Workup Of Children Research Articles

Validation of red flags in the workup of children with long-term abdominal pain - A retrospective study.

To evaluate red flags as an instrument to distinguish other medical conditions from Functional Gastrointestinal Disorders (FGID) in children with long-term abdominal pain. In a retrospective follow-up, data were collected from 317 children who were referred for medical assessment due to long-term abdominal pain between the years 2011 and 2012 at three Swedish paediatric open clinic units in Sweden. Throughout the review of medical records, any documented red flags at the primary consultation and finally set diagnosis after 1 year were noted for all cases. A non-FGID disease was diagnosed in 32 cases (10.1%). The sensitivity of red flags to predict inflammatory bowel disease (IBD) was 100% and the specificity 64.1%. The sensitivity of red flags to predict celiac disease was 45.5% and the specificity 63.7%. The sensitivity of red flags to predict any non-FGID disease was 59.4%, and the specificity was 65.6%. The use of red flags is a sensitive instrument to identify patients with IBD but less applicable when identifying celiac disease and other organic diseases. Specificity is generally low and future biomarkers for assessing children with long-term abdominal pain is needed.

Isolated Renal Manifestations as Presenting Features of Acute Leukemia: A Case Report with Review of Literature

Abstract Background: Although renal complications are well-known in hematological malignancies, they occur mostly after initiation of steroids and chemotherapy. We describe an unusual scenario of isolated renal complications as a presenting feature in children with acute lymphoblastic leukemia (ALL). Clinical Description: A 2-year-old girl presented with abdominal distension due to bilateral palpable renal masses associated with stage 2 hypertension. Investigations revealed ALL and impaired renal functions with enlarged kidneys on ultrasound, with no involvement of any other organ or lymph node. Management and Outcome: She required three antihypertensives for normalizing her blood pressure (BP). After initiation of chemotherapy, BP improved, kidney sizes reduced, and acute kidney injury resolved. Conclusion: Renal functions, BP and imaging for kidney sizes should not be missed in the initial work-up in children with ALL.

European Society of Pediatric Radiology survey of perioperative imaging in pediatric liver transplantation: (1) pre-transplant evaluation

BackgroundLiver transplantation is the state-of-the-art curative treatment in end-stage liver disease. Imaging is a key element for successful organ-transplantation to assist surgical planning. So far, only limited data regarding the best radiological approach to prepare children for liver transplantation is available.ObjectivesIn an attempt to harmonize imaging surrounding pediatric liver transplantation, the European Society of Pediatric Radiology (ESPR) Abdominal Taskforce initiated a survey addressing the current status of imaging including the pre-, intra-, and postoperative phase. This paper reports the responses on preoperative imaging.Material and methodsAn online survey, initiated in 2021, asked European centers performing pediatric liver transplantation 48 questions about their imaging approach. In total, 26 centers were contacted and 22 institutions from 11 countries returned the survey. From 2018 to 2020, the participating centers collectively conducted 1,524 transplantations, with a median of 20 transplantations per center per annum (range, 8–60).ResultsMost sites (64%) consider ultrasound their preferred modality to define anatomy and to plan surgery in children before liver transplantation, and additional cross-sectional imaging is only used to answer specific questions (computed tomography [CT], 90.9%; magnetic resonance imaging [MRI], 54.5%). One-third of centers (31.8%) rely primarily on CT for pre-transplant evaluation. Imaging protocols differed substantially regarding applied CT scan ranges, number of contrast phases (range 1–4 phases), and applied MRI techniques.ConclusionDiagnostic imaging is generally used in the work-up of children before liver transplantation. Substantial differences were noted regarding choice of modalities and protocols. We have identified starting points for future optimization and harmonization of the imaging approach to multicenter studies.

