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Context Hypothalamic obesity is a rare, treatment-resistant form of obesity. In preliminary studies, the hypothalamic hormone oxytocin (OXT) has shown promise as a potential weight loss therapy. Objective To determine whether 8 weeks of intranasal OXT (vs 8 weeks of placebo) promotes weight loss in children, adolescents, and young adults with hypothalamic obesity. Methods This randomized, double-blind, placebo-controlled, crossover pilot trial (NCT02849743), conducted at an outpatient academic medical center, included patients aged 10 to 35 years with hypothalamic obesity from hypothalamic/pituitary tumors. Participants received intranasal OXT (Syntocinon, 40 USP units/mL, 4 IU/spray) vs excipient-matched placebo, 16 to 24 IU 3 times daily at mealtimes. Weight loss attributable to OXT vs placebo and safety (adverse events) were assessed. Results Of 13 individuals randomized (54% female, 31% pre-pubertal, median age 15.3 years, IQR 13.3-20.6), 10 completed the entire study. We observed a nonsignificant within-subject weight change of −0.6 kg (95% CI: −2.7, 1.5) attributable to OXT vs placebo. A subset (2/18 screened, 5/13 randomized) had prolonged QTc interval on electrocardiography prior to screening and/or in both treatment conditions. Overall, OXT was well-tolerated, and adverse events (epistaxis and nasal irritation, headache, nausea/vomiting, and changes in heart rate, blood pressure, and QTc interval) were similar between OXT and placebo. In exploratory analyses, benefits of OXT for anxiety and impulsivity were observed. Conclusion In this pilot study in hypothalamic obesity, we did not detect a significant impact of intranasal OXT on body weight. OXT was well-tolerated, so future larger studies could examine different dosing, combination therapies, and potential psychosocial benefits.

BACKGROUND AND PURPOSE: Pathogenic variants in the ACTA2 gene cause a distinctive arterial phenotype that has recently been described to be associated with brain malformation. Our objective was to further characterize gyral abnormalities in patients with ACTA2 pathogenic variants as per the 2020 consensus recommendations for the definition and classification of malformations of cortical development. MATERIALS AND METHODS: We performed a retrospective, multicentric review of patients with proved ACTA2 pathogenic variants, searching for the presence of malformations of cortical development. A consensus read was performed for all patients, and the type and location of cortical malformation were noted in each. The presence of the typical ACTA2 arterial phenotype as well as demographic and relevant clinical data was obtained. RESULTS: We included 13 patients with ACTA2 pathogenic variants (Arg179His mutation, n = 11, and Arg179Cys mutation, n = 2). Ninety-two percent (12/13) of patients had peri-Sylvian dysgyria, 77% (10/13) had frontal dysgyria, and 15% (2/13) had generalized dysgyria. The peri-Sylvian location was involved in all patients with dysgyria (12/12). All patients with dysgyria had a characteristic arterial phenotype described in ACTA2 pathogenic variants. One patient did not have dysgyria or the characteristic arterial phenotype. CONCLUSIONS: Dysgyria is common in patients with ACTA2 pathogenic variants, with a peri-Sylvian and frontal predominance, and was seen in all our patients who also had the typical ACTA2 arterial phenotype.

Untreated congenital toxoplasmosis remains an important cause of neurologic and ocular disease worldwide. However, congenitally infected infants may not have signs and symptoms their physicians recognize, leading to delayed diagnosis and missed opportunities for treatment. We describe a pair of twins diagnosed with congenital toxoplasmosis at 11 months of age following incidental detection of leukocoria in one twin.

The interpretation of cerebral venous pathologies in paediatric practice is challenging as there are several normal anatomical variants, and the pathologies are diverse, involving the venous system through direct and indirect mechanisms. This paper aims to provide a comprehensive review of these entities, as their awareness can avoid potential diagnostic pitfalls. We also propose a practical classification system of paediatric cerebral venous pathologies, which will enable more accurate reporting of the neuroimaging findings, as relevant to the underlying pathogenesis of these conditions. The proposed classification system comprises of the following main groups: arterio-venous shunting-related disorders, primary venous malformations and veno-occlusive disorders. A multimodal imaging approach has been included in the relevant subsections, with a brief overview of the modality-specific pitfalls that can also limit interpretation of the neuroimaging. The article also summarises the current literature and international practices in terms of management options and outcomes in specific disease entities.

