Lesch–nyhan syndrome

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Lesch–nyhan syndrome

  1. 1. •Also known as Nyhans syndrome, Kelley- Seegmiller syndrome and Juvenile gout•It is a hereditary disorder of purine metabolism, characterized by menntal retardation, self-mutilation of the fingers and lips by biting, impaired renal function, and abnormal physical development.• It is a recessive disease that is linked to the X chromosome• It is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)
  2. 2. Overproduction of uric acid Behavioral• Urate crystal Abnormalities formations, which • Impaired cognitive look like orange functon sand, are deposited in • Self-mutation diapers of the babies• Kidney stones • Aggression/Impulsion• Blood in the urine• Dysphagia (difficulty swallowing)• Swelling of the joints• Vomiting
  3. 3. Pathogenesis Neurological disability Overproduction of Uric Acid - includes dystonia - associated with (abnormal firmness hyperuricernia of tissue or - can produce muscle), choreoathe Nephrolithiasis (kidney tosis (abnormal stones) with renal failure movement of and solid subcutaneous body), and deposits (tophi) occasional Behavioral Elements ballismus (jerky - cognative disfunction movement of arms and aggressive and or legs) impulsive behaviors - other signs include -severe self injurious spasticity and behavior is common hyperreflexia
  4. 4. This condition is inherited in an X-linked recessive pattern
  5. 5. PODAGRAGout causes sudden, yet severe attacks of pain, redness, and tenderness and inflammation of the joints
  6. 6. Behavioral Abnormalities self-mutilation of the lips by biting
  7. 7. Behavioral Abnormalitiesself-mutilation of the fingers by biting
  8. 8. Overproduction and accumulation of uric acid
  9. 9. Exams and Tests There may be a family history of this condition. The doctor will perform a physical exam. The exam may show: Overexaggerated reflexes Spacity Blood and urine tests may reveal high uric acid levels. A skin biopsy may show decreased levels of the HGP enzyme. Prenatal diagnosis is possible by DNA testing of fetal tissue drawn by amniocentesis or chorionic villus sampling (CVS)
  10. 10. -LNS itself cannot be treated-Only the symptoms of LNS can be treated.-The drug allopurinol may be used to control excessiveamounts of uric acid.-Kidney stones can be treated with lithotripsy-To help reduce some of the problem behaviors andneurological effects of LNS : Diazepam (Diastat, Valium) Haloperidol (Haldol) Phenobarbital (Luminal)
  11. 11. Prognosis: -The prognosis for LNS is poor because there are no treatments for the neurological effects of the syndrome. -Persons with this syndrome usually require assistance walking and sitting and generally need a wheelchair to get around. -The build-up of excessive uric acid in the body causes painful episodes of self-mutilation and may result in severe retardation and death.

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