Magnetic Resonance Imaging Findings and Genetic Testing Results in Children With Congenital Corneal Opacities

This study investigates brain and globe abnormalities identified on magnetic resonance imaging (MRI) in children with congenital corneal opacities (CCO). Retrospective cohort study. Clinical notes, radiology records, and genetic testing results were reviewed for patients diagnosed with corneal opacification within the first 6 months of life at a tertiary referral academic center between August 2008 and January 2018. Ocular findings, systemic anomalies, neuroimaging, and genetic testing results were summarized. A total of 135 patients presenting at age 1 day to 12 years (mean age, 1 year) were identified. Children with bilateral CCO were more likely to have systemic disease (P = 0.018). Of the entire cohort, 43 (31.8%) patients received MRI, of whom 27 (62.8%) had abnormal brain findings and 30 (69.7%) had abnormal orbital findings. The most common abnormal brain findings were ventriculomegaly (n = 16, 59.2%) and corpus callosum abnormalities (n = 10, 37.0%) followed by brainstem/pons anomalies (n = 5, 18.5%), and cerebellar anomalies (n = 2, 7.4%). Abnormal brain MRI findings were associated with the presence of neurologic (P = .003) and craniofacial (P = .034) disease. A total of 44 (32.1%) patients underwent genetic testing, of whom 29 (65.9%) had pathogenic results. More than 60% of the children with CCO who underwent MRI had abnormal brain and orbit findings that were correlated with significant neurologic disease. Furthermore, almost two-thirds of patients with CCO who underwent genetic testing had pathogenic results. These data demonstrate the value of systemic workup in children with CCO, and highlight the role of ophthalmologists in facilitating the diagnosis of systemic comorbidities associated with CCO.

Optimizing Imaging of Pediatric Liver Lesions: Guidelines from the Pediatric LI-RADS Working Group.

A differential diagnosis based on a patient's age, clinical presentation, and serum α-fetoprotein level will help guide the initial imaging workup in children with a liver lesion. Children vary significantly in size, the ability to stay still, and the ability to breath hold for imaging examinations. Choosing and tailoring imaging techniques and protocols for each indication and age group is important for optimal care with minimal invasiveness. The need for sedation or anesthesia can be obviated by using techniques like feed and bundle, distraction, contrast-enhanced US, and motion-insensitive sequences for MRI. US is often the first imaging modality used in children with a suspected abdominal mass. Once a hepatic lesion is confirmed, multiphasic contrast-enhanced MRI is recommended for most lesions as the next imaging modality allowing full characterization of the lesion and assessment of the liver parenchyma. Contrast-enhanced CT can also be performed for assessment of pediatric focal liver lesions, especially in patients who have a contraindication to MRI. Contrast-enhanced US has shown promise to decrease the need for MRI or CT in some lesions such as hemangioma and focal nodular hyperplasia. Children with a history of malignancy can develop multiple types of hepatic lesions at various stages, including infections during an immunocompromised state, manifesting as focal liver lesions. Based on available limited data in the literature and the collective experiences of the Liver Imaging and Reporting Data System Pediatric Working Group, the authors provide guidelines for the imaging workup of pediatric focal liver lesions with an indication- and age-based approach and discuss the selection and performance of various imaging techniques and modalities. ©RSNA, 2022 See the invited commentary by Chojniak and Boaventura in this issue.

Increasing utilization of the TWIST score in workup of patients with acute scrotal pain: Role in diagnosis and risk stratification

The TWIST score is a 5-component physical examination score used to aid in diagnosis of testicular torsion (TT) and could lessen need for radiologic testing in certain clinical scenarios. TWIST use was not previously widespread at our institution. The primary objective of this quality improvement study was to achieve 100% compliance in TWIST utilization among urology and ED residents and to assess for score concordance between ED and urology assessments. Secondary goals were correlation of TWIST components with need for orchiectomy. ED staff were educated about the TWIST score and asked to complete assessment for patients presenting with acute scrotal pain. Simultaneously, an electronic medical record-based dot phrase was introduced for urology trainees to complete an independent TWIST evaluation. Spearman correlation was performed to assess association between ED and Urology TWIST scores. Multivariable logistic regression was performed to assess association of TWIST score components and need for orchiectomy. 103 patients presented to the ED from 3/2018-11/2020 with a complaint of acute scrotal pain; 47 were diagnosed with torsion. As compared to our retrospective cohort, the documentation rate of complete TWIST score components on exam rose from 9% to 98% (P<0.001) on ED evaluation and 16%-66% on urology evaluation (P<0.001). Rates of repeat ultrasound for patient's transferred between facilities was similar (58% vs. 63%; p=0.66) as was median time to OR (160min vs. 145min; p=0.5). Using TWIST cutoff of >5 yielded a specificity of 94.5% for diagnosis of torsion, with corresponding strong correlation between ED and urology scores (rho=0.71). A firm testicle was noted on urology evaluation in 100% of orchiectomy patients (vs. 61% of salvage patients) with persistent association after controlling for duration of symptoms (OR 28.1; P=0.016). Through two-pronged quality improvement efforts, we significantly improved utilization of the TWIST score by ED and urology staff for workup of patients with acute testicular pain. We confirmed the high sensitivity and specificity of the TWIST score and demonstrated inter-rater reliability between ED and urology assessments. On prospective analysis, testicular firmness on exam was predictive of need for orchiectomy. The TWIST score is an accurate diagnostic tool for both ED and urology providers in workup of children with acute scrotal pain, with a normal score essentially ruling out the condition. Future work should aim at minimizing unnecessary testing in patients demonstrated to be at high risk for torsion.

Improving protocols for whole-body magnetic resonance imaging: oncological and inflammatory applications.

Whole-body MRI is increasingly used in the evaluation of a range of oncological and non-oncological diseases in infants, children and adolescents. Technical innovation in MRI scanners, coils and sequences have enabled whole-body MRI to be performed more rapidly, offering large field-of-view imaging suitable for multifocal and multisystem disease processes in a clinically useful timeframe. Together with a lack of ionizing radiation, this makes whole-body MRI especially attractive in the pediatric population. Indications include lesion detection in cancer predisposition syndrome surveillance and in the workup of children with known malignancies, and diagnosis and monitoring of a host of infectious and non-infectious inflammatory conditions. Choosing which patients are most likely to benefit from this technology is crucial, but so is adjusting protocols to the patient and disease to optimize lesion detection. The focus of this review is on protocols and the elements impacting image acquisition in pediatric whole-body MRI. We consider the practical aspects, from scanner and coil selection to patient positioning, single-center generic and indication-specific protocols with technical parameters, motion reduction strategies and post-processing. When optimized, collectively these lead to better standardization of whole-body MRI, and when married to systematic analysis and interpretation, they can improve diagnostic accuracy.

Unbalanced serum immunoglobulins in clinical subtypes of pediatric tuberculosis disease.

Immune response to tuberculosis (TB) has been extensively studied in the past decades and classically involves cellular immunity. However, evidence suggests that humoral immunity may play a relevant role. Past studies regarding serum immunoglobulin (Ig) levels in TB are dated and only involve adult subjects. In this study, we retrospectively studied a cohort of 256 children with TB disease and analyzed 111 patients screened for total serum Ig at diagnosis. According to the severity and extent of organ involvement, subjects were divided into four groups, namely, uncomplicated pulmonary TB (UCPTB, 56.3% of patients), complicated pulmonary TB (CPTB, 22.5%), lymph node extrapulmonary TB (LN-EPTB, 7.2%), and extra-nodal extrapulmonary TB (EN-EPTB, 13.5%). Serum IgG and IgA levels were significantly higher in more severe and extended TB disease. Median IgG levels progressively increased from uncomplicated to complicated pulmonary and nodal forms, reaching their highest values in diffuse extra-pulmonary TB. In parallel, UCPTB showed significantly lower frequencies of patients presenting a substantial increase in IgG levels when compared with the other three groups. No relevant differences in IgM levels were detected. Ig screening at follow-up showed a significant reduction in IgG and IgA levels. Finally, we unveiled three cases of selective IgA and one case of selective IgM deficiencies (SIgMD), the latter with a severe clinical course. Serum IgG and IgA may be a useful clinical tool to assess the severity and monitor the treatment response in pediatric TB disease. Moreover, immunological workup in children with TB disease may unmask primary defects of humoral immunity.

Clinical Utility of 18F-FDG PET/CT in the Work-up of Children with Uveitis

ABSTRACT Purpose To evaluate 18F-fluorodeoxyglucose Positron Emission Tomography/ultra low dose Computed Tomography (18F-FDG PET/ ULD CT) in the work-up of pediatric uveitis. Methods Retrospective study of 12 children followed for uveitis who underwent whole body 18F-FDG PET/ULD CT between 2011 and 2019. Results The average age of the patients was 11 years. A total of 100% of patients presented with bilateral uveitis, 50% had panuveitis and 92% had various choroidal involvement. Relevant information for diagnosis was provided in four patients. 5/12 had an abnormal 18F-FDG uptake. Of these, three patients had pathognomonic images of active granulomatous diseases. Three patients underwent PET CT-guided biopsies of which two were positive for sarcoidosis. Conclusion 18F-FDG PET/CT provided important information for final diagnosis in approximately 30% (4/12) of pediatric patients with bilateral uveitis. Whole body FDG PET/ULD CT can contribute to the final diagnosis thanks to pathognomonic image of active granulomatous disease and/or by indicating metabolically active site of biopsy that would not be visualized in thorax CT.

Pediatric acute disseminated encephalomyelitis associated with myelin oligodendrocyte glycoprotein antibodies

Introduction. Myelin oligodendrocyte glycoprotein antibody associated disorders (MOGAD) are immunemediated inflammatory conditions of the central nervous system (CNS) with a wide clinical phenotypic variability. In order to further understand the possible phenotype of MOGAD here we report a pediatric case of acute disseminated encephalomyelitis (ADEM) associated with MOG antibodies. Case outline. A previously healthy four-month-old infant presented due to a 1-day history of fever up to 39?C and vomiting. On admission, she was encephalopathic. Repetitive and frequent stereotyped dystonic movements were observed. Cerebrospinal fluid (CSF) examination showed pleocytosis (lymphocytes were predominant) and proteinorachy. CSF culture and virology results were negative. Serum MOG antibodies were positive. A prolonged electroencephalography showed continuous high-amplitude slow rhythmic activity with captured stereotyped movement. Epileptic discharges were not seen. Although magnetic resonance imaging showed signs of acute demyelinating encephalomyelitis, our patient did not have seizures, despite neuroimaging findings of cortical lesions. Acute treatment with the corticosteroids led to excellent response with full recovery. Conclusion. This case emphasizes the inclusion of the MOG antibodies testing in the initial work-up in children presenting with acute encephalopathy associated with demyelinating or encephalitic abnormalities on brain and/or spinal magnetic resonance imaging even when the clinical phenotype is unusual. The prompt diagnosis of MOGAD is relevant for accurate disease monitoring and treatment strategies.

Role of computed tomography and MRI in children with sensorineural hearing loss

Background and aim Given the tremendous developments in visualization science, there are many congenital and acquired internal ear anomalies that have no radiological signs. However, visualization is an important instrument for the assessment of congenital and acquired sensory neural hearing loss (SNHL) triggers. The aim is to assess the value of multidetector computed tomography (MDCT) and MRI in internal ear abnormality detection in children with SNHL. Patients and methods This study included 100 children of 10 years or younger with SNHL. The cochlea, the vestibule, the three semicircular canals, the endolymphatic duct, and the internal acoustic canal. In addition, three-dimensional DRIVE MRI gives good demonstration of all four nerves within the internal acoustic canal. Results A total of 46 malformations were detected in only 25 patients with 42 malformations that were detected in MDCT examination presenting 91% of all abnormalities, while in MRI examination, 44 malformations are detected presenting 96% of all abnormalities. MDCT showed accuracy, sensitivity, and specificity 96.7, 91.3, and 100%, respectively, while for MRI, it showed accuracy, sensitivity, and specificity 98.3, 95.7, and 100%, respectively. Conclusion Imaging plays an important role in the workup of children with SNHL. Therefore, it is imperative to define the etiology of hearing loss. High-resolution CT and MRI modalities are the two principal radiological investigations to detect various pathologies in the inner ear. ‘Dual-modality imaging’ using both MRI and CT, made sense for many patients because the dual-scan approaches detect abnormalities related to hearing loss that would not otherwise be found using either modality alone.

Objective confirmation of asthma diagnosis, treatment adherence and patient outcomes in children and adolescents.

The aim of this study was to investigate the diagnostic workup in children with asthma hypothesising that objective confirmation of the diagnosis is associated with improved treatment adherence and patient outcomes. We reviewed medical records of children aged 5-18years diagnosed with asthma at the Department of Paediatric and Adolescent Medicine, Herlev-Gentofte Hospital, Denmark, in 2018. Objective confirmation of the diagnosis was based on either (1) lung function, (2) bronchodilator response, (3) bronchial hyperresponsiveness and/or (4) elevated FeNO and was associated with treatment adherence (proportion of days covered, PDC), lung function development and exacerbations during a two-year follow-up period. A total of 88 children were included. Asthma was objectively confirmed in 67 (76%). Children with objective confirmation of the diagnosis were more likely to redeem short-acting beta-2-agonist prescriptions: at least once, aOR=1.3 (95% CI, 1.1-13.1), p=0.036, and were more adherent to inhaled corticosteroid treatment: PDC>80%, aOR=10.4 (1.8-201.1), p=0.033. Further, objective confirmation was associated with improved lung function and reduced bronchodilator response, but not with exacerbations. Objective confirmation of the asthma diagnosis in children is associated with an increased treatment adherence and improved lung function, which underlines the importance of conducting objective tests in the diagnostic workup in paediatric asthma management.

Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations

IntroductionArthrogryposis multiplex congenita (AMC) refers to a clinical presentation of congenital contractures involving two or more body areas. More than 400 distinct conditions may lead to AMC, making the aetiological...

Whole-body MRI in pediatric undefined inflammatory conditions.

Whole-body magnetic resonance imaging (WBMRI) is a multiregional imaging technique suitable for investigating the extent of multisystemic diseases without exposure to radiation, with a high sensitivity to bone alterations. The aim of our study was to evaluate the role of WBMRI in the workup of children with non-specific musculoskeletal features and non-indicative laboratory and instrumental data, who were suspected to have a rheumatologic disease. We retrospectively analyzed medical records, including laboratory tests and radiological data of 34 children who had been evaluated due to non-specific musculoskeletal manifestations, for which a WBMRI was prescribed. We included 34 children, 19 females and 15 males, mean age 10 years (range 2-16 years), with the following clinical features: diffuse arthralgia (12 children), persistent fever (2 children), persistent fever and diffuse arthralgia (20 children). Serologic inflammatory markers were increased in 29/34 patients. Twenty-five children had already received X-ray and / or ultrasound before WBMRI, with a negative / uninformative result. WBMRI was performed 3-6 weeks (median, 3.5 weeks) after the initial presentation of symptoms. In 22/34 (65%) children, WBMRI revealed some abnormalities that supported the final diagnosis. Twelve out of 34 children (35%) were be affected by chronic recurrent multifocal osteomyelitis. WBMRI is helpful in pediatric rheumatology for the differential diagnosis of undefined inflammatory conditions. It appears to be a promising tool, especially in the detection of multifocal bone lesions. The diagnosis that mainly benefits from WBMRI in our series is chronic recurrent multifocal osteomyelitis. WBMRI can also help in excluding neoplastic diseases.

Colonic mucosal eosinophilia in children without inflammatory bowel disease

Children undergoing colonoscopy and mucosal biopsies may show increased colonic mucosal eosinophils, which may or may not be associated with inflammatory bowel disease. There is not much clinical data on American children who have isolated increased colonic mucosal eosinophils. We sought to study the clinical correlates of children without inflammatory bowel disease who show increased mucosal eosinophils to understand their clinical presentation, etiological associations, and outcome. A retrospective analysis of children seen at a tertiary-level Children's hospital was performed by reviewing their medical charts and extracting pertinent data. There were 110 children in the study who had increased colonic mucosal eosinophils. Most children presented with abdominal pain, but several of them also had constipation, blood in stools, and diarrhea. Food allergies, irritable bowel syndrome, asthma, and lactase deficiency were the top four conditions present in these patients. Pathology of the colonic distribution revealed involvement of more than two colonic regions in 86% of the subjects, and only two subjects showing epithelial or crypt involvement by eosinophils. All subjects had a good outcome. Children with colonic mucosal eosinophilia (CME) who do not have an inflammatory bowel disease most frequently present with abdominal pain and primarily an increase of lamina propria eosinophils in two or more colonic regions. Based on the etiological associations we noted in the study, a work-up of children with CME may encompass detailed history for functional gastrointestinal disorders and lactose intolerance, testing for food and environmental allergies, stool examination for parasites, and peripheral blood counts. Almost all children had resolution of symptoms in the studied period suggesting that CME in children has a good clinical outcome.

Psychogenic Nonepileptic Seizures in Children and Adolescents

Though psychogenic non-epileptic seizures (PNES) are seen commonly during evaluation of children and adolescents with epilepsy, the literature regarding developmental changes in PNES is limited. Literature search was conducted in PubMed. Key search terms included: Pseudoseizure* OR PNES OR [(non-epileptic or nonepileptic or psychogenic or non-epileptic attack disorder) AND (seizure*)], resulting in 3,236 articles. Filters included human, ages 1-18 years, English language and last 15 years (2004-2019), resulting in 533 articles. We reviewed 33 articles, which included 19 articles that involved children (1-18 years), with 10 or more children with PNES in their study group. 21 articles obtained in cross references that were outside the filter setting (including time frame and age range) were also reviewed, for a total of 54 articles. Majority of the studies were retrospective. We detail clinical features, predisposing factors and appropriate workup for children and adolescents with possible PNES. There is no consensus regarding frequency of psychiatric comorbidities in children with PNES. No controlled trials of treatment of PNES in children are available, but cognitive behavioral therapy is the consensus for adult PNES. Outcome appears to be better in children with PNES. There is a need for be long-term prospective studies to document various clinical features and outcome of pediatric and adolescent PNES, and also the comorbid conditions.

Usefulness of long-term telemetric electrocardiogram monitoring in the diagnosis of tachycardia in children with a medical history of palpitations.

In children, palpitations, which may result from a life‑threatening tachyarrhythmia, are one of the most common causes of cardiac visits and hospitalizations. Effective diagnosis is essential in this population of patients. This study aimed to assess the usefulness of long‑term telemetric electrocardiograms compared with Holter monitoring in the diagnostic workup in children with palpitations. A total of 350 children with undocumented palpitations were examined in a multicenter study. In 167 patients (47.7%), the TELE group, month‑long continuous telemetric electrocardiogram monitoring (using the PocketECG system) was performed. In 183 patients (52.3%), the HOLT group, 24‑hour Holter electrocardiography was carried out and repeated after a month if tachyarrhythmia was not recorded. A total of 152 children (43.4%) reported palpitations, and 36.2% of them had sinus tachycardia during palpitations. Tachyarrhythmias were recorded in 68 patients (40.7%) in the TELE group and in 7 (3.8%) in the HOLT group after the second examination (P<0.001); the mean time to record tachycardia was 15.8 (8.7) days versus 25.4 (11.1) days (P = 0.004). In the TELE group, we noted a greater number of children with palpitations during recording (62.9% vs 18%), tachycardia with normal QRS complexes (21.6% vs 1.6%), ventricular tachycardia (11.4% vs 0.5%), and asymptomatic arrhythmias than in the HOLT group. In children, long‑term telemetric electrocardiogram monitoring using the PocketECG system is well tolerated and has a high diagnostic efficacy. In young patients with palpitations, telemetric cardiac monitoring lasting up to a month increased the number of patients with recorded tachyarrhythmia by almost 10-fold compared with the analysis of 2 Holter electrocardiograms. We found that a large number of children have asymptomatic cardiac arrhythmias.

Reduced Exercise Tolerance Does Not Always Mean Bronchial Asthma.

Reduced exercise tolerance in a patient in whom any heart diseases were preliminarily excluded suggests other frequent causes of effort-related symptoms, that is, exercise-induced bronchoconstriction, lack of training, or overweight. The presented case underscores the importance of comprehensive diagnostic workup in children with exercise-related symptoms.

Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.

Underlying medical causes of obesity (endocrine disorders, genetic obesity disorders, cerebral or medication-induced obesities) are thought to be rare. Even in specialized pediatric endocrinology clinics, low diagnostic yield is reported, but evidence is limited. Identifying these causes is vital for patient-tailored treatment. To present the results of a systematic diagnostic workup in children and adolescents referred to a specialized pediatric obesity center. This is a prospective observational study. Prevalence of underlying medical causes was determined after a multidisciplinary, systematic diagnostic workup including growth charts analysis, extensive biochemical and hormonal assessment and genetic testing in all patients. The diagnostic workup was completed in n = 282 patients. Median age was 10.8 years (IQR 7.7-14.1); median BMI +3.7SDS (IQR +3.3-+4.3). In 54 (19%) patients, a singular underlying medical cause was identified: in 37 patients genetic obesity, in 8 patients cerebral and in 9 patients medication-induced obesities. In total, thirteen different genetic obesity disorders were diagnosed. Obesity onset <5 years (p = 0.04) and hyperphagia (p = 0.001) were indicators of underlying genetic causes, but only in patients without intellectual disability (ID). Patients with genetic obesity with ID more often had a history of neonatal feeding problems (p = 0.003) and short stature (p = 0.005). BMI-SDS was not higher in patients with genetic obesity disorders (p = 0.52). Patients with cerebral and medication-induced obesities had lower height-SDS than the rest of the cohort. To our knowledge, this is the first study to report the results of a systematic diagnostic workup aimed at identifying endocrine, genetic, cerebral or medication-induced causes of pediatric obesity. We found that a variety of singular underlying causes were identified in 19% of the patients with severe childhood obesity. Because of this heterogeneity, an extensive diagnostic approach is needed to establish the underlying medical causes and to facilitate disease-specific, patient-tailored treatment.

Clinical and imaging features of children with autoimmune encephalitis and MOG antibodies

ObjectiveTo describe the presentations, radiologic features, and outcomes of children with autoimmune encephalitis associated with myelin oligodendrocyte glycoprotein antibodies (MOG abs).MethodsIdentification of children fulfilling the diagnostic criteria for possible autoimmune encephalitis (AE) and testing positive for serum MOG abs. Chart review and comprehensive analysis of serum MOG abs using live cell assays and rat brain immunohistochemistry.ResultsTen children (4 girls, 6 boys) with AE and serum MOG abs were identified. The median age at onset was 8.0 years (range: 4–16 years). Children presented with a combination of encephalopathy (10/10), headache (7/10), focal neurologic signs (7/10), or seizures (6/10). CSF pleocytosis was common (9/10, median 80 white cell count/μL, range: 21–256). Imaging showed cortical and deep gray matter involvement in all in addition to juxtacortical signal alterations in 6/10 children. No involvement of other white matter structures or contrast enhancement was noted. MOG abs were detected in all children (median titer 1:640; range: 1:320–1:10,540). Nine children had a favorable outcome at discharge (modified Rankin scale of < 2). Five of 10 children had up to 3 additional demyelinating relapses associated with persisting MOG abs. One child had NMDA receptor (NMDAR) abs at initial presentation. A second child had a third demyelinating episode with MOG abs with overlapping NMDAR encephalitis.DiscussionAE associated with serum MOG abs represents a distinct form of autoantibody-mediated encephalitis in children. We therefore recommend including MOG abs testing in the workup of children with suspected AE.