Neurological Conditions

Definitions - Neurological Conditions - Z - Zellweger Syndrome

Zellweger Syndrome  is one of a group of related diseases called peroxisome biogenesis disorders (PBD), which are part of a larger group of diseases known as the leukodystrophies.

Zellweger Syndrome - (Named after Hans Zellweger, a former professor of Pediatrics and Genetics at the University of Iowa who did research into the disease.) is one of a group of four related diseases called peroxisome biogenesis disorders (PBD), which are part of a larger group of diseases known as the leukodystrophies.  These are inherited conditions that damage the white matter of the brain and also affect how the body metabolizes particular substances in the blood and organ tissues.  Zellweger syndrome is the most severe of the PBDs.  Infantile Refsum disease (IRD) is the mildest, and neonatal adrenoleukodystrophy and rhizomelic chondrodysplasia have similar but less severe symptoms.

The most common features of Zellweger syndrome include an enlarged liver, high levels of iron and copper in the blood stream, and vision disturbances.

Zellweger syndrome affects many parts of the body, including:

Head and face - enlarged head, high forehead, large anterior fontanelle ("soft spot"), malformed ear lobes, flat-looking face.

Brain and nervous system - abnormal brain development leads to seizures, hearing and vision impairment, profound mental retardation and developmental delay, diminished or absent reflexes.

Liver - enlarged liver with impaired function, jaundice.

Kidneys - renal cysts, hydronephrosis.

Muscles and bones - very low muscle tone (hypotonia), bone defects in the hands, legs, and feet

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. 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.

Alphabetical list of Neurological Disorder Definitions.

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