Alexander's disease: a case report of a biopsy proven case.

ABSTRACT

A case of infantile onset Alexander's disease in a two and a half year old male child is presented, who had progressively increasing macrencephaly since birth. A frontal lobe biopsy revealed collections of Rosenthal fibres in the subpial and perivascular areas with diffuse dysmyelination and presence of reactive astrocytes. The Rosenthal fibres were immunoreactive for glial fibrillary acidic protein and ubiquitin. Electron microscopic examination showed the Rosenthal fibres as intra-astrocytic and extracellular granular osmiphilic collections.