Imaging Findings In Children Research Articles

Single-center experience and evaluation of rare ıntracranial abscesses in childhood

BackgroundIntracranial abscess (IA) is a rare disorder in childhood. Clinical manifestations of brain abscess include headache, fever, and focal neurological deficits. This study aimed to examine the demographic, clinical, laboratory, and imaging findings in children with IA.MethodsChildren admitted to the pediatric infection service with a diagnosis of IA between 2011 and 2022 were included in the study. Abscesses were divided into two groups: infratentorial and supratentorial. Demographic characteristics of the patients, complaints, MRI findings, and follow-up data were recorded and compared between the two groups.ResultsThe study included a total of 23 patients, 9 (39.1%) of whom were male, with a mean age at diagnosis of 79.3 ± 65.4 months. The most common complaints were headache (39.1%), fever (91.3%), focal neurological deficits (60.9%), seizures, loss of consciousness (26.1%), and meningitis findings (60.9%). The most frequent etiology was post-operative procedures (30.4%), followed by a history of meningomyelocele (13%), and congenital heart disease (8.7%). On MRI, 68.7% of the supratentorial abscesses were multiple and commonly localized in the frontal and parietal regions. Treatment included ceftriaxone (82.6%), vancomycin (65.2%), meropenem (43.5%), metronidazole (34.8%), and linezolid (17.4%). The median hospitalization duration for patients was 32 days (range: 14–150). Of the patients, 34.8% were hospitalized and followed in the intensive care unit, and neurosurgery performed surgical interventions in 60.9% of cases, with evacuation in 21.7% of cases. In cultures, the causative agent was identified on average within 4 ± 1.3 days. Recurrence of abscess occurred in three (13%) cases, and 13% of cases had residual sequelae.ConclusionsIntracranial abscess is a rare infectious disease that can result in long-term neurological deficits requiring extended follow-up and treatment. A correct and effective approach also positively impacts the prognosis of patients.

Baseline and Follow-Up Cardiac Magnetic Resonance Imaging Findings in Children with Acute Myocarditis and Factors Associated with Late Gadolinium Enhancement.

Objectives: Cardiac magnetic resonance (CMR) plays a central role in the diagnosis and follow-up of acute myocarditis (AM). In this study, we aimed to evaluate baseline and follow-up CMR findings and associated factors in children with AM. Methods: A retrospective analysis of CMR in pediatric patients with clinical presentations suggestive of myocarditis was performed. Patients' demographic characteristics, clinical data, and diagnostic test results, as well as CMR imaging results, were evaluated. Results: All 28 pediatric patients with acute myocarditis included in this study had late gadolinium enhancement (LGE) on initial CMR imaging. Additionally, 14 (50%) patients had increased extracellular volume (ECV), 4 (50%) patients had focal high-intensity areas on T2 STIR images, 15 (53.6%) patients had increased T1 relaxation time, and 17 (60.7%) patients had increased T2 relaxation time. At a median follow-up CMR of 6 months, 24 (85.7%) patients had LGE, 5 (17.9%) patients had increased ECV, and 7 (25%) patients had increased T1 relaxation time, while other parameters showed complete recovery. Baseline troponin and CRP levels, T1 relaxation time, T2 relaxation time, and increased ECV were found to be factors associated with the resolution of LGE. Conclusions: Baseline troponin and CRP levels, as well as T1 relaxation time, T2 relaxation time, and increased ECV, were effective parameters that seemed to predict the resolution of LGE. Larger and multicenter experiences would confirm these hypotheses.

Comparison of clinical and abdominal CT imaging findings in children evaluated for abusive and accidental abdominal trauma.

