Zellweger Syndrome
| Medical Definition: |
An autosomal recessive peroxisomal disorder that typically presents in the neonatal period and is usually fatal. Clinical features include hypotonia, dysmorphic skull and facial bones, visual compromise, multifocal seizures, hepatomegaly, biliary dysgenesis, and swallowing difficulties. Pathologically, there are migration deficits of the neocortex and degeneration of white matter tracts. Zellweger-like syndrome refers to conditions that phenotypically resemble neonatal Zellweger syndrome, but occur in childhood or adulthood (From Adams et al., Principles of Neurology, 6th ed, p946) |
| Also Called: |
Zellweger-Like Syndrome |
| Previously Indexed: |
Abnormalities, Multiple (1968-1988),Brain Diseases (1966-1988),Kidney Diseases (1966-1988),Liver Diseases (1966-1988) |
Zellweger Syndrome Medical Definitions and Terms
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