[Adrenomyeloneuropathy. 4 cases developing with the features of familial spasmodic paraplegia].
Four cases of adrenomyelopathy, the adult form of adrenoleukodystrophy, three of which were familial, were reported. The neurological disease consisted of progressive spasmodic paraplegia, sphincter disorders, peripheral neuropathy, occasional deep sensibility impairment and psychiatric disturbances in one case. Adrenal insufficiency was confirmed after the appearance of the neurological signs in two cases; in another case it had been diagnosed in childhood. Gonadal insufficiency was present in all cases and clinically apparent in two patients. Detailed genetic studies were carried out in two patients of the same family. Histocompatibility tests showed A2 and B15 antigens in three out of four cases. The diagnosis was confirmed in three cases by measurement of serum long chain fatty acid with increased C26 levels and C26/C22 ratios. Peripheral nerve biopsy in 1 patient showed characteristic inclusion bodies in the Schwann cells. The authors discuss the relationship between ALD and familial spasmodic paraplegia, the mode of genetic transmission of the disease and the diagnostic value of neuromuscular biopsy and measurement of serum long chain fatty acid levels.
D000326:Adrenoleukodystrophy / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000209:etiology / Q000235:genetics; D010264:Paraplegia / Q000209:etiology / Q000235:genetics*
Adrénomyéloneuropathie. Quatre cas évoluant sous les traits d'une paraplégie spasmodique familiale.