Question of the Week

Question :

Posted On : 05 Sep 2005

What's the pathogenesis and clinical presentation of lesch nyhan syndrome?

Expert Answer :

No expert answer available.

Answer Discussion :

Dr. A Santosh Kumar

defect in uric acid metabolism. self mutilation is classic clinical feature

19 years ago

anitha

defect in the purine metabloism with excess production of uric acid.
x linked inheritance.presents with self mutilation

19 years ago

dr nilesh gothi

uric acid metamotabolism

19 years ago

pediatriconcall

Lesch-Nyhan syndrome is a genetic disorder associated with overproduction of uric acid, neurological disability, and behavioral problems. The overproduction of uric acid is associated with hyperuricemia. If left untreated, it can produce nephrolithiasis with renal failure, gouty arthritis, and solid subcutaneous deposits known as tophi. The neurological disability encompasses a spectrum of extrapyramidal signs, including dystonia, choreoathetosis, and occasionally ballismus. Some patients also develop pyramidal signs, such as spasticity and hyperreflexia. The behavioral problems include cognitive dysfunction and aggressive and impulsive behaviors. Nearly all patients also develop persistent and severe self-injurious behavior.

The pathogenesis of the neurological and behavioral features is incompletely understood. Neurochemical and neuroimaging studies have demonstrated significant abnormalities of dopamine neuron function in the basal ganglia that might account for the abnormal extrapyramidal neurological signs and many of the behavioral anomalies.

19 years ago

natalie shilo

trichilomania, MR

19 years ago

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