Alexander's Disease: A Case Report with Ultrastructural, Immunohistochemical and MRI Findings

Abstract

Alexander's disease is an unusual type of disorder which is characterized by a progressive neurological deterioration and the diffuse deposition of Rosenthal fibers. In this study, a case of 7 years old boy with Alexander's disease is evaluated in detail with full emphasis on its clinical and morphological characteristics. Clinical and pathological findings of the patient coincide with the classic features of Alexander's disease. From the findings, the basic pathogenetic mechanism was postulated. Current knowledge of this disorder strongly supports a possibility of a metabolic defect in the degradation of glial filament proteins of astrocytes and therefore, it is our belief that the term Alexander's disease should be used more strictly for the cases with an early onset and typical clinical manifestations.