title: [Cutaneous, radiologic and endocrinologic aspects of adrenoleukodystrophy].
abstract: A case of adrenoleucodistrophy in a 9 year old boy is reported. At onset, strabismo, skin hyperpigmentation, difficulty in deambulation and retarded writing and language capability were seen. The child's condition rapidly worsened. Normal hemochrome, urine tests, azotemia, blood calcium levels, alkaline phosphate, aminoaciduria and lipidogram values were found. EEG showed diffused slow activity mainly bilaterally at the anterior deviations. TAC revealed hypodense grey matter, especially in the parietal zone, a typical finding in leucodystrophy (Cattarossi e coll., 1981). Cellular biopsy showed modifications of the fibrocells, considered indicative of this condition. The study of the hypothalamic hypophyseal - adrenal - gonadal axis showed a significant increase of LH and RH after stimulation, increased testosterone and androstenedione and reduced basal plasma cortisol, and after stimulation, levels. These findings suggest that hyposurrenalism may be secondary to 21 - hydroxylase deficiency.
mesh_terms: D001706:Biopsy; D002648:Child; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000097:blood / Q000000981:diagnostic imaging* / Q000473:pathology; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009132:Muscles / Q000473:pathology; D012867:Skin / Q000473:pathology; D014057:Tomography, X-Ray Computed
chemical_list: D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone
vernacular_title: Su alcuni aspetti cutanei, radiologici ed endocrinologici della adrenoleucodistrofia.