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Charcot–Marie–Tooth's disease type 2A (MCT2A), induced by mutation of the mitofusin 2 (MFN2) gene represents the main cause of MCT2. The aim of this study is to provide details of the clinical and electromyographic phenotype of MCT2A in a pediatric population. We conducted a French multicenter retrospective study, including all children with a genetic diagnosis of MCT2A. Thirteen MCT2A children were included with a beginning of symptoms before the age of 10 years ("early-onset group"). We report two new mutations: c.1070 A → T (p.Lys357.Met) and c.280 C → G (p.Arg94Gly). The evolution of the disease is marked by a fast worsening for three patients with loss of motor autonomy, while the evolution is relatively stable for eight patients. The group of early-onset MCT2A seems more heterogeneous than previously described, with a nonconstant severe phenotype. [ABSTRACT FROM AUTHOR]

Introduction Valproic acid (VPA) is rarely used in neonatal period. In children under 2 years old, serious adverse effects are appear to be more frequent. Aim The aim of our study is to report the adverse effects observed in a population of full-term newborns treated with VPA. Method Full-term newborns, hospitalized at the Toulouse CHU, who presented with neonatal seizures and who received long-term treatment with VPA between 2004 and 2014 were included. Results For 5 of the 123 newborns treated with VPA, treatment had to be discontinued due to adverse effects. Three patients presented with disturbances in consciousness within 48 hours of treatment initiation, one case with a moderate overdose and two with hyperammoniemia (157 and 327 μmol/L) without any drug overdose or underlying liver or metabolic disease (VPA-induced hyperammonemic encephalopathy). Two patients presented with secondary hematological alterations. No patient presented with liver toxicity or exacerbation of an underlying metabolic disease. Conclusion While the serious adverse effects of VPA notedwere all reversiblewith the discontinuation of the treatment, the occurrence of encephalopathies with hyperammoniemia is a serious complication that is potentially lethal and calls for close clinicalmonitoring of newborns treated with valproate.We provide precautions for the implementation and follow-up of VPA in newborns. [ABSTRACT FROM AUTHOR]

Maëlle Biotteau,1 Jérémy Danna,2 Éloïse Baudou,3 Frédéric Puyjarinet,4 Jean-Luc Velay,2 Jean-Michel Albaret,1,5 Yves Chaix1,31ToNIC, Toulouse NeuroImaging Center, University of Toulouse, Inserm, UPS, Toulouse, France; 2Cognitive Neurosciences Laboratory, CNRS-Aix Marseille University, Marseille, France; 3Pediatric Neurology Unit, Children’s Hospital, Purpan University Hospital, Toulouse, France; 4EuroMov Laboratory, University of Montpellier, Montpellier, France; 5Psychomotor Training Institute, University of Toulouse Paul Sabatier, Toulouse, FranceAbstract: Developmental coordination disorder (DCD) is a common and well-recognized neurodevelopmental disorder affecting approximately 5 in every 100 individuals worldwide. It has long been included in standard national and international classifications of disorders (especially the Diagnostic and Statistical Manual of Mental Disorders). Children and adults with DCD may come to medical or paramedical attention because of poor motor skills, poor motor coordination, and/or impaired procedural learning affecting activities of daily living. Studies show DCD persistence of 30–70% in adulthood for individuals who were diagnosed with DCD as children, with direct consequences in the academic realm and even beyond. In particular, individuals with DCD are at increased risk of impaired handwriting skills. Medium-term and long-term prognosis depends on the timing of the diagnosis, (possible) comorbid disorders (and their diagnosis), the variability of signs and symptoms (number and intensity), and the nature and frequency of the interventions individuals receive. We therefore chose to investigate the signs and symptoms, diagnosis, and rehabilitation of both DCD and developmental dysgraphia, which continues to receive far too little attention in its own right from researchers and clinicians.Keywords: developmental coordination disorder, developmental dysgraphia, clinical expressions, diagnosis, therapy, assessment tools

Specific brain structures are involved in the different mnesic systems: hippocampus in episodic and semantic memory, striatum in sequence learning part of procedural memory and cerebellum in motor adaptation part of procedural memory and working memory. The aim of this work was to explore the impact of irradiation at brain structures involved in memory on long-term memory outcomes in children treated for posterior fossa tumor (PFT). We investigated mnesicsystems, using a large battery of neuropsychological tools in 60 participants included in the prospective IMPALA study (NCT04324450) divided into three groups: 39 cured from a PFT in childhood (22 irradiated (PFT+RT group) and 17 non-irradiated (PFT group)) and 21 healthy volunteers matched on age, sex and handedness with the PFT+RT group. ANOVA and mixed models were used for statistical comparisons between groups. Mean and maximum irradiation doses at hippocampus, caudate nucleus, putamen, posterior and anterior cerebellum were collected from the initial dosimetry plan and Spearman correlations were used with neuropsychological scores in irradiated group. Verbal working memory, semantic memory and motor adaptation part of procedural memory were impaired in both PFT+RT and PFT groups. Visual working memory, episodic memory and sequence learning part of procedural memory were impaired in PFT+RT group. Sequence learning part of procedural memory was more impaired the higher the maximum dose to the right putamen (r:-0.493, p=0.034). Episodic memory impairment was correlated to the higher the mean dose the right and left hippocampi in three different neuropsychological tools, with a higher correlation with right hippocampus (r: -0.622; p=0.004; r:-0.595;p=0.007 and r:-0.673; p=0.002). All mnesic systems were impaired in PFT when they were treated with radiotherapy with a dose impact at striatum and hippocampi on procedural and episodic memory. This is a step toward defining dose constraints to these structures in the future. [ABSTRACT FROM AUTHOR]

Abstract Cardiac arrhythmia with sudden death is rare in children but mainly due to ventricular tachycardia. In case of pulseless ventricular tachycardia, prehospital treatment is crucial with immediate cardiopulmonary resuscitation and external electrical cardioversion. We report the case of pulseless ventricular tachycardia in a child with no past medical history. Sinus rhythm was obtained after 12 min of cardiorespiratory resuscitation and three external electrical shocks. An exhaustive diagnostic approach allow us to find its origin. The clinical progression was marked by a severe encephalopathy. The authors discuss different etiologies and treatment of arrhythmia in children, reviewing the pediatric algorithm for shockable rhythm. [ABSTRACT FROM AUTHOR]