Lesch-Nyhan syndrome: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Lesch-Nyhan syndrome: clinical features. Lips, Tongue, Digits, Eyes. Fully referenced neurology checklist.
Self-mutilation
- Lips
- Tongue
- Digits
- Eyes
Motor disorder
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Impulsive aggression
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Other neurological features
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Features of milder variants
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Systemic features
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Differential diagnosis: clinical
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Differential diagnosis: of hyperuricaemia
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References
- Fu R, Ceballos-Picot I, Torres RJ, et al. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain 2014; 137:1282-303.
- Maramattom BV. Self-mutilation in the Lesch-Nyhan syndrome. Neurology 2005; 65:E25.
- Jinnah HA, Ceballos-Picot I, Torres RJ, et al. Attenuated variants of Lesch-Nyhan disease. Brain 2010; 133:671-689.
- Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain 2006; 129:1201-1217.
- Visser JE, Harris JC, Barabas G, Eddey GE, Jinnah HA. The motor disorder of classic Lesch-Nyhan disease. Nucleosides Nucleotides Nucleic Acids 2004; 23:1161-1164.
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