《英文msh詞典》Zellweger Disease
[入口詞] Zellweger Disease
[主題詞] Zellweger Syndrome
[英文釋義] 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)