Neuropediatrics

The mechanistic target of the rapamycin signaling pathway serves as a central regulator of cell metabolism, growth, proliferation and survival. In its regulation, the GTPase-activating protein activity toward Rags1 complex has an inhibitory effect. Mutations in genes encoding this complex protein are among the most common abnormalities in focal epilepsies. Within these mutations, the mutations affecting the DEPDC5 gene have been associated with different autosomal dominantly inherited epilepsy types. Due to the limited data available on mTOR inhibitor therapy in non-tuberous sclerosis complex epileptic patients, here we present the clinical management of a patient with intractable epilepsy, skin hypopigmentation and a DEPDC5 variant...

Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early contractures, progressive muscle weakness, and cardiac abnormalities. Different subtypes of EDMD have been described, with the two most common forms represented by the X-linked EDMD1, caused by mutations in the EMD gene encoding emerin, and the autosomal EDMD2, due to mutations in the LMNA gene encoding lamin A/C. A clear definition of the magnetic resonance imaging (MRI) pattern in the two forms, and especially in the rarer EDMD1, is still lacking, although a preferential involvement of the medial head of the gastrocnemius has been suggested in EDMD2...

BACKGROUND:  Although it is a valuable option for children with drug-resistant epilepsy, ketogenic diet (KD) therapy is associated with several side effects. The frequency of kidney stones and risk factors for their development in epileptic children receiving KD is unclear. The aim of this study was to determine the frequency and risk factors for the development of renal stones in children receiving KD therapy. METHOD:  A total of 95 patients receiving KD were identified...

BACKGROUND:  Wolf-Hirschhorn syndrome (WHS) is caused by deletion of the terminal region of chromosome 4 short arm and is frequently associated with intractable epilepsy. OBJECTIVE:  This article evaluates the clinical features of epileptic seizures in WHS and the therapeutic efficacy of oral antiseizure medications (ASMs) METHODS:  Patients with WHS who were treated for epilepsy at the Saitama Children's Medical Center under 5 years of age were included...

Children with Duchenne Muscular Dystrophy (DMD) are at risk of experiencing fatigue that negatively impacts their health-related quality of life (HRQoL). This study aimed to assess the association between fatigue and HRQoL, by examining fatigue trajectories over 48 weeks, and assessing factors associated with these fatigue trajectories. The study sample consisted of 173 DMD subjects enrolled in a 48-week long phase 2 clinical trial (NCT00592553) for a novel therapeutic who were between the ages of 5 and 16 years...

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INTRODUCTION: Acute occlusion of the anterior spinal artery and subsequent spinal ischemic infarction lead to anterior spinal artery syndrome characterized by back pain and bilateral flaccid paresis with loss of protopathic sensibility. As a rare cause fibrocartilaginous embolism has been described and is associated with sports or unusual strain. CASE REPORT: Following gymnastic exercise the day before symptom-onset, the 11 y.o. girl presented with neck pain, paresis of arms and legs and impaired deep tendon reflexes...

BACKGROUND: A relevant number of visits to pediatric emergency departments (pED) are associated to mild traumatic brain injury (mTBI). On March 16th 2020, the Bavarian government declared a first full lockdown (LD) related to the COVID-19 pandemic. AIM: The aim of the study was to investigate the impact of LD on pediatric mTBI. METHODS: Retrospective chart review of presentations to a pED due to mTBI. Study periods covered LD (03/17/2020 through 05/05/2020) and the same time in 2017, 2018, and 2019 as reference period (RP)...

BACKGROUND: Different types of electrical stimulation (ES) showed diverse effects on children with cerebral palsy (CP). Previous studies reported inconsistent results for effect of ES on children with CP. The present study aimed to make a meta-analysis to summarize these diverse results. METHODS: We searched for studies exploring effect of ES on children with CP in databases (Pubmed and Web of Science) from their inception until December, 2022. Standard mean differences (SMDs) and 95% confidence intervals (CIs) were computed using STATA 12...

BACKGROUND AND PURPOSE: Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to progressive demyelination and, consecutively, to cognitive and motor decline. Brain MRI can detect affected white matter as T2 hyperintense but cannot quantify the gradual microstructural process of demyelination more accurately. Our study aimed to investigate the value of routine MR diffusion tensor imaging in assessing disease progression. MATERIALS AND METHODS: MR diffusion parameters (ADC and FA) were in the frontal white matter (FWM), central region (CR) and posterior limb of the internal capsule (PLIC) in 111 MR data sets from a natural history study of 83 patients (age 0...

AIM:  Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare autoimmune disorder. Approximately half of the cases are associated with neuroblastoma in children. This study's aim is to review management of our cases with OMAS-associated neuroblastoma for treatment approach as well as long-term follow-up. METHODS:  Age at onset of symptoms and tumor diagnosis, tumor location, histopathology, stage, chemotherapy, OMAS protocol, surgery, and follow-up period were evaluated retrospectively in six patients between 2007 and 2022...

Subdural hemorrhages (SDHs) in the pediatric population are associated with a high mortality and morbidity and may present in the context of abusive head trauma. Diagnostic investigations for such cases often include evaluation for rare genetic and metabolic disorders that can have associated SDH. Sotos syndrome is an overgrowth syndrome associated with macrocephaly and increased subarachnoid spaces and rarely with neurovascular complications. Here, we report two cases of Sotos syndrome, one with SDH during infancy who underwent repeated evaluation for suspected child abuse prior to the Sotos syndrome diagnosis and the other with enlarged extra-axial cerebrospinal fluid spaces, demonstrating a possible mechanism for SDH development in this setting...

DEPDC5 is an upstream repressor of the mTOR pathway via the GATOR-1 complex. Pathogenic variants causing loss-of-function typically result in Familial Focal Epilepsy with Variable Foci. Neuroimaging may either be normal or show brain malformations. Lesional and non-lesional cases may be present within the same family. Here, we describe a parent-child dyad affected by a truncating DEPDC5 pathogenic variant (c.727C>T; p.Arg243*), analyse the epilepsy clinical course and describe neuroimaging characteristics from a 3T brain MRI...

BACKGROUND:  Two-thirds of patients with Duchenne muscular dystrophy (DMD) have cognitive and neuropsychiatric problems. Concerning their quality of life, negative factors are the lack of qualifying education and social participation in sporting and leisure activities. Adapted assistance in education and participation in social life are thus important. During the coronavirus disease 2019 (COVID-19) pandemic, the pediatric population was less severely impacted by the disease, but by the restrictions associated...

Autosomal dominant mutations of KCNQ2 gene cause two epileptic disorders: Benign Familial Infantile Epilepsy (BFIE) and Early Onset Epileptic Encephalopathy (EOEE). Identifying the best reported therapy for these patients is the aim of this systematic Methods: we searched on Pubmed using the search terms "KCNQ2" AND "therapy" and "KCNQ2" AND "treatment"; we found 304 papers, of these, 29 met our criteria. We selected the data of 194 patients. All 29 papers were retrospective studies. Results: 104 patients were classified as EOEE, 90 as BFIE...

INTRODUCTION:  Family burden (FB) in pediatric patients with drug-resistant epilepsy (DRE) is significantly higher than that in children with non-DRE. Epilepsy surgery is an established approach to treat DRE, and this study examines the impact of pediatric epilepsy surgery on FB. METHODS:  We retrospectively analyzed data of families and pediatric patients with focal structural DRE treated with epilepsy surgery at our epilepsy center from April 2018 to November 2021...

A 9-month-old male child, born of second-degree consanguinity, presented with a progressively enlarging head since early infancy. The child had normal early development, but further acquisition of milestones after 6 months was delayed. He had afebrile seizures at 9 months, followed by the appearance of appendicular spasticity. First magnetic resonance imaging (MRI) showed nonenhancing, diffuse, bilaterally symmetrical T1/fluid-attenuated inversion recovery (FLAIR) hypointensity and T2 hyperintensity of the cerebral white matter and anterior temporal cysts...

Mitochondrial leukodystrophies constitute a group of different conditions presenting with a wide range of clinical presentation but with some shared neuroradiological features. Genetic defects in NUBPL have been recognized as cause of a pediatric onset mitochondrial leukodystrophy characterized by onset at the end of the first year of life with motor delay or regression and cerebellar signs, followed by progressive spasticity. Early magnetic resonance imagings (MRIs) show white matter abnormalities with predominant involvement of frontoparietal regions and corpus callosum...

PURPOSE:  Defining focality of febrile seizures (FS) in clinical practice remains controversial. We investigated focality issues in FS with a postictal arterial spin labeling (ASL) sequence. METHODS:  We retrospectively reviewed 77 children (median: 19.0 months, range: 15.0-33.0 months) who consecutively visited our emergency room for FS and underwent brain magnetic resonance imaging (MRI), including the ASL sequence, within 24 hours of seizure onset...

AIM:  This study aimed to evaluate the effectiveness of melatonin in treating insomnia in children with autism spectrum disorder (ASD). METHODS:  Comprehensive searches were conducted in the PubMed, EMBASE, and Web of Science databases from their inception to April 20, 2022. Data were extracted and assessed for quality by two researchers. Statistical analysis was performed using the Stata 15.0 software. RESULTS:  Four studies including 238 patients were included...