Management of fetal head and neck masses: Evaluation of prenatal factors associated with airway obstruction and decision for definitive airway and ex-utero intrapartum treatment at birth.

Objective: Fetal head and neck masses can result in critical airway obstruction. Our study aimed to evaluate prenatal factors associated with the decision for a definitive airway, including ex-utero intrapartum treatment (EXIT), at birth among at-risk fetuses.

Methods: A single-institution retrospective review evaluated all fetal head and neck masses prenatally diagnosed from 2005 to 2023.

Approach to New-Onset Psychosis in Pediatrics: A Review of Current Practice and an Interdisciplinary Consensus-Driven Clinical Pathway at a Single-Center Institution.

New-onset psychosis in the pediatric population poses many diagnostic challenges. Given the diversity of underlying causes, which fall under the purview of multiple medical specialties, a timely, targeted, yet thorough workup requires a systematic and coordinated approach. A committee of expert pediatric physicians from the divisions of emergency medicine, psychiatry, neurology, hospitalist medicine, and radiology convened to create and implement a novel clinical pathway and approach to the pediatric patient presenting with new-onset psychosis.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesis, are associated with intellectual disability, but the pathogenic mechanism remains obscure. Here, we characterize 31 individuals with de novo missense variants in CERT1.

ID-Seg: an infant deep learning-based segmentation framework to improve limbic structure estimates.

Infant brain magnetic resonance imaging (MRI) is a promising approach for studying early neurodevelopment. However, segmenting small regions such as limbic structures is challenging due to their low inter-regional contrast and high curvature. MRI studies of the adult brain have successfully applied deep learning techniques to segment limbic structures, and similar deep learning models are being leveraged for infant studies.

Understanding Bilateral Skull Fractures in Infancy: A Retrospective Multicenter Case Review.

Background: Bilateral skull fractures in infancy often raise suspicion for abuse. Nevertheless, literature suggests that they may occur accidentally. However, empiric data are lacking.

Convolutional neural network-aided tuber segmentation in tuberous sclerosis complex patients correlates with electroencephalogram.

Objective: One of the clinical hallmarks of tuberous sclerosis complex (TSC) is radiologically identified cortical tubers, which are present in most patients. Intractable epilepsy may require surgery, often involving invasive diagnostic procedures such as intracranial electroencephalography (EEG). Identifying the location of the dominant tuber responsible for generating epileptic activities is a critical issue.

Detailed Clinical and Psychological Phenotype of the X-linked -Related Neurodevelopmental Disorder.

Objective: To expand the clinical phenotype of the X-linked -related neurodevelopmental disorder in 33 individuals.

Methods: Participants were diagnosed with pathogenic or likely pathogenic variants in using American College of Medical Genetics and Genomics/Association of Molecular Pathology criteria, largely identified via clinical exome sequencing. Genetic reports were reviewed.

Extracardiac imaging findings in COVID-19-associated multisystem inflammatory syndrome in children.

Background: Coronavirus disease 2019 (COVID-19)-associated multisystem inflammatory syndrome in children (MIS-C) is an emerging syndrome that presents with a Kawasaki-like disease and multiorgan damage in children previously exposed to COVID-19.

Objective: To review the extracardiac radiologic findings of MIS-C in a group of children and young adults with a confirmed diagnosis of MIS-C.

Materials And Methods: In a retrospective study from April 1, 2020, to July 31, 2020, we reviewed the imaging studies of 47 children and adolescents diagnosed with MIS-C, 25 females (53%) and 22 males (47%), with an average age of 8.