Purpose Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability and congenital malformations including Hirschsprung disease, genital and eye anomalies and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. To date, no characteristic pattern of brain dysmorphology in MWS has been defined. Methods Through brain MRI analysis, we delineate a neuroimaging phenotype in 54 MWS patients with a proven ZEB2 defect, compare it with the features identified in a thorough review of published cases, and evaluate genotype-phenotype correlations. Results 96% of patients had abnormal MRI. The most common features were anomalies of corpus callosum (79.6% of cases), hippocampal abnormalities (77.8%), enlargement of cerebral ventricles (68.5%), white matter abnormalities (reduction of thickness 40.7%, localized signal alterations 22.2%). Other consistent findings were large basal ganglia, cortical and cerebellar malformations. Most features were underrepresented in the literature. We also found ZEB2 variations leading to synthesis of a defective protein to be favourable for psychomotor development and some epilepsy features, but also associated with corpus callosum agenesis. Conclusion This study delineates the spectrum of brain anomalies in MWS and at the same time adds new insights in elucidating the role of ZEB2 in neurodevelopment.

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In our experience, we have observed that conscious sedation can be safely administered by neuroradiologists during spinal procedures, provided that some basic rules are respected regarding patient selection and monitoring, personnel training and angiography equipment.

Introduction: Neuroradiological techniques are known for their high spatial resolution in imaging of intracranial structures, in comparison with neurosonological techniques (TCCS), known for their high temporal resolution. An ideal study of intracranial circulation should combine the high temporal resolution of ultrasound with the high spatial resolution of Magnetic Resonance (MR) Imaging. This imaging fusion system is actually used for the ultrasound liver examination and it is known as Virtual Navigator. Therefore we implemented this system for the examination of the intracranial venous hemodynamics. Patients and methods: Fifteen consecutive subjects (7 men and 8 women, mean age 51.5 ± 8.64 years) were chosen among patients who underwent standard TCCS examinations at our lab and had age >18 years, a suitable temporal acoustic window and a recently performed intracranial MR venography. The axial scanning approach was used from the temporal window and the standard TCCS examination was compared with the Virtual Navigator examination, for the insonation rate of the basal vein of Rosenthal (BVR), Galen vein (GV), Straight sinus (SRS) and Transverse sinus (TS). Results and discussion: The insonation rates of the venous structures are only slightly improved for BVR (from 90% to 96.67%) but are substantially increased for SRS and TS (for this last one from 63.33% to 86.67%) with a statistically significant difference (p < 0.05). Conclusions: The Virtual Navigator protocol can help to insonate the intracranial venous system.