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."