Lesch-Nyhan syndrome physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Overview
The features of the Lesch-Nyhan syndrome are mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips. Megaloblastic anemia has been found in some.
Physical examination
Appearance of the Patient
- If the patient presents in later stages, he may be wheel chair bound
- Developmental delay or growth retardation
- Mental retardation
- Abnormal involuntary movements (choreoathetosis)
- Tissue disfigurement
- Short stature
Vital Signs
- Within normal limits
Abdomen
Extremities
- Gouty arthritis: red, hot, swollen joints, gouty tophi
- Proximally located thumb and fifth finger clinodactyly
Neurologic
- Impaired cognitive function
- Delay in motor development
- Seizures
- Pyramidal tract symptoms:
- Spasticity: Flexure contractures
- Dysarthria
- Extra-pyramidal tract symptoms:
- Hyperreflexia
- Ankle clonus
- Compulsive behavior
Genitals
Other
- Orange colored grainy crystals in the diapers
- Self-inflicted injuries: bite marks, scarring of lips and fingers