[X-Linked Adrenoleukodystrophy or the Management of Rare Diseases in the General Practice]. / Die X-chromosomale Adrenoleukodystrophie oder vom Umgang mit seltenen Erkrankungen in der hausärztlichen Praxis.

ABSTRACT

X-Linked Adrenoleukodystrophy or the Management of Rare Diseases in the General Practice Abstract. We report on a 48-year-old patient with X-linked adrenoleukodystrophy with slowly progressive leg-accentuated spastic paraparesis, vegetative dysfunction with bladder and sexual dysfunction, and primary adrenal insufficiency. The diagnosis of adrenomyeloneuropathy, the adult form of adrenoleukodystrophy, and Addison's disease was made at the age of 20 by evidence of an increased concentration of long-chain fatty acids in the plasma. The therapy is symptom-oriented.