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Zellweger Syndrome

INFORMATION ON ZELLWEGER SYNDROME:-
Zellweger syndrome may be defined as a rare neurological disease which is congenital (present at birth) in nature. Zellweger syndrome is characterized by the reduction or absence of cell structures that rid the body of toxic substances in the cells of the liver, kidneys, and brain.


SYNONYMS OF ZELLWEGER SYNDROME:-
1. Cerebrohepatorenal syndrome.
2. Zellweger Leukodystrophy.


CAUSES OF ZELLWEGER SYNDROME:-
The main factor which leads to the development of Zellweger syndrome is Absence or reduction in peroxisomes.


SYMPTOMS OF ZELLWEGER SYNDROME:-
1. Enlarged liver
2. Elevated iron
3. Elevated copper
4. Vision disturbances
5. Prenatal growth failure
6. lack of muscle tone
7. Inability to move
8. Unusual facial characteristics
9. Mental retardation
10. Seizures
11. Poor sucking capability
12. Difficulty swallowing
13. Jaundice
14. Gastrointestinal bleeding

DIAGNOSIS OF ZELLWEGER SYNDROME:-
Clinically Zellweger syndrome can be identified by:-
1. MRI.
2. Gene testing.
3. Ultrasound.
4. X-ray.


TREATMENT OF ZELLWEGER SYNDROME:-
So far there is no cure for Zellweger syndrome, nor is there a standard course of treatment. Zellweger syndrome should be guarded to prevent complications such as pneumonia and respiratory distress. Other treatment is symptomatic and supportive.

 

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