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X-ray of the left wrist of a 15-year-old boy with Lesch-Nyhan disease

X-ray image of the left wrist showing a soft tissue mass adjacent to the metacarpal and proximal to the second finger 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.

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Associated Disorders

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