[Clinical and anatomical features of a case of Schilder's disease (author's transl)]

Abstract

A case of a Schilder's disease (1912 type) in a seven year old boy is described. The patient died after four months and autopsy was performed. The most important clinical features are represented by repeated electroencephalograms, immunologic investigations in both plasma and CSF as well as tests of adrenal function. Histopatological examination of the brain shows a diffuse sudanophilic orthocromatic demyelinating process of both hemispheres with intense vascular cuffing, microglial proliferation and astrocytic hypertrophy. These findings are in contrast with some recent statements in the literature which reject a nosographic individuality to Schilder's disease and describe "Adrenoleukodystrophies" on doubtful criteria.