Sex-linked sudanophilic leukodystrophy with adrenocortical atrophy (so-called Schilder's disease). Report of a case and review of the literature.
We report the clinical and pathologic features of a case of sex-linked sudanophilic leukodystrophy in an 8-year-old boy. Our survey of the pertinent literature on this disease supports the current view that it is not limited to the central nervous system, but is a generalized process, probably caused by an unknown metabolic defect, with a definitive genetic pattern and varying expressions. Although the disease was originally described by Schilder as a single entity, cases like ours show that the term "sudanophilic leukodystrophy" represents a better classification than the usually misinterpreted eponym, "encephalitis periaxialis diffusa."
D000302:Adrenal Cortex / Q000473:pathology; D000303:Adrenal Cortex Diseases / Q000150:complications / Q000473:pathology*; D000307:Adrenal Gland Diseases / Q000473:pathology*; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology*; D002648:Child; D003711:Demyelinating Diseases / Q000145:classification; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D009626:Terminology as Topic