Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.

BACKGROUND AND PURPOSE: Sotos syndrome is a rare autosomal dominant condition caused by pathogenic mutations in the NSD1 gene that presents with craniofacial dysmorphism, overgrowth, seizures, and neurodevelopmental delay. Macrocephaly, ventriculomegaly, and corpus callosal dysmorphism are typical neuroimaging features that have been described in the medical literature. The purpose of this study was to expand on the neuroimaging phenotype by detailed analysis of a large cohort of patients with genetically proved Sotos syndrome. MATERIALS AND METHODS: This multicenter, multinational, retrospective observational cohort study systematically analyzed the clinical characteristics and neuroimaging features of 77 individuals with genetically diagnosed Sotos syndrome, via central consensus review with 3 pediatric neuroradiologists. RESULTS: In addition to previously described features, malformations of cortical development were identified in most patients (95.0%), typically dysgyria (92.2%) and polymicrogyria (22.1%), varying in location and distribution. Incomplete rotation of the hippocampus was observed in 50.6% of patients and was associated with other imaging findings, in particular with dysgyria (100% versus 84.2%, P = .012). CONCLUSIONS: Our findings show a link between the genetic-biochemical basis and the neuroimaging features and aid in better understanding the underlying clinical manifestations and possible treatment options. These findings have yet to be described to this extent and correspond with recent studies that show that NSD1 participates in brain development and has interactions with other known relevant genetic pathways.

Extraneural metastasis of an ependymoma: a rare occurrence.

Extraneural metastases of ependymoma are very rare, and have been reported in the lungs, lymph nodes, pleura, mediastinum, liver, diaphragmatic muscle, and bone. We describe the radiological findings of pathologically proven lung metastases from an anaplastic ependymoma. The tumor which arose in the posterior fossa was first diagnosed in 2007 when first surgical resection was performed outside our institute. Multiple operations were performed after that due to tumor relapse. Multiple lung nodules were discovered incidentally during a VP shunt survey. Biopsy from the lung nodules displayed identical histomorphology to the primary brain tumor.

An atypical case of intracerebral schwannoma.

We report a case of intracerebral cystic schwannoma in the temporal fossa manifested as a gradually worsening headache in a 49-years-old woman. Computed Tomography (CT) and magnetic resonance imaging (MRI) showed a left temporal partly cystic, partly solid mass. The preoperative diagnosis was astrocytoma or glioblastoma multiforme (GBM), but microscopic examination of the mass showed the characteristic pattern with cellular Antony A component. Immunohistochemically, the tumor was positive for S-100 protein. These findings are consistent with a schwannoma. Intracerebral schwannomas not related to cranial nerves are rare and most reported cases involved young patients.