Lesch-Nyhan syndrome physical examination

Lesch-Nyhan syndrome Microchapters
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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

• Flank pain from nephrolithiasis

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
  • Dystonia
  • Choreoathetosis
  • Opisthotonus
  • Severe dyslexia
• Dysarthria
• Extra-pyramidal tract symptoms:
  • Hyperreflexia
  • Ankle clonus
• Compulsive behavior

Genitals

• Testicular atrophy
• Delayed puberty

Other

• Orange colored grainy crystals in the diapers
• Self-inflicted injuries: bite marks, scarring of lips and fingers