Cytopathies mitochondriales (déficit isolé et complexe I et leucodystrophie : vers une corrélation radio-génétique?)

Les cytopathies mitochondriales représentent la première cause de troubles métaboliques congénitaux. Le point commun de ces pathologies est un déficit des capacités de phosphorylation oxydative de la chaine respiratoire, source universelle d'énergie pour toutes les cellules de l'organisme. Les cytopathies mitochondriales regroupent un vaste ensemble de pathologies très hétérogènes du point de vue clinique, biochimique et génétique. Cette grande disparité est probablement à l'origine de l'absence de corrélation radiologique dans la littérature. Dans ce travail, nous avons étudié l'imagerie cérébrale de 35 sujets atteints de déficit isolé du complexe I, avec mutation génétique identifiée. Nous avons focalisé notre étude sur l'aspect des leucodystrophies chez ces patients. Nous avons ainsi pu isoler un pattern de lésions caractéristiques des leucodystrophies ~, par déficit en complexe I, associant notamment une atteinte cavitaire diffuse de la substance blanche, une atteinte systématique du tronc cérébral et une détection de lactates en imagerie métabolique. La présence de tels indices en imagerie par résonance magnétique nucléaire et en spectroscopie par résonance magnétique nucléaire permet ainsi d'orienter le généticien vers la recherche de mutations bien définies de gènes nucléaires codant pour une sous unité du complexe I ou pour son assemblage.ROUEN-BU Médecine-Pharmacie (765402102) / SudocSudocFranceF

Cerebral sinovenous thrombosis associated with head/neck infection in children: Clues for improved management

International audienceAim: To compare paediatric patients with cerebral sinovenous thrombosis (CSVT) with and without head/neck infection to improve management of the condition.Method: We conducted a bicentric retrospective study of consecutive children (neonates excluded) with radiologically confirmed CSVT, comparing children with a concurrent head/neck infection and children with other causes.Results: A total of 84 consecutive patients (46 males and 38 females) with a median age of 4 years 6 months (range 3 months–17 years 5 months) were included. Associated head/neck infection was identified in 65.4% of cases and represented the main identified CSVT aetiology. Children in the head/neck infection group displayed a milder clinical presentation and less extensive CSVT. Median time to complete recanalization was significantly shorter in this group (89 days [interquartile range 35–101] vs 112.5 days [interquartile range 83–177], p = 0.005). These findings were even more pronounced in the subgroup of patients with otogenic infection and no neurological sign.Interpretation: As CSVT in the setting of an otogenic infection and no neurological sign seems to represent a milder condition with a shorter course, these results suggest adapting current recommendations: consider earlier control imaging in paediatric otogenic CSVT, and shorter anticoagulant treatment if recanalization is obtaine

Neural basis of interindividual variability in social perception in typically developing children and adolescents using diffusion tensor imaging

International audienceHumans show great interindividual variability in the degree they engage in social relationship. The neural basis of this variability is still poorly understood, particularly in children. In this study, we aimed to investigate the neural basis of interindividual variability in the first step of social behavior, that is social perception, in typically developing children. For that purpose, we first used eye-tracking to objectively measure eye-gaze processing during passive visualization of social movie clips in 24 children and adolescents (10.5 ± 2.9 y). Secondly, we correlated eye-tracking data with measures of fractional anisotropy, an index of white matter microstructure, obtained using diffusion tensor imaging MRI. The results showed a large interindividual variability in the number of fixations to the eyes of characters during visualization of social scenes. In addition, whole-brain analysis showed a significant positive correlation between FA and number of fixations to the eyes,mainly in the temporal part of the superior longitudinal fasciculi bilaterally, adjacent to the posterior superior temporal cortex. Our results indicate the existence of a neural signature associated with the interindividual variability in social perception in children, contributing for better understanding the neural basis of typical and atypical development of a broader social expertise

Comprehensive review of 3D segmentation software tools for MRI usable for pelvic surgery planning

