RICHNER-HANHARTS SYNDROME OR OCULO-CUTANEOUS TYROSINOSIS (ABOUT ONE CASE)

  • 1 January 1979
    • journal article
    • research article
    • Vol. 106  (1) , 53-62
Abstract
Richner-Hanhart''s syndrome corresponds to a hypertyrosinemia due to a deficiency of a soluble tyrosine aminotransferase. This recently described tyrosinosis has been called oculo-cutaneous tyrosinosis. This disease, inherited as a recessive trait, is amenable to treatment by a low tyrosine diet. In an 18 mo. old infant with bilateral dendritic keratitis, a punctiform keratosis of the extremities, a patchy leukokeratosis of the tongue and mental retardation, the hypertyrosinemia reached 52 mg/100 ml and the urine demonstrated the presence of phenyl-atonic acids. There was no hepato-renal involvement. The deficiency of soluble amino-transferase was studied on the hepatocytes. The low tyrosine diet made the clinical and biological signs disappear. The improvement was noticeable from the 1st wk on and continued during the 16 mo. of the follow-up. There was no effect of the special diet on weight and height growth. The oculo-cutaneous tyrosinosis is similar to the experimental form obtained by Schweizer on the rat. The occurrence of intracellular tyrosine crystals probably damages lysosome membrane and the release lysosome proteases induce the cellular lesions.

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