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Anteroposterior x-ray of the left foot of a 15-year-old boy with Lesch-Nyhan disease

The x-ray shows a large soft tissue mass with intramass calcification due to a collection of sodium urate monohydrate, or uric acid. (Source: Ambarsari CG, Cahyadi D, Sari L, et al. Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and tophi burst: a case report. Ren Fail 2020;42(1):113-21. Creative Commons Attribution License. http://creativecommons.org/licenses/by/4.0.)

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  • Choreoathetosis
  • Dystonia
  • Gout
  • Hyperuricemia
  • Intellectual disability
  • Renal stones