[Adrenoleukomyeloneuropathy. A familial case].
Adrenomyeloneuropathy (AMN) was diagnosed in a 24 year old man. He had had acute periods of adrenal insufficiency since early infancy and had melanoderma, moderate mental deterioration, psychic disorders and, from 16 years of age, a spastic paraplegia. Confirmation diagnosis was obtained by the existence in the family of two definite cases (a brother and second cousin) and one probable case (a maternal uncle) of an adrenoleukodystrophy (ALD), by the demonstration of a peripheral neuropathy with characteristic lamellar inclusions in a sural nerve biopsy and by raised plasma very long chain fatty acids level. Multinodal study of evoked potentials showed anomalies due to changes in supraspinal central nervous system. Adrenoleukomyeloneuropathy or ALMN (the association within the same family of cases of AMN and ALD being possible as confirmed by the present case) is recessive and X - linked. It belongs to the peroxisomial diseases. No therapy has been proven effective on the neurological disease.
Gastaut
J L
JL
Service de Neurologie, Hôpital Sainte Marguerite, Marseille.
Pellissier
J F
JF
Pfister
B
B
Figarella-Branger
D
D
Michel
B
B
D000208:Acute Disease; D000309:Adrenal Insufficiency / Q000235:genetics* / Q000503:physiopathology; D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics; D010264:Paraplegia / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure
Adrénoleucomyéloneuropathie. Un cas familial.