title: [Adrenoleukodystrophy (melanodermic leukodystrophy). Report of an anatomo-clinical case].
abstract: The case of a 14-year-old boy with "diffuse cerebral sclerosis", preceded by signs of primary adrenal cortical insufficiency for 7 years with familiar antecedents is reported. This disorder, named adrenoleukodystrophy, has a sex-lin(ed recessive inheritance. The clinical picture is characterized by mental deterioration, gait disturbances, visual impairment, associated with primary adrenal cortical insufficiency. Confirming the data from literature, in our case the pathological study showed myelin degeneration and diffuse gliosis in the cerebral white matter, with no involvement of subcortical fibers. Inflammatory cells are common, and have a perivascular distribution. In the fasciculata and reticular zones of the adrenal gland, "baloon-shaped" cells are evident, most of them presenting a vacuolized and striated cytoplasm. Similar lipidic inclusions have been found in the Schwann cells of the periheral nerves and testis. The findings are compared with twenty cases from the literature.
mesh_terms: D000224:Addison Disease / Q000150:complications* / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D000293:Adolescent; D000311:Adrenal Glands / Q000473:pathology; D001921:Brain / Q000473:pathology; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D009186:Myelin Sheath / Q000473:pathology; D009410:Nerve Degeneration; D011596:Psychomotor Disorders / Q000209:etiology; D012737:Sex Factors
vernacular_title: Adrenoleucodistrofia (leucodistrofia melanodérmica). Registro de um caso anátomo-clínico.