Alexander's disease in adults and diffuse cerebral gliomatosis in 2 members of the same family
Honnorat, J.; Flocard, F.; Ribot, C.; Saint-Pierre, G.; Pineau, D.; Peysson, P.; Kopp, N.
Revue Neurologique (Paris) 149(12): 781-787
1993
ISSN/ISBN: 0035-3787 PMID: 7997738 Document Number: 412132
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.