The Pediatric Neuroradiologist's Practical Guide to Capture and Evaluate Pre- and Postoperative Velopharyngeal Insufficiency.

Up to 30% of children with cleft palate will develop a severe speech disorder known as velopharyngeal insufficiency. Management of velopharyngeal insufficiency typically involves structural and functional assessment of the velum and pharynx by endoscopy and/or videofluoroscopy. These methods cannot provide direct evaluation of underlying velopharyngeal musculature.

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.

Highly conserved transport protein particle (TRAPP) complexes regulate subcellular trafficking pathways. Accurate protein trafficking has been increasingly recognized to be critically important for normal development, particularly in the nervous system. Variants in most TRAPP complex subunits have been found to lead to neurodevelopmental disorders with diverse but overlapping phenotypes.

Prenatal diagnosis of Poland-Möbius syndrome by multimodality fetal imaging.

We describe prenatal diagnosis of Poland-Möbius syndrome using a combination of ultrasound and MRI. Poland syndrome was diagnosed based on absence of the pectoralis muscles associated with dextroposition of the fetal heart and elevation of the left diaphragm. Associated brain anomalies that led to the diagnosis of Poland-Möbius syndrome, included ventriculomegaly, hypoplastic cerebellum, tectal beaking, and a peculiar flattening of the posterior aspect of the pons and medulla oblongata, which has been reported by postnatal diffusion tensor imaging studies as a reliable neuroimaging marker for Möbius syndrome.

A transposase-derived gene required for human brain development.

DNA transposable elements and transposase-derived genes are present in most living organisms, including vertebrates, but their function is largely unknown. PiggyBac Transposable Element Derived 5 (PGBD5) is an evolutionarily conserved vertebrate DNA transposase-derived gene with retained nuclease activity in human cells. Vertebrate brain development is known to be associated with prominent neuronal cell death and DNA breaks, but their causes and functions are not well understood.

Intrauterine and Perinatal Infections.

Imaging plays an important role in evaluating patients with suspected intrauterine and perinatal infections. Advances in fetal imaging including both ultrasound and MRI allow for increasingly more specific diagnosis if the radiologist is familiar with specific imaging features and patterns. Early imaging of neonates with suspected central nervous system infection is valuable to enable prompt treatment and differentiate infection from other conditions which can clinically present similarly.

Evaluation of axial gradient Echo spiral MRI of the spine at 1.5 T.

Axial gradient echo T2*-weighed MRI of the spine is a valuable diagnostic tool with several advantages over axial T2-weighted TSE MRI, but it suffers from a low signal-to-noise ratio (SNR) and inconsistent image quality. This work investigates the potential of spiral MRI to reduce artifacts and produce improved SNR and image quality in axial T2*-weighted gradient echo MRI of the spine of pediatric patients. For the purposes of image quality evaluation, 15 pediatric patients were recruited among those scheduled for a routine spine or brain exam at 1.

Contribution of fetal magnetic resonance imaging in fetuses with congenital heart disease.

Background: Increasing evidence supports an association among congenital heart disease (CHD), structural brain lesions on neuroimaging, and increased risk of neurodevelopmental delay and other structural anomalies. Fetal MRI has been found to be effective in demonstrating fetal structural and developmental abnormalities.

Objective: To determine the contribution of fetal MRI to identifying cardiovascular and non-cardiovascular anomalies in fetuses with CHD compared to prenatal US and fetal echocardiography.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelated) families. In addition, 25/47 affected individuals (53%) presented with microcephaly, developmental delay/intellectual disability, cerebral palsy, and/or epilepsy.

Mutation in Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability.

Objective: To determine whether mutations reported for can cause mixed neurodevelopmental disorders, we performed both functional studies on variant pathogenicity and ZDHHC15 function in animal models.

Methods: We examined protein function of 4 identified variants in ZDHHC15 in a yeast complementation assay and locomotor defects of loss-of-function genotypes in a model.

Results: Although we assessed multiple patient variants, only 1 (p.

Anti-NMDA receptor encephalitis and brain atrophy in children and adults: A quantitative study.

Purpose: To determine whether brain atrophy was present in patients with anti-N-methyl-d-aspartate receptor encephalitis (anti-NMDARE) using qualitative and quantitative analyses of brain magnetic resonance imaging (MRI) and to explore clinical differences in patients with anti-NMDARE with or without brain atrophy.

