Lesch-Nyhan syndrome is a genetic disorder associated with 3 major clinical elements due to hypoxanthine-guanine phosphoribosyl transferrase (HGPRT) deficiency. These elements include overproduction of uric acid, neurology disability, and behavioral problems.
The overproduction of uric acid implies hyperuricemia; it can produce nephrolithiasis with renal failure, gouty arthritis, and solid subcutaneous deposit called tophi.
The neurologic disability is displayed by dystonia but may include choreoathetosis, ballismus, and pyramidal signs, like a spasticity and hyperreflexia.
Behavioral problems have cognitive dysfunction, aggressive and impulsive behavior. Often these patients develop persistent and severe self-mutilation.
Diagnosis is confirmed by identifying a molecular mutation in the HGPRT gene on the X chromosome.
Treatment is limited.
Control of overproduction of uric acid with Allopurinol or another agent for gout is useful to reduce the risk of nephrolithiasis and gouty arthritis. The goal is to maintain uric acid in the normal range, because attempting to suppress uric acid below normal level increases the risk of developing oxypurine stones instead.
The neurologic symptom can be managed with a combination of baclofeno and benzodiazepine, while the behavioral abnormalities are best controlled by a combination of behavioral modification techniques and medication.
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