Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Lesch-Nyhan syndrome physical examination
Introduction
Overview
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
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
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]