The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder.

Background: RNU4-2 is a newly identified, noncoding gene responsible for a significant proportion of individuals with neurodevelopmental disorders (NDDs). Diagnosis is hampered by the inability of commonly employed clinical testing methods, including exome sequencing and currently formulated multigene panels, to detect variants in the noncoding region. The relatively high prevalence of this condition, predicted to affect thousands of undiagnosed children with NDDs, makes it even more relevant to have better tools to facilitate diagnosis.

A Case of Tuberculosis-Associated Acute Disseminated Encephalomyelitis in a Seven-Month-Old Infant.

A seven-month-old previously healthy female infant presented with acute onset encephalopathy and left focal weakness in the setting of three months of non-productive cough. She was diagnosed with pulmonary tuberculosis (TB), and neuroimaging showed multifocal non-enhancing T2 hyperintensities in the brain and longitudinal T2 hyperintensity in the spinal cord consistent with acute disseminated encephalomyelitis (ADEM). However, her cerebrospinal fluid (CSF) did not show evidence of TB infection.

Abnormal cochleovestibular anatomy and imaging: Lack of consistency across quality of images, sequences obtained, and official reports.

Objectives: There are significant variations across centers on how to acquire and interpret imaging of children with congenital sensorineural hearing loss and cochleovestibular abnormalities. This study assesses the quality of imaging, sequences included, and accuracy of official radiology reports, to determine if these children are being assessed appropriately.

Methods: This study is retrospective review of CTs and MRIs from 40 pediatric patients diagnosed with profound sensorineural hearing loss and cochleovestibular structure/nerve abnormalities presenting to a tertiary referral academic center.

Evaluation of Fetal First and Second Cervical Vertebrae: Normal or Abnormal?

Objectives: To use 3-dimensional sonographic volumes to evaluate the variable appearance of the normal fetal cervical spine and craniocervical junction, which if unrecognized may lead to misdiagnosis of malalignment at the first and second cervical vertebrae (C1 and C2).

Methods: Three-dimensional sonographic volumes of the fetal cervical spine were obtained from 24 fetuses at gestational ages between 12 weeks 6 days and 35 weeks 1 day. The volumes were reviewed on 4-dimensional software, and the vertebral level was determined by labeling the first rib-bearing vertebra as the first thoracic vertebra.

Glioblastoma multiforme arising from dysembryoplastic neuroepithelial tumor in a child in the absence of therapy.

Dysembryoplastic neuroepithelial tumors (DNETs) are considered as low-grade tumors commonly associated with intractable seizures. We report a case of an unusual hemispheric DNET in a young child presenting with new-onset focal seizures. The tumor was notable for its atypical neuroimaging features and very rapid malignant transformation into a glioblastoma multiforme in the absence of radiation or chemotherapy, 1-year postdiagnosis.

Appropriateness of radiology procedures performed in children with gastrointestinal symptoms and conditions.

Background & Aims: Exposure to ionizing radiation from diagnostic imaging procedures (DIPs) has been associated with an increased risk of cancer in children. In particular, gastrointestinal imaging has been identified as a significant factor that contributes to exposure of children to radiation during diagnostic procedures. We performed a longitudinal assessment of gastrointestinal-associated DIPs to identify practices that might be targeted to reduce exposure of pediatric patients to radiation.

Behavioral effects of congenital ventromedial prefrontal cortex malformation.

Background: A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC) has not been reported previously. Here we describe a 14 year-old boy, B.W.

Pediatric magnetoencephalography and magnetic source imaging.

Magnetoencephalography (MEG) and magnetic source imaging (MSI) together represent a uniquely powerful functional imaging modality because of their capabilities of directly observing the electrophysiologic activity of neurons with exquisite temporal detail and accurately localizing corresponding neuromagnetic field sources onto high-resolution MR images. These features have and should continue to advance our understanding of the complex spatiotemporal basis of normal and abnormal brain function and development in children. By more clearly delineating and characterizing epileptogenic foci and their relation to eloquent cortex, MSI enables earlier and more effective neurosurgery to be performed, thus resulting in improved seizure outcomes.

Recurrent intractable seizures in children with cortical dysplasia adjacent to dysembryoplastic neuroepithelial tumor.

The purpose of this study was to identify the pathologic features that predict postoperative outcome in children with cortical dysplasia adjacent to dysembryoplastic neuroepithelial tumors. We reviewed the records of children with dysembryoplastic neuroepithelial tumor who underwent epilepsy surgery and who had at least 1 year of surgical follow-up. We divided the dysembryoplastic neuroepithelial tumors into three pathology classes (simple, complex, and nonspecific), categorized adjunctive cortical dysplasia into four types, and compared histopathology with seizure outcomes.

Three-dimensionally reconstructed magnetic source imaging and neuronavigation in pediatric epilepsy: technical note.

Objective: To determine the role of reconstructing three-dimensional magnetic source imaging (MSI) data on cortical resections for children undergoing epilepsy surgery using neuronavigation.

Methods: Magnetoencephalographic recordings were analyzed in 16 children under 18 years of age with intractable epilepsy. The data were transferred to the neuronavigation workstation for intraoperative localization of MSI spike sources in selected patients.

Slow-flow spinal epidural AVF with venous ectasias: two pediatric case reports.

We report the clinical and imaging findings in the cases of two children who initially presented with back pain related to epidural AVF in the cervicothoracic spine. Both lesions were of particular interest because of their exclusive epidural and paraspinal venous drainage and the presence of the prominent venous pouches in the epidural space. Angiography revealed that one was multifocal and of relatively slow flow.

Safety and feasibility of a CT protocol for acute stroke: combined CT, CT angiography, and CT perfusion imaging in 53 consecutive patients.

By combining non-contrast-enhanced CT imaging, CT perfusion imaging, and cranial-to-chest CT angiography (CTA), the entire cerebrovascular axis can be imaged during acute stroke. To our knowledge, the safety and feasibility of this technique have not been previously reported. In a consecutive series of 53 patients with suspected acute stroke, renal failure was not observed.

Predictors of 30-month outcome after perinatal depression: role of proton MRS and socioeconomic factors.

The objective was to determine in infants with perinatal depression whether the relative concentrations of N-acetylaspartate and lactate in the neonatal period are associated with (1) neurodevelopmental outcome at 30 mo of age or (2) deterioration in outcome from age 12 to 30 mo; and to determine whether socioeconomic factors are associated with deterioration in outcome. Thirty-seven term neonates were prospectively studied with single-voxel proton magnetic resonance spectroscopy of the basal nuclei and intervascular boundary zones. Thirty-month outcomes were classified as normal [if Mental Development Index of the Bayley Scales of Infant Development (MDI) >85 and neuromotor scores (NMS) <3; n = 15], abnormal [if MDI or=3 at 12 and 30 mo; n = 11], or deteriorated [if normal at 12 mo and abnormal at 30 mo (MDI or=3); n = 11].