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CASE REPORT
Late diagnosis of Lesch-Nyhan disease variant
  1. Brian Percy Doucet,
  2. Dev Jegatheesan,
  3. John Burke
  1. Department of Medicine, Mater Misericordiae Health Services, South Brisbane, Queensland, Australia
  1. Correspondence to Dr Brian Percy Doucet, brian.doucet{at}uqconnect.edu.au

Summary

A 30-year-old man was referred for investigation and management of hyperuricaemia. History included recurrent nephrolithiasis and chronic gout with poor response to medical management. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) enzyme activity was investigated and found to be deficient confirming the diagnosis of Lesch-Nyhan disease. Hyperuricaemia was treated with allopurinol. To prevent nephrolithiasis, the patient was instructed to avoid dehydration and aim for a minimum urine output of 2 L/day. Urinary alkalinisation with potassium citrate was started. The patient was referred for genetic counselling. This case discusses the genetics, pathophysiology, clinical manifestations, diagnosis and management of HGPRT deficiency.

https://doi.org/10.1136/bcr-2013-201997

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