Diagnosis of child abuse in children evaluated for a blunt abdominal trauma can be challenging due to overlapping types of injuries. Identify clinical characteristics and CT findings that differentiate children evaluated for accidental abdominal trauma (AcAT) and abusive abdominal trauma (AbAT). Retrospective (1/2010 to 6/2024) study on children < 3 years-old who had an abdominal CT scan for AcAT or AbAT. Demographic, clinical, and imaging variables were compared between CT-positive child abuse, and accidental trauma. Abdominal CT positive for trauma was found in 26.5% (82/309) children that were evaluated for AAT and in 28.8% (42/146) for AcAT. Children with positive CT for AbAT were significantly younger (average age 0.9 ± 0.9 versus 1.8 ± 0.9 years), and most (70.7%) were younger than one year old. Most children evaluated for AbAT with positive CT (70.7%) had an unknown cause of injury. The most common mechanism provided for abused children was low height fall (18/82, 22.0%) as compared with no low height fall in accidental trauma (p < 0.001). Rib fractures were identified on CT in 5049/82 children (61.059.8%) evaluated for AbAT as compared with 4/42 (9.5%) in children evaluated for AcAT (p < 0.001). In children evaluated for blunt abdominal trauma, presence of rib fractures should alert radiologists to the possibility of child abuse. Abused children were mostly younger than one year, with an unknown mechanism of injury or a fall from a low height.

Comparative Analysis of Pediatric Patients with Different Involvements of Brucellosis.

Brucellosis is a zoonotic disease that mimics many other diseases, making diagnosis difficult in pediatric patients. If the clinical signs of the disease are not well known and there is a delay in diagnosis and treatment, complicated brucellosis involving different body sites can develop. This study aimed to analyze the demographics, clinical information, laboratory test results, and imaging findings of children with brucellosis. Particular attention was paid to the involvement of organs and potential complications. Pediatric patients diagnosed with brucellosis at the Sanlıurfa Training and Research Hospital in Turkey were retrospectively evaluated. In total, 101 patients diagnosed with brucellosis were included in this study. Bone-joint involvement was observed in 21 (20.7%) patients. High Brucella Coombs gel test (CT) titers (≥1/640) and increased erythrocyte sedimentation rate (ESR) were significant in the bone-joint brucellosis group (P = 0.022 and P = 0.0205, respectively). Fourteen (13.9%) patients had at least one organomegaly in which Brucella CT titers and C-reactive protein (CRP) levels were substantially higher than those in patients without organomegaly (P = 0.02 and P = 0.0049, respectively). Anemia, leukopenia, and thrombocytopenia were observed in 36 (35.6%), 10 (9.9%), and 4 (3.9%) patients, respectively. At least one elevation in liver function test (LFT) results was observed in 32 (31.7%) patients. High acute-phase reactants, such as ESR, CRP levels, and Brucella CT titers, may help identify complicated brucellosis. This study highlights that pediatric brucellosis can lead to cytopenia and elevated LFT results and should therefore be considered as a differential diagnosis.

Ultrawidefield Fluorescein Angiography and OCT Findings in Children and Young Adults with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a rare genetic (CAPN5) autoimmune condition typically diagnosed in adulthood and characterized by a triad of inflammation, retinal degeneration, and neovascularization. We report novel multimodal imaging findings in children and young adults with ADNIV, and early treatment response to short-duration local and systemic corticosteroids. Retrospective consecutive case series. Ten patients aged <25 years with ADNIV and available multimodal imaging. The medical records of patients aged <25 years with a diagnosis of ADNIV with ultrawidefield fluorescein angiography (UWFFA) and OCT data were reviewed. Ultrawidefield fluorescein angiography and OCT findings at baseline and after local corticosteroids. Median age at presentation was 14 years (range, 9-24 years). OCT on presentation demonstrated cystoid macular edema in 8 of 20 eyes and symptomatic vitreoretinal interface disease in 2 of 20 eyes. Initial UWFFA demonstrated retinal vascular leakage (20/20 eyes, 100%), peripheral nonperfusion (13/20 eyes, 65%), and retinal neovascularization (6/20 eyes, 30%). Retinal vascular leakage improved with local corticosteroids, and neovascularization regressed with anti-VEGF therapy. Ultrawidefield fluorescein angiography findings of prefibrotic ADNIV reported in adults were also present in children and young adults. Early testing for a pathogenic CAPN5 variant in at-risk children and regularly scheduled screening for uveitis and retinal vasculitis with UWFFA and OCT may prompt earlier intervention. Short-duration local steroids are effective at treating retinal vascular leakage and macular edema but are not durable, suggesting a potential role for steroid-sparing immunosuppressive therapy. Early treatment may alter the natural history of disease. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Imaging findings of children with PTEN-related hamartoma tumor syndrome: a 20-year multicentric pediatric cohort.

PTEN-related hamartoma tumor syndrome results from a mutation in the PTEN gene located at 10q23.31. This syndrome represents a spectrum of different phenotypes of variable expressions, now recognized as part of the same condition. Patients with this mutation have an increased risk of developing a wide range of findings, including malignancies. Although widely described in adults, there are no large series describing the imaging findings in patients before adulthood. Knowledge of the findings seen in children and adolescents with PTEN-related hamartoma tumor syndrome can help guide further management and improve surveillance recommendations. To describe the spectrum of imaging abnormalities in pediatric patients with PTEN-related hamartoma tumor syndrome. We performed a retrospective, cross-sectional, multicenter study conducted between January 2000 and October 2021 in three tertiary pediatric institutions evaluating the imaging findings in children and adolescents (≤ 18 years) with confirmed diagnoses of a PTEN mutation. For each patient, the imaging findings, histopathology reports, and at least a 2-year follow-up of clinical outcomes for non-operative cases were documented. The cohort included 78 children (37 girls), with a mean age at diagnosis of 7.5 years (range 0 days to 18 years). Benign brain findings included enlarged Virchow-Robin perivascular spaces, white matter changes, developmental venous anomalies, and cerebellar hamartomas. Benign thyroid findings were common, but 5/45 (11.1%) with thyroid abnormalities had a malignant nodule. Soft tissue adipocytic tumors, GI/GU polyps, other soft tissue abnormalities, along with vascular anomalies in various anatomic locations were common. Brain abnormalities, benign non-vascular soft tissue abnormalities, and vascular anomalies are commonly seen in children and adolescents with PTEN-related hamartoma tumor syndrome. However, malignancies involving the thyroid gland are not uncommon. Familiarity with the phenotype of PTEN-related hamartoma tumor syndrome in the pediatric population can improve diagnosis and prompt appropriate clinical surveillance of abnormal findings that warrant further management.

Brain magnetic resonance imaging findings in children with neurological complications of coronavirus disease 2019 (Omicron variant): a multicenter retrospective observational study.

An increasing rate of encephalopathy associated with coronavirus disease 2019 (COVID-19) has been observed among children. However, the literature on neuroimaging data in children with COVID-19 is limited. To analyze brain magnetic resonance imaging (MRI) of pediatric COVID-19 patients with neurological complications. This multicenter retrospective observational study analyzed clinical (n=102, 100%) and neuroimaging (n=93, 91.2%) data of 102 children with COVID-19 infections and comorbid acute neurological symptoms. These children were hospitalized at five pediatric intensive care units (PICUs) in China between December 1, 2022, and January 31, 2023. All patients were positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) as detected via reverse transcriptase polymerase chain reaction. About 75.7% of the children were infected with the Omicron variant BF.7 strain. Brain MRI was performed 1-12 days following the onset of neurological symptoms, which revealed acute neuroimaging findings in 74.2% (69/93) of cases, including evidence of acute necrotizing encephalopathy (33/69, 47.8%), encephalitis (31/69, 44.9%), reversible splenial lesion syndrome (3/69, 4.3%), reversible posterior leukoencephalopathy (1/69, 1.4%), and hippocampal atrophy (1/69, 1.4%). Overall, these data highlighted five neuroimaging patterns associated with the outbreak of the SARS-CoV-2 Omicron variant, with acute necrotizing encephalopathy being the most common of these neuroimaging findings. Rarely, the brain MRI of these pediatric COVID-19 patients also demonstrate hippocampal atrophy.

Clinical and Imaging Findings in Children with Myelin Oligodendrocyte Glycoprotein Antibody Associated Disease (MOGAD): From Presentation to Relapse.

Myelin oligodendrocyte glycoprotein-antibody associated disease (MOGAD) is an increasingly recognized cause of demyelinating disease in children. The purpose of this study is to characterize the CNS imaging manifestations of pediatric MOGAD and identify clinical and imaging variables associated with relapse. We retrospectively identified children with serum antibody-positive MOGAD evaluated at our institution between 1997 and 2020. Clinical and demographic data were collected. MRIs of the brain, orbit, and spine at presentation and relapse were reviewed for location and pattern of abnormality. Among 61 cases (34 girls), mean age at presentation was 7 years (IQR 4-11). At presentation, there was imaging involvement of the brain in 78.6% (44/56), optic pathway in 55.4% (31/56), and spine in 19.6% (11/56). Brain involvement was commonly in the frontal (70.5%, 31/44) and subcortical (75%, 33/44) white matter, with involvement of the thalamus and pons in 47.7% each (21/44). Optic neuritis (ON) was commonly bilateral (80.6%, 25/31) involving intraorbital segments (77.4%, 24/31). Spinal cord lesions were typically cervical (72.7%, 8/11) and multifocal (72.7%, 8/11).The imaging patterns were age-dependent; children ≤9 years more commonly demonstrated ADEM-like imaging pattern at presentation (39.4%, 13/33) and first relapse (8/23, 34.8%), while children >9 years more commonly had ON at presentation (34.8%, 8/23, P = .001) and FLAIR-hyperintense lesions in anti-MOG-associated encephalitis with seizures at first relapse (5/18, 27.8%, P = .008). We describe the CNS imaging findings in pediatric MOGAD. The imaging pattern is age-dependent at presentation and first relapse. Younger age at presentation is associated with longer time to relapse.

Unusual pediatric lung infections: imaging findings

Pediatric lung infections continue to be a leading cause of pediatric morbidity and mortality. Although both pediatric and general radiologists are familiar with typical lung infections and their imaging findings in children, relatively rare lung infections continue to present a diagnostic challenge. In addition, the advances in radiological imaging and emergence of several new lung infections in recent years facilitated the need for up-to-date knowledge on this topic. In this review article, we discuss the imaging findings of pediatric lung infections caused by unusual/uncommon and new pathogens. We review the epidemiological, clinical, and radiological imaging findings of viral (coronavirus disease 2019, Middle East respiratory syndrome, bird flu), bacterial (Streptococcus anginosus, Francisella tularensis, Chlamydia psittaci), and parasitic lung infections (echinococcosis, paragonimiasis, amoebiasis). Additional disorders whose clinical course and imaging findings may mimic lung infections in children (hypersensitivity pneumonitis, pulmonary hemorrhage, eosinophilic pneumonia) are also presented, to aid in differential diagnosis. As the clinical presentation of children with new and unusual lung infections is often non-specific, imaging evaluation plays an important role in initial detection, follow-up for disease progression, and assessment of potential complications.Graphical

The Radiological Manifestations of Phagocytic Primary Immunodeficiencies in Children.

Primary immunodeficiencies are a diverse group of rare genetic disorders, among which phagocytic dysfunction impairs neutrophil function in a wide range of inherited disorders. Due to the heterogeneity of the disorders a multidisciplinary approach is often required for early diagnosis and initiation of appropriate treatments. The aim of this study was to evaluate the imaging findings in children admitted with phagocytic primary immunodeficiencies. Thirty-five children who fulfilled the inclusion criteria for phagocytic dysfunction were enrolled in this study. The patients were under close observation and monitoring from January 2011 until data locking in December 2017. The diagnosis of phagocytic immunodeficiency was confirmed by the patient's clinical course, presentation features, and laboratory data. Among the 35 patients studied, the most frequent condition was chronic granulomatous disease (CGD) (23 patients), followed by different types of neutropenia (8 patients) and Job's syndrome (4 patients). Mediastinal and hilar lymphadenopathies and consolidation were the most frequent presentations. There was a significant relationship between mediastinal/hilar lymphadenopathies and fungal infections. A meaningful relationship was also found between pulmonary noduleswithout halo signs in patients with concomitant tuberculosis and fungal infections. A significant correlation was found between CGD, pulmonary fibrotic changes, and mediastinal lymphadenopathies. The most frequent radiological manifestations in children included mediastinal and hilar consolidations. Physicians' awareness of the radiological and clinical manifestations of these inherited diseases may be helpful in the early diagnosis and timely initiation of specific prophylaxis measures to prevent infections and also to initiate hematopoietic stem cell transplantation as the curative management modality.

Relationship between gross motor function and magnetic resonance imaging findings in children with cerebral palsy

This cross-sectional study was carried out at the department of Pediatric Neurology, Institute of Pediatric Neurodