Successfully reported this slideshow.
We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. You can change your ad preferences anytime.

Lesch–nyhan syndrome

5,646 views

Published on

Published in: Education, Health & Medicine
  • Be the first to comment

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.

×