Adrenoleukodystrophy

ABSTRACT

The adenoleukodystrophy is recessive X linked hereditary affection related to the X peroxysomal origin to a deficiency in acyl-coenzyme A-synthetase. We report a case of a patient aged 9 years born after a consanguinous mariage, with no similar case in the family, who presented at the age of 8 with a cerebellar syndrome and decreasing hearing acuity. The neurological exam inationfound a cerebellar and an extrapyramidal syndrome and a deficiency of the pelvic girdle. The paraclinical investigations were in favor of myelinising affection the adrenoleukodystrophy. The patient was treated by hydrocortisone [15 mg morning, 5 mg evening]. Adrenoleukodystrophy which is a rare affection found in 1 out 400 birthis, related to the X chromosome. The gene was localised on the chromosome Xp28. It is near to factor VIII, the glucose 6 phosphate deshydrogenase, the myopathv of Emmery-dreyfus and the genes of green and red pigments. The gene was identified by Aubourg. Actually the genetic counceling is importantt in that affection, and that is thanks to the prenatal diagnosis possible by the very long chain fatty acid dosage in the chorionic villi where the culture of the amniotic cells at 9 weeks of amenorrhea permitting the diagnosis in 100% of case