zellweger syndrome
Medical Definition
Autosomal recessive peroxisomal disorder, also known as zellweger syndrome, 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.
Wikipedia Summary
Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies...
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