexander's disease in adults and diffuse cerebral gliomatosis in 2 members of the same family].
abstract: A 31-year old woman died after 10 years of progressive dysautonomia and cerebellar and pyramidal symptoms. CT scan showed pontine, bulbar and cerebellar atrophy. Post-mortem examination revealed Rosenthal's fibers widespread throughout the CNS, but especially in the subependymal and perivascular regions. White matter cavitations involving peri-ventricular regions, hilum of dentate nuclei and pons were observed, leading to a diagnosis of adult form of Alexander's disease. At the age of 5, the patient had been operated upon for a chiasmatic tumor. Microscopic examination revealed a pilocytic astrocytoma without Rosenthal's fibers. No complementary radiotherapy had been done. Her mother has been operated upon in 1972, for a high-grade glioma and is still alive 20 years later. This suggests diffuse cerebral gliomatosis. This family history may suggest a relation between these different diseases. They might be the result of a transmissible astrocytic abnormality with varying expression.
authors.affiliation: Service de Neuropathologie, Hôpital Neurologique, Lyon.
authors.forename: J
authors.initials: J
authors.lastname: Honnorat
authors.forename: F
authors.initials: F
authors.lastname: Flocard
authors.forename: C
authors.initials: C
authors.lastname: Ribot
authors.forename: G
authors.initials: G
authors.lastname: Saint-Pierre
authors.forename: D
authors.initials: D
authors.lastname: Pineau
authors.forename: P
authors.initials: P
authors.lastname: Peysson
authors.forename: N
authors.initials: N
authors.lastname: Kopp
mesh_terms: D000328:Adult; D001253:Astrocytes / Q000473:pathology; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology; D002526:Cerebellar Diseases / Q000235:genetics* / Q000473:pathology; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D005910:Glioma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009454:Neurofibrils / Q000473:pathology; D013577:Syndrome
vernacular_title: Maladie d'Alexander de l'adulte et gliomatose cérébrale diffuse chez deux membres d'une famille.