Cerebrohepatorenal syndrome definition - medical term
A genetic disorder, which is also called
the Zellweger syndrome, characterized by the reduction or absence of peroxisomes
(cell structures that rid the body of toxic substances) in the cells of the liver,
kidneys, and brain. Zellweger syndrome is one of a group of disorders called the
leukodystrophies, all of which affect the myelin sheath, the fatty covering which
acts as an insulator on nerve fibers in the brain.
T he most common features of Zellweger syndrome include an enlarged liver, high
levels of iron and copper in the blood, and vision disturbances. Some affected infants
may show prenatal growth failure. Symptoms at birth may include lack of muscle tone
and an inability to move. Other symptoms may include unusual facial characteristics,
mental retardation, seizures, and an inability to suck and/or swallow. Jaundice
and gastrointestinal bleeding may also occur.
There is no cure for Zellweger syndrome and there is no standard course of treatment.
Infections are guarded against to prevent such complications as pneumonia and respiratory
distress. Other treatment is symptomatic and supportive.
The prognosis (outlook) with Zellweger syndrome is poor. Death usually occurs
within 6 months after onset, and may be caused by respiratory distress, gastrointestinal
bleeding, or liver failure.
The syndrome is caused by mutations (changes) in any of several different genes
involved in peroxisome formation. These genes lie on at least two different chromosome
locations including chromosome 2 (region 2p15) and chromosome 7 (region 7q21-q22).
The syndrome is named for the Swiss-born pediatrician Hans Zellweger (1909-1990)
who came to the US and for many years was at the University of Iowa.
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