[Adult disclosure of a case of familial adrenoleukodystrophy].
We report a case of adult adrenoleukodystrophy. The patient, originating from North Africa, had no clinical history until age 23. The first disorder, a spastic paraparesis, occurred after a 5 days coma following a cranial traumatism. The course of the disease was then progressive remitting and the patient died at age 30. Total duration was 7 years. The diagnosis of A.L.D. was ascertained by the determination of excessive very long chain fatty acid level in plasma. Endocrinological study revealed adrenal insufficiency but darkening of the skin was masked by racial pigmentation. The patient was the oldest of 10 children. 3 of the brothers died of childhood A.L.D. around the age of 12 after a progressive 2 years course. The mother and 2 asymptomatic brothers have increased plasma levels of hexacosanoic acid and A.C.T.H. The particularity of this adult case is the lack of spinal demyelination. Pathological studies revealed a widespread cerebral demyelination with an inflammatory process. The features of this case are compared to those of the 13 other reported cases of adult A.L.D.
Turpin
J C
JC
Paturneau-Jouas
M
M
Sereni
C
C
Pluot
M
M
Baumann
N
N
D000309:Adrenal Insufficiency / Q000209:etiology; D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005227:Fatty Acids / Q000097:blood; D006801:Humans; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000209:etiology
D005227:Fatty Acids
Révélation à l'age adulte d'un cas d'adrénoleucodystrophie familiale.