[Adrenoleukodystrophy (Schilder-Addison's disease): a probable case in an adult (author's transl)].
Adrenoleukodystrophy (Schilder-Addison's disease) is a sex-linked recessive syndrome usually observed in children, associating neurological disorders and Addison's disease. Its outcome is death after a few years. The authors report the case of a man in whom a spastic paraparesis and a mental deterioration appeared at the age of 30 years. A biological adrenal deficiency was found: plasma cortisol and urinary 17-hydroxy-steroids and 17-ketosteroids failed to increase after synacthen stimulation; plasma ACTH level was above normal. Since two nephews of the patient suffered from adrenoleukodystrophy, the same disease is likely in the reported patient.
D000224:Addison Disease / Q000150:complications* / Q000175:diagnosis; D000328:Adult; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male
Un cas probable d'adrénoleucodystrophie (maladie de Schilder-Addison) chez un adulte.