Zellweger syndrome is an autosomal recessive disease which is caused by mutations in genes that encode peroxins, proteins required for the normal assembly of peroxisomes. It is characterized by the reduction or absence of functional peroxisomes in the tissue cells of an individual. Individuals with Zellweger syndrome can show a reduction in central nervous system (CNS) myelin (particularly cerebral), which is referred to as (hypomyelination). Myelin is critical for normal central nervous system functions and, in this regard, serves to insulate nerve fibers in the brain. Thus, it is associated with impaired neuronal migration, neuronal positioning, and brain development. Zellweger syndrome can also affect the function of many other organ systems. Patients can show craniofacial abnormalities, such as a high forehead, hypoplastic supraorbital ridges, epicanthal folds, midface hypoplasia, and a large fontanel. Currently, 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.
Zellweger syndrome is one of a family of disorders called leukodystrophies. This syndrome is named after Hans Zellweger, a former professor of Pediatrics and Genetics at the University of Iowa whom researched this disorder.