Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.

Objective: The aim of this study was to characterize a novel pathogenic variant in the transient receptor potential vanilloid 4 (TRPV4) gene, causing familial nonsyndromic craniosynostosis (CS) with complete penetrance and variable expressivity.

Methods: Whole-exome sequencing was performed on germline DNA of a family with nonsyndromic CS to a mean depth coverage of 300× per sample, with greater than 98% of the targeted region covered at least 25×. In this study, the authors detected a novel variant, c.

A needs assessment of pediatric epilepsy surgery in Haiti.

Objective: Epilepsy disproportionately affects low- and/or middle-income countries (LMICs). Surgical treatments for epilepsy are potentially curative and cost-effective and may improve quality of life and reduce social stigmas. In the current study, the authors estimate the potential need for a surgical epilepsy program in Haiti by applying contemporary epilepsy surgery referral guidelines to a population of children assessed at the Clinique d'Épilepsie de Port-au-Prince (CLIDEP).

Assessment and treatment of childhood epilepsy in Haiti.

Objective: The global burden of pediatric epilepsy is disproportionately concentrated in low- and middle-income countries (LMICs). However, little is known about the effectiveness of current treatment programs in this setting. We present the outcomes of children who were assessed and treated at the Clinique D'Épilepsie de Port-au-Prince (CLIDEP), the only pediatric epilepsy referral center in Haiti.

Eight-Year Experience With 3-T Intraoperative MRI Integration in Focal Pediatric Epilepsy Surgery: Impact on Extent of Resection, Residual Volumes, and Seizure Outcomes.

The purpose of this study was to investigate the influence of 3-T intraoperative MRI (ioMRI) on the extent of resection of pediatric focal epileptogenic lesions, residual lesion volumes, and postoperative seizure outcomes. All surgical procedures for focal epilepsy from 2003 to 2017 were retrospectively reviewed. Patients were divided into two groups: those who underwent ioMRI and those who did not.

Thalamostriatal degeneration contributes to dystonia and cholinergic interneuron dysfunction in a mouse model of Huntington's disease.

Huntington's disease (HD) is an autosomal dominant trinucleotide repeat disorder characterized by choreiform movements, dystonia and striatal neuronal loss. Amongst multiple cellular processes, abnormal neurotransmitter signalling and decreased trophic support from glutamatergic cortical afferents are major mechanisms underlying striatal degeneration. Recent work suggests that the thalamostriatal (TS) system, another major source of glutamatergic input, is abnormal in HD although its phenotypical significance is unknown.

Hydrocephalus-induced neurogenic stunned myocardium and cardiac arrest in a child: completely reversed with CSF diversion.

Neurogenic stunned myocardium (NSM) is a potentially fatal cause of sudden cardiogenic dysfunction due to an acute neurological event, most commonly aneurysmal subarachnoid hemorrhage in adults. Only two pediatric cases of hydrocephalus-induced NSM have been reported. Here the authors report a third case in a 14-year-old boy who presented with severe headache, decreased level of consciousness, and shock in the context of acute hydrocephalus secondary to fourth ventricular outlet obstruction 3 years after standard-risk medulloblastoma treatment.

Neurofibromatosis Type 1: Description of a Novel Diagnostic Scoring System in Pediatric Optic Nerve Glioma.

Objective: Neurofibromatosis type 1 (NF1) is a multisystemic genetic disease in which patients develop benign tumors including optic nerve gliomas (ONG). Optic nerve thickening and tortuosity are radiologic markers of tumors but can also be present in children with NF1 who do not have gliomas, thus complicating screening and diagnosis. We undertook this study to retrospectively determine quantitative and qualitative diagnostic criteria using MRI of the orbits for ONG in children with NF1.