International audience<p>Background: Patient specific 3D modeling is the first step towards image-guidedsurgery, the actual revolution in surgical care. Pediatric and adolescent patients withrare tumors and malformations should highly benefit from these latest technologicalinnovations, allowing personalized tailored surgery. This study focused on the pelvicregion, located at the crossroads of the urinary, digestive and genital channels withimportant vascular and nervous structures. The aim of this study was to evaluate theperformances of different software tools to obtain patient specific 3D models, throughsegmentation of magnetic resonance images (MRI), the reference for pediatric pelvisexamination.Methods: Twelve software tools freely available on the Internet and two commercialsoftware tools were evaluated using T2-w MRI and diffusion- weighted MRI images.The software tools were rated accordingly to eight criteria, evaluated by three differentusers: automatization degree, segmentation time, usability, 3D visualization, presenceof image registration tools, tractography tools, supported OS, and potential extension(i.e. plugins).Results: A ranking of software tools for 3D modeling of MRI medical images, accordingto the set of predefined criteria, was given. This ranking allowed us to elaborateguidelines for the choice of software tools for pelvic surgical planning in pediatricpatients. The best-ranked software tools were Myrian Studio, ITK-SNAP and 3D Slicer,the latter being especially appropriate if nerve fibers should be included in the 3Dpatient model.Conclusion: This study proposed a comprehensive review of software tools for 3Dmodeling of the pelvis according to a set of eight criteria, and delivered specificconclusions for pediatric and adolescent patients that can be directly applied to clinicalpractice.</p

Appraisal of sacral nerve injury by pelvic neurotractography after robotic surgery for a sacral neurofibroma in a 12 years old girl

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Nervous System Exploration Using Tractography To Enhance Pelvic Surgery

International audience<p>Pelvic surgery raises the challenge of preser-vation of nerves that handle urinary, gen-ital and digestive functions, especially insituations where these structures may be modi-fied by tumors or malformations. Recent workson 3D nerve visualization, that rely on cadaversdissections [1, 3] or intra-operative use of probesdetecting myelin-binding fluorophores [5], donot provide pre- or post-operative analysis ofthe pelvic nervous anatomy. Magnetic reso-nance neurography as in [12] requires a slice byslice manual segmentation of the nerves. Dif-fusion MRI, associated with tractography algo-rithms, is currently the only technique allow-ing for in-vivo exploration of the nervous net-work [2] with no need for manual nerve segmen-tation. In contrast to brain imaging that moti-vated a lot of work, only few studies focus on pe-ripheral nerves visualization [9, 10, 14]. In thispaper, we propose a method for pelvic tractog-raphy analysis based on patient-specific organsegmentation. It is demonstrated with promis-ing results on a healthy adult subject.</p

Analysis of the sacral plexus anatomy using diffusion tensor MRI based neurotractography, according to spinal dysraphism, sacral anomaly and type of anorectal malformation

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Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.

[en] BACKGROUND: Wolman disease (WD), the rapidly progressive phenotype of lysosomal acid lipase (LAL) deficiency, presents in neonates with failure to thrive and hepatosplenomegaly, and leads to multi-organ failure and death before 12 months of age. In clinical trials, enzyme replacement therapy (ERT) with sebelipase alfa led to improved survival, growth and biological parameters in WD patients followed up to 5 years. Long-term follow-up and health-related quality of life (HRQoL) evaluation are lacking. RESULTS: We performed a nationwide, retrospective study of sebelipase alfa in WD patients. Five patients with abolished LAL activity and bi-allelic LIPA mutations were included with a median follow-up of 7 years (1-10). ERT was initiated at a median age of 1 month (0-4). Infusion tolerance was excellent on the long-term with only one patient requiring systematic pre-medication. Cholestyramine, fat-soluble vitamin supplements and a specific diet (high in medium-chain triglycerides and low in long-chain fatty acids) were prescribed. Liver function tests, plasma lipid profiles, fat-soluble vitamin levels and growth parameters improved. Three patients transiently exhibited a neuromyopathic phenotype (footdrop gait, waddling walk or muscle fatigue) but electromyography and muscle strength testing were normal. At last follow-up, all patients were alive with normal growth parameters and a satisfactory HRQoL, no patient had special education needs, and one patient required parenteral nutrition since an acute gastroenteritis. CONCLUSIONS: Early ERT initiation allowed 100% survival with positive outcomes. Very long-term follow-up and hematopoietic stem cell transplantation while on ERT should be evaluated to strengthen the benefits of sebelipase alfa

Towards building 3D individual models from MRI segmentation and tractography to enhance surgical planning for pediatric pelvic tumors and malformations

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