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MR of Zellweger Syndrome AJNR 18:1163-1170, Barkowich,A.J.&Peck,W.W., 1997 See this aricle in Pubmed Article Abstract The diagnosis of Zellweer syndrome was established in all patients by clinical findings combined with laboratory and MR results.All patients had impaired myelination and diffusely abnormal cortical gyral patterns that consisted of regions of microgyria(primarily in the frontal and perisylvian cortex)together with regions of thickened pachygyric cortex (primarily perirolandic and occipital).The pachygyric regions were in the form of deep cortical infoldings.Germinolytic cysts were visible in the caudothalamic groove in all patients,seen best on coronal or sagittal T1- weighted images.One patient had T1 shortening in the bilateral globus pallidus,presumably related to hepatic dysfunction and hyperbilirubinermia.The combination of hypomyelination,cortical malformations that are most severe in the perisylvian and perirolandic regions,and germinolytic cysts are highly suggestive of Zellweger syndrome in the proper clinical setting.

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