Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.

Microcephalic osteodysplastic primordial dwarfism (MOPD) type II is a rare disorder characterized by skeletal dysplasia, severe proportionate short stature, insulin resistance and cerebrovascular abnormalities including cerebral aneurysms and moyamoya disease. MOPD type II is caused by mutations in the pericentrin (PCNT) gene, which encodes a protein involved in centrosomes function. We report a 2 year old girl affected by MOPD type II caused by two compound heterozygous loss-of-function variants in PCNT gene, of which one is a novel variant (c.5304delT; p.Gly1769AlafsTer34). The patient presented atypical brain magnetic resonance imaging (MRI) findings consistent with pachygyria. This was confirmed by morphometric analysis of cortical thickness (CT) and gyrification index by comparing MRI data of the patient with a group of eight age-matched healthy controls. The statistical analysis revealed a significant and diffuse increase of CT with an anterior-predominant pattern and diffuse reduced gyrification (p < .05). These findings provide new evidences to the emergent concept that malformations of cortical development are complex disorders and that new genetic findings contribute to the fading of classification borders.

Magnetic resonance imaging based neurosurgical planning on hololens 2: A feasibility study in a paediatric hospital.

Objective: The goal of this work is to show how to implement a mixed reality application (app) for neurosurgery planning based on neuroimaging data, highlighting the strengths and weaknesses of its design. Methods: Our workflow explains how to handle neuroimaging data, including how to load morphological, functional and diffusion tensor imaging data into a mixed reality environment, thus creating a first guide of this kind. Brain magnetic resonance imaging data from a paediatric patient were acquired using a 3 T Siemens Magnetom Skyra scanner. Initially, this raw data underwent specific software pre-processing and were subsequently transformed to ensure seamless integration with the mixed reality app. After that, we created three-dimensional models of brain structures and the mixed reality environment using Unity™ engine together with Microsoft® HoloLens 2™ device. To get an evaluation of the app we submitted a questionnaire to four neurosurgeons. To collect data concerning the performance of a user session we used Unity Performance Profiler. Results: The use of the interactive features, such as rotating, scaling and moving models and browsing through menus, provided by the app had high scores in the questionnaire, and their use can still be improved as suggested by the performance data collected. The questionnaire's average scores were high, so the overall experiences of using our mixed reality app were positive. Conclusion: We have successfully created a valuable and easy-to-use neuroimaging data mixed reality app, laying the foundation for more future clinical uses, as more models and data derived from various biomedical images can be imported.

Surgical management of pediatric intracranial CCM: a 10-year single center experience.

BACKGROUND: Cerebral cavernous malformations (CCMs) are low-flow vascular malformations made up of dilated vascular spaces without intervening parenchyma that can occur throughout the central nervous system. CCMs can occur sporadically or in familial forms. Presentation is diverse, ranging from asymptomatic discoveries to drug-resistant epilepsy and hemorrhages. METHODS: We describe the surgical management of CCMs in pediatric patients at Bambino Gesù Children's Hospital in Rome over the last 10 years. The cases have been stratified based on the clinical presentation and the relevant literature is discussed accordingly. RESULTS: We discuss the rationale and technique used in these cases based on their presentation, as well as the generally positive outcomes we achieved with early surgical management, use of intra-operative ultrasound (ioUS) and intraoperative neuromonitoring. CONCLUSIONS: Surgical management of pediatric CCMs is a safe and effective strategy, low rates of postoperative morbidity and partial resection were observed.

Multiparametric evaluation of low grade gliomas at follow-up: comparison between diffusion and perfusion MR with (18)F-FDOPA PET.

OBJECTIVE: To compare MRI using perfusion and diffusion techniques with 6-[(18)F]-fluoro-L-3,4-dihydroxyphenylalanine ((18)F-FDOPA) positron emission tomography (PET) in the follow-up of low-grade gliomas (LGGs) and to identify the best imaging parameter to differentiate patients with different prognosis. METHODS: Between 2010 and 2015, 12 patients with a pathology-proven diagnosis of LGG and MR (with perfusion and diffusion sequences) and a PET study during their follow-up were retrospectively included in our study. Cerebral blood volume (CBV) and apparent diffusion coefficient (ADC) maps on MR studies and PET images were evaluated using a region of interest-based method. All patients were categorized as stable or as having progressive disease at 1-year follow-up. Statistical analysis was performed using Pearson's correlation test and multivariate analysis of variance (p < 0.05). RESULTS: No significant correlations were found between PET parameters [maximum tumour-to-controlateral normal brain ratio (T/Nmax) and tumour-to-striatum ratio] and ADC or relative CBV values measured in both PET hotspot regions and areas of maximum signal alterations. T/Nmax demonstrated a good sensitivity (83%) and specificity (100%) for differentiating two subgroups of patients with different outcomes at 1-year-follow-up (p < 0.05). CONCLUSION: Perfusion and diffusion MR images provide different information compared with (18)F-FDOPA PET in LGGs during follow-up and therefore, they should be considered as complementary tools in the evaluation of these tumours. (18)F-FDOPA PET showed a significant prognostic role in the follow-up of LGGs and appeared to be a better tool than MR advanced techniques for outcome prediction. These results need to be confirmed with longitudinal studies on a larger population. ADVANCES IN KNOWLEDGE: This is the first study that compared (18)F-FDOPA PET with perfusion and diffusion MR in LGGs during follow-up. These preliminary results highlight the importance of a multimodality approach in this field and evidence a potential role for (18)F-FDOPA PET to predict patients at risk for tumour progression.