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Washington University Experience | DEVELOPMENTAL MALFORMATIONS | Zellweger Syndrome | 2A1 Zellweger Cerebrohepatorenal Syndrome (Case 2) 2
Case 2 - This second case of Zellweger syndrome was characterized by craniofacial dysmorphism, multiple renal cortical microcysts and hepatic cirrhosis as well as ultrastructural absence of liver peroxisomes. ---- The main neuropathologic findings include polymicrogyria, neuronal heterotopia, hypoplasia of ION and extensive white matter astrocytosis. ---- The dorsal view of the cerebral hemispheres shows only hints of maldevelopment.
