Zellweger syndrome
Zellweger Syndrome
Zellweger syndrome (pronounced: zel-weg-er sin-drome), also known as Zellweger spectrum disorder or cerebrohepatorenal syndrome, is a rare, congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual.
Etymology
The syndrome is named after the Swiss-American pediatrician, Dr. Hans Zellweger (1909–1990), who researched and described the condition in detail in the 1960s.
Definition
Zellweger syndrome is a genetic disorder that is caused by mutations in genes that encode for proteins required for the normal function of peroxisomes. Peroxisomes are small organelles within cells that play crucial roles in numerous metabolic processes, including the breakdown of very long chain fatty acids (VLCFAs) and certain biochemical compounds.
Symptoms
The symptoms of Zellweger syndrome may include poor muscle tone (hypotonia), hearing and vision loss, seizures, liver dysfunction (hepatomegaly), and distinctive facial features. The severity and range of symptoms can vary widely among affected individuals.
Diagnosis
Diagnosis of Zellweger syndrome is based on clinical evaluation, detailed patient history, and specialized tests such as biochemical assay tests, genetic testing, and imaging studies.
Treatment
There is currently no cure for Zellweger syndrome. Treatment is symptomatic and supportive, and may include physical therapy, medications to control seizures, and hearing aids or cochlear implants for hearing loss.
Prognosis
The prognosis for individuals with Zellweger syndrome is generally poor, with most individuals not surviving past the first year of life. However, some individuals with milder forms of the disorder may live into adolescence or adulthood.
See Also
External links
- Medical encyclopedia article on Zellweger syndrome
- Wikipedia's article - Zellweger syndrome
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