Rationale and Objectives To describe and analyze the pediatric neuroradiology implicit curriculum for general-pediatric and neuro-pediatric radiology fellowship training in order to define specific trainee needs and inform an explicit pediatric neuroradiology curriculum. Materials and Methods A focus group of pediatric radiologists, pediatric neuroradiologists and fellows was conducted to create a needs assessment questionnaire that focused on training experience, current job, and a list of essential competency items. The questionnaire was distributed to 175 members of the Society for Pediatric Radiology. Data were derived from categorical and continuous survey variables. Using an inductive approach, we analyzed and systematically inspected the data to derive themes regarding trainee needs and how they might inform an explicit curriculum. Results Fifty-seven pediatric radiologists (response rate of 33%) responded to the survey. Sixty-three percent of respondents were fellowship trained in general pediatric radiology, 21% in pediatric neuroradiology, and 16% in both. In their current jobs, 75% of respondents were responsible for interpreting some pediatric neuroradiology. 50% or greater reported limited or no fellowship instruction in five areas of imaging interpretation: fetal neuroimaging; ear and/or nose and/or throat imaging; head and neck imaging; neuroembryology; neuro-spectroscopy and four areas of technical skills and/or image quality: reducing imaging time; choice of contrast agents; sedation; understanding clinical management pathways. Conclusion Trainees endorse inadequate training in certain aspects of imaging interpretation and technical skills which are known to remain a significant and vital aspect of pediatric neuroradiology practice, revealing an opportunity to emphasize these aspects in an explicit curriculum and dedicate educational resources towards this cause.

Temporal bone high-resolution computed tomography (HRCT) and magnetic resonance (MR) imaging are valuable tools in the evaluation of pediatric hearing loss. Computed tomography is important in the evaluation of pediatric conductive hearing loss and is the imaging modality of choice for evaluation of osseous abnormalities. MR imaging is the modality of choice for evaluation of sensorineural hearing loss. A broad spectrum of imaging findings can be seen with hearing loss in children. HRCT and MR imaging provide complementary information and are often used in conjunction in the preoperative evaluation of pediatric candidates for cochlear implantation.

Brain tumors can develop in the prenatal and neonatal time periods. Neuroimaging studies are crucial for the early detection of prenatal and neonatal brain tumors. Imaging allows for characterization of morphology, as well as the detection of hydrocephalus, local invasion, and distant spread. The imaging features of the more common neonatal brain tumors, including teratomas, choroid plexus tumors, ATRTs, and neoplasm mimics are described.

Benign orbital lesions comprise a wide spectrum of pathologies that greatly differ in their nature, originating from different orbital tissues. In this review paper, we describe the most commonly encountered orbital diseases in children, such as congenital, inflammatory, and infectious disorders. We also describe a variety of vascular lesions, including benign neoplasms, and malformations as well as other various benign neoplastic soft tissue and osseous lesions. We focus on the appropriate choice of imaging modalities for each entity.

Head CT after out-of-hospital cardiac arrest is often obtained to evaluate intracranial pathology. Among children admitted to the PICU following pediatric out-of-hospital cardiac arrest, we hypothesized that loss of gray-white matter differentiation and basilar cistern and sulcal effacement are associated with mortality and unfavorable neurologic outcome.Retrospective, cohort study.Single, tertiary-care center PICU.Seventy-eight patients less than 18 years old who survived out-of-hospital cardiac arrest to PICU admission and had a head CT within 24 hours of return of spontaneous circulation were evaluated from July 2005 through May 2012.None.Median time to head CT from return of spontaneous circulation was 3.3 hours (1.0, 6.0). Median patient age was 2.3 years (0.4, 9.5). Thirty-nine patients (50%) survived, of whom 29 (74%) had favorable neurologic outcome. Nonsurvivors were more likely than survivors to have 1) loss of gray-white matter differentiation (Hounsfield unit ratios, 0.96 [0.88, 1.07] vs 1.1 [1.07, 1.2]; p0.001), 2) basilar cistern effacement (93% vs 7%; p = 0.001; positive predictive value, 94%; negative predictive value, 59%), and 3) sulcal effacement (100% vs 0%; p ≤ 0.001; positive predictive value, 100%; negative predictive value, 68%). All patients with poor gray-white matter differentiation or sulcal effacement had unfavorable neurologic outcomes. Only one patient with basilar cistern effacement had favorable outcome.Loss of gray-white matter differentiation and basilar cistern effacement and sulcal effacement are associated with poor outcome after pediatric out-of-hospital cardiac arrest. Select patients may have favorable outcomes despite these findings.

