2. •Also
known as Nyhan's 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)
3. 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
4.
5. 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
12. 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)
13. -LNS itself cannot be treated
-Only the symptoms of LNS can be treated.
-The drug allopurinol may be used to control excessive
amounts of uric acid.
-Kidney stones can be treated with lithotripsy
-To help reduce some of the problem behaviors and
neurological effects of LNS :
Diazepam (Diastat, Valium)
Haloperidol (Haldol)
Phenobarbital (Luminal)
14. 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.