Methods: A retrospective observational study encompassing the serologic, cerebrospinal fluid, and brain MRI data of 23 patients with anti-NMDARE was conducted. Median patient age was 14 years (interquartile range [IQR], 12 years).

Data Quality Assessment for Super-Resolution Fetal Brain MR Imaging: A Retrospective 1.5 T Study.

Background: Super-resolution is a promising technique to create isotropic image volumes from stacks of two-dimensional (2D) motion-corrupted images in fetal magnetic resonance imaging (MRI).

Purpose: To determine an acquisition quality metric and correlate that metric with radiologist perception of three-dimensional (3D) image quality.

Study Type: Retrospective.

Opsoclonus-myoclonus-ataxia syndrome in children.

Opsoclonus-myoclonus-ataxia syndrome is a rare neuroimmunologic disorder typically presenting in previously healthy infants and toddlers. It is characterized by a clinical triad of (1) erratic saccadic intrusions; (2) myoclonus and/or ataxia; (3) behavioral features, typified by developmental plateauing, irritability and insomnia. About half of cases are associated with an underlying neuroblastoma and diagnostic imaging is essential once OMAS is suspected.

Prenatal diagnosis of bilateral retinoblastomas by multimodality fetal imaging: case report and review of the literature.

Retinoblastoma is the prototypic genetic tumor. Caused by mutations in the RB1 gene, retinoblastomas are heritable in 40% of the cases and, in such cases, tumors are bilateral in 80%, unilateral in 15%, and trilateral in 5% of the cases. Trilateral retinoblastoma is a term that describes bilateral retinoblastomas plus a midline suprasellar or pineal neuroectodermal tumor.

Saliva is a reliable and accessible source for the detection of SARS-CoV-2.

Objectives: The aim of this study was to investigate the feasibility of saliva sampling as a non-invasive and safer tool to detect severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and to compare its reproducibility and sensitivity with nasopharyngeal swab samples (NPS). The use of sample pools was also investigated.

Methods: A total of 2107 paired samples were collected from asymptomatic healthcare and office workers in Mexico City.

Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene.

A singleton fetus was referred to fetal magnetic resonance imaging (MRI) at 25 weeks due to mild ventriculomegaly and an abnormal fetal echocardiogram showing cardiomegaly, right ventricular hypertrophy and tricuspid insufficiency. Patchy areas of ischemic infarction, extensive subacute and chronic hemorrhage not respecting vascular territories, encephaloclastic cysts and closed lip schizencephaly were identified. Cataract was detected postnatally.

Neuroimaging findings associated with the fetal inflammatory response syndrome.

The fetal inflammatory response syndrome (FIRS) is a condition whereby the fetus mounts an inflammatory response to intrauterine infection/inflammation. Clinical consequences include preterm premature rupture of membranes (PPROM), spontaneous preterm delivery, neonatal sepsis, bronchopulmonary dysplasia, and brain and other organ injury. Mechanisms leading to brain injury in FIRS have been investigated in animal and human studies.

Neonatal Neuroimaging.

Significant advances in the field of neonatal imaging has resulted in the generation of large complex data sets of relevant information for routine daily clinical practice, and basic and translational research. The evaluation of this data is a complex task for the neonatal imager who must distinguish normal and incidental findings from clinically significant abnormalities which are often adjunctive data points applicable to clinical evaluation and treatment. This review provides an overview of the imaging manifestations of disease processes commonly encountered in the neonatal brain.

Third ventricle choroid plexus papilloma: 2 cases.

The third ventricle is an uncommon location for choroid plexus papillomas. In adults, these tumors most commonly occur in the fourth ventricle. In children, they are more commonly found in the lateral ventricles.

MRI depiction of fetal brain abnormalities.

Intracranial abnormalities are commonly suspected findings on antenatal ultrasound that require evaluation by magnetic resonance imaging. This review depicts multiple abnormalities imaged as a means to guide clinicians in proper diagnosis.

Cutaneous metastases of infantile choriocarcinoma can mimic infantile hemangioma both clinically and radiographically.

Infantile metastatic choriocarcinoma is a rare tumor of placental origin that can be observed with or without maternal metastases. A single cutaneous mass may be the only clinically observed sign. Reports of imaging findings are scarce given the extreme rarity of the tumor, and the disease can be rapidly fatal in the absence of prompt diagnosis.