Keywords: autosomal recessive primary microcephaly (MCPH); CDK5RAP2; microcephaly; developmental delay; speech delay; failure to thrive

Background/purpose Blunt cerebrovascular injury (BCVI) is clinically challenging because these injuries are hard to detect and can have serious neurological consequences, and optimal screening criteria have not been established for children. This study aims to determine risk factors for BCVI in pediatric patients and to evaluate screening practices in a single institutional series. Methods A retrospective review of all pediatric blunt trauma patients evaluated over a 10-year period was performed. Demographic, clinical, and radiographic data were reviewed, including the presence of adult risk factors for BCVI. Logistic regression analyses were performed with statistical significance established at p Results Of the 11,596 patients evaluated during the study period, 1018 (8.8%) had at least one adult risk factor for BCVI, but only 62 (6.1% of those with risk factors) underwent angiographic evaluation. Overall, 11 BCVIs were observed, resulting in an incidence of 0.095%. All 11 patients with BCVI had at least one risk factor. Multivariate logistic regression analysis identified cervical spine fracture (OR 36.88 [8.36, 169.95]), GCS score ≤ 8 (OR 16.42 [2.16, 102.33]), male gender (OR 10.52 [1.33, 363.30]), Le Fort II or III facial fracture (OR 63.71 [2.16, 1124.68]), and ISS (unit OR 1.10 [1.04, 1.17]) as independent risk factors for BCVI. Conclusion Adult screening criteria for BCVI appear appropriate for pediatric patients, but most at-risk children are not being screened. Level of evidence Level III (retrospective case-control study).

The following chapter is divided into two sections that represent the division of malignant disorders into liquid and solid tumors. Much as neuro-oncology has become a subspecialty, many pediatric oncologists are specializing in their area of interest to focus on the diagnosis and management of either hematologic (liquid) disorders or solid tumors.

SUMMARY: Fluid-fluid levels can occur whenever different fluid densities are contained within a cystic or compartmentalized lesion, usually related to the evolution of hematoma or necrosis. Review of the literature demonstrated that throughout the skeletal system, the most common etiology for fluid-fluid levels is aneurysmal bone cyst, but there are no dedicated studies of the pediatric calvaria, to our knowledge. In this report, we present clinicopathologic characteristics and CT and MR imaging of 11 patients with pediatric skull mass lesions demonstrating fluid-fluid levels. MR imaging demonstrated more fluid-fluid levels compared with CT in all cases. The etiologies of skull lesions with fluid-fluid levels were Langerhans cell histiocytosis in 4 (36.6%), aneurysmal bone cysts in 3 (27.2%), cephalohematoma in 3 (27.2%), and metastatic neuroblastoma in 1 (9%). Radiologists should be aware of the other etiologies of calvarial lesions with fluid-fluid levels in the pediatric skull. ABC : aneurysmal bone cyst FFL : fluid-fluid level LCH : Langerhans cell histiocytosis

Abnormalities of the fetal head and neck may be seen in isolation or in association with central nervous system abnormalities, chromosomal abnormalities, and syndromes. Magnetic resonance imaging (MRI) plays an important role in detecting associated abnormalities of the brain as well as in evaluating for airway obstruction that may impact prenatal management and delivery planning. This article provides an overview of the common indications for MRI of the fetal head and neck, including abnormalities of the fetal skull and face, masses of the face and neck, and fetal goiter.

Evaluation of neck lesions in the pediatric population can be a diagnostic challenge, for which magnetic resonance (MR) imaging is extremely valuable. This article provides an overview of the value and utility of MR imaging in the evaluation of pediatric neck lesions, addressing what the referring clinician requires from the radiologist. Concise descriptions and illustrations of MR imaging findings of commonly encountered pathologic entities in the pediatric neck, including abnormalities of the branchial apparatus, thyroglossal duct anomalies, and neoplastic processes, are given. An approach to establishing a differential diagnosis is provided, and critical points of information are summarized.

Our objective was to describe the types of providers who refer children with autism spectrum disorder (ASD) for brain magnetic resonance imaging (MRI), the referral reason, and MRI results. The most common referral reasons were autism spectrum disorder with seizures (33.7%), autism spectrum disorder alone (26.3%), and autism spectrum disorder with abnormal neurologic examination or preexisting finding (24%). Neurology (62.5%), general pediatric (22.3%), and developmental/behavioral practitioners (8.9%) referred the most patients. The prevalence of definite pathology was highest in children referred for autism spectrum disorder with abnormal neurologic examination/preexisting finding (26.2%, 95% CI: 16.8%-36%), headaches (25.7%, 95% CI: 11.2%-40.2%), or seizures (22%, 95% CI: 14.6%-29.5%), and was lowest in children referred for autism spectrum disorder alone (6.5%, 95% CI: 1.5%-11.6%). We concluded that there is a low prevalence of definite pathology in children with autism spectrum disorder undergoing brain MRI. In children with abnormal neurologic examination or preexisting finding, seizures, or headaches, one may consider performing brain MRI given the higher prevalence of pathology.

