Neuroradiologic findings in Marinesco-Sjögren syndrome.

PURPOSE Our purpose was to determine the neuroradiologic findings of Marinesco-Sjögren syndrome on plain skull radiographs, CT, and MR images. METHODS Eight patients with proved Marinesco-Sjögren syndrome (age range, 4 to 56 years) had a total of nine CT scans, seven MR imaging studies, and two plain radiographic examinations of the skull. The findings were reviewed retrospectively, with particular attention to the size of the posterior fossa and cerebellum. RESULTS All patients had hypoplastic cerebellar hemispheres and a hypoplastic vermis in a small posterior fossa. One patient had a midline posterior fossa cyst and another had agenesis of the corpus callosum. CONCLUSION Hypoplasia of the cerebellar hemispheres and the vermis and a small posterior fossa are the most prominent neuroradiologic findings in Marinesco-Sjögren syndrome.