Abstract
A patient with clearly developed features of the full Lesch-Nyhan syndrome and complete lack of activity of hypoxynthine-phosphoribosyl-transferase is described. The clinical picture was characterized by absence of spasticity, good control of autoaggression by behavior therapy, and no signs of renal insufficiency. After death, which was caused by a viral infection, pathological examination and a search for material immunologically crossreacting with hypoxanthine-phosphoribosyltransferase were possible. In spite of increased serum urate levels and raised urinary uric acid excretion there were no signs of urate deposits or damage in the internal organs, including the kidneys. Crossreactive material was found in the liver, kidneys and spleen, a relatively rare finding in the full Lesch-Nyhan-syndrome. The absence of any specific pathological changes in the brain of this patient is in agreement with earlier reports.
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Bassermann, R., Gutensohn, W., Jahn, H. et al. Pathological and immunological observations in a case of Lesch-Nyhan-syndrome. Eur J Pediatr 132, 93–98 (1979). https://doi.org/10.1007/BF00447375
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DOI: https://doi.org/10.1007/BF00447375