The primary imaging modality for routine examination of the fetal nervous system, including the spine and the fetal extremities, is ultrasonography (US). Magnetic resonance (MR) imaging with its multi-plantar imaging capability and high inherent signal to noise ratio is highly accurate in demonstrating the morphological changes of the developing fetal spine and extremities. Fetal MRI is a valuable adjunct to US and has the advantage of better depiction of associated CNS and non-CNS anomalies. Fetal MRI can provide information which can better assess postnatal outcome, especially neurological function, and quality of life and thus help the maternal-fetal medicine specialist and the parents to determine choices for management.

"Shaken baby syndrome" is a term often used by the physicians and public to describe abusive trauma inflicted on infants and young children. Advances in the understanding of the mechanisms and the associated clinical spectrum of injury has lead us to modify our terminology and address it as "abusive trauma" (AT). Pediatric abusive head trauma is defined as an injury to the skull or intracranial contents of an infant or a young child (< 5 y age) due to inflicted blunt impact and/or violent shaking. This chapter focuses on the imaging aspects of childhood abusive trauma along with a brief description of the mechanism and pathophysiology of abusive injury. The diagnosis of AT is not always obvious, and abusive injuries in many infants may remain unrecognized. Pediatricians should be cognizant of AT since pediatricians play a crucial role in the diagnosis, management and prevention of AT.

Acquired white matter abnormalities in children may be due to a broad spectrum of disorders, with the most significant related to metabolic and toxic etiologies. Recognition of the imaging appearance of neonatal hypoglycemia, nonketotic hyperglycemia, hyperammonemia, hepatic encephalopathy, and central pontine myelinolysis (CPM) is essential because prompt correction of the underlying metabolic abnormality may limit and, in some cases, reverse the cerebral damage. Toxic leukoencephalopathies encompass disorders caused by iatrogenic administration of pharmacologic agents and radiation therapy, poisoning by household substances, and recreational drug use. Although medication-induced leukoencephalopathies often show a propensity for reversibility of clinical and radiologic findings upon discontinuation of the offending substance, recreational drugs may cause white matter toxicity that often portends a poorer prognosis. Our discussion focuses on the clinical aspects, pathophysiological mechanisms, and imaging features of commonly encountered acquired metabolic and toxic leukoencephalopathies in the pediatric population.

Although ultrasound remains the screening modality of choice in evaluation of the fetal nervous system, magnetic resonance imaging with its multiplanar imaging ability and high signal-to-noise ratio is highly accurate in illustrating the morphologic changes of the developing brain and fetal brain abnormalities. Fetal magnetic resonance imaging is an established powerful tool for obtaining additional information in evaluation of anomalies of the fetal face, neck, and spine. It is helpful to patients and their health care professionals in making vital management decisions and aids in genetic counseling for future pregnancies.

Understanding embryologic development of the cerebellum and the 4th ventricle is essential for understanding posterior fossa malformations. Posterior fossa malformations can be conveniently classified into those that have a large posterior fossa and those with normal or small posterior fossa. Disorders associated with a large posterior fossa include classic Dandy–Walker malformation, Blake's pouch cyst, mega cisterna magna, and posterior fossa arachnoid cyst. Disorders associated with normal or small posterior fossa include Dandy–Walker variant, Joubert syndrome, tecto-cerebellar dysraphia, rhombencephalosynapsis, the neocerebellar hypoplasias, and cerebellar atrophy. Neuro-imaging features should enable the imager to provide the referring physician a logical approach to these complex posterior fossa malformations.

The imaging evaluation of malignancies is directed towards the assessment of size, location and characterization of the neoplasm. Imaging children necessitates additional attention to the dose of radiation, given the radiosensitivity and the expected longevity of children. This chapter will present some of the latest technologies used to image pediatric malignancies, as well as methods to evaluate the most common pediatric neoplasms.

10073 Background: Allogeneic hematopoietic stem-cell transplantation (alloHSCT) survivors treated with total body irradiation (TBI) exhibit bone deficits and excess adiposity, potentially related t...