Disease Information for Zellweger Cerebrhepatorenal syndrome: Definition

  • Zellweger Syndrome; Bowen Syndrome; Cerebrohepatorenal Syndrome; this is a rare, hereditary disorder characterized by a deficiency or absence of peroxisomes in the cells of the liver, kidneys, and brain; Peroxisomes are very small, membrane-bound structures within the cytoplasm of cells that function as part of the body’s waste disposal system; In the absence of the enzymes normally found in peroxisomes, waste products, especially very long chain fatty acids (VLCFA), accumulate in the cells of the affected organ; The accumulation of these waste products has profound affects on the development of the fetus;

    Zellweger syndrome is one of a group of genetic disorders known as leukodystrophies that affect growth of the myelin sheath, which lines nerve fibers in the brain and speeds the conduction of nerve impulses;

    -----------------------[nord website 2006]-------------The 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, nor is there a standard course of treatment; Infections should be guarded against to prevent such complications as pneumonia and respiratory distress; Other treatment is symptomatic and supportive; prognosis:The prognosis for individuals 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----------------------[NINDS Website 2006