Clinical features
Patients are normal at birth but during early boyhood develop:
- choreo-athetoid movements
- scissoring position of legs
- orange crystals may be found in the nappy
- self-mutilation e.g. foot biting, head banging
- reduced IQ (e.g. less than 65)
- hypotonia, weakness and fits
Other features including megaloblastic anaemia, gout and renal colic may occur.
Reference
- Nanagiri A. Lesch-Nyhan Syndrome. Treasure Island (FL): StatPearls Publishing. 2025 Jan.
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