[Adrenomyeloneuropathy: clinical, genetic and morphologic features. Apropos of 5 cases].
The authors describe five cases of adrenomyeloneuropathy, an adult form of adrenoleukodystrophy. Three of the cases were related. The clinical picture comprises progressive spasmodic paraplegia, sphincter disorders, peripheral neuropathy, sometimes hollow foot and posterior columns disorders. In one case psychic disorders were observed. Biochemical analyses confirmed or revealed adrenal insufficiency in four cases and gonadal insufficiency in three cases. A detailed genealogical study was made in two patients belonging to the same family. Histocompatibility tests revealed the presence of A2 and B15 antigens in three cases. Diagnosis was confirmed in three cases by plasma determination of long-chain fatty acids, with an increase in the level of C26 acids and the C26/C22 ratio; biopsy of the peripheral nerve in one patient revealed inclusions characteristic of Schwann's cells. Symptomatological links between ALD and familial spasmodic paraplegia, the mode of genetic transmission of the disease, the contribution of neuromuscular biopsy to the diagnosis and the therapeutic prospects of a diet low in long-chain fatty acids are discussed.
D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D001706:Biopsy; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis*; D005227:Fatty Acids / Q000097:blood; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D010525:Peripheral Nerves / Q000473:pathology; D014960:X Chromosome
D005227:Fatty Acids
Adrénomyéloneuropathie: particularités cliniques, génétiques et morphologiques. A propos de cinq cas.