ID/CC A 2-year-old male is brought to the pediatrician by his mother because of repeated, self-mutilating biting of his fingers and lips; the patient's mother has also noticed abundant, orange-colored "sand" (uric acid crystals) in the child's diapers.
HPI The mother reports that some months ago the child's urine was red, but she took no action at the time.
PE Poor head control, difficulty walking, and difficulty maintaining an erect, seated position; choreoathetoid movements, spasticity, and hyperreflexia on neurologic exam.
Labs Hyperuricemia (>10 mg/dL). UA: crystalluria; microscopic hematuria (due to renal calculi).
Imaging XR: irregular amputation of several fingers.
Discussion Lesch-Nyhan syndrome is an X-linked recessive metabolic disease resulting from a deficiency of an enzyme of purine metabolism, HGPRT. If left untreated, patients develop full-blown gouty arthritis and urate nephropathy as well as subcutaneous tophaceous deposits. Compulsive, uncontrollable destructive behavior is typical of the disorder. Prenatal diagnosis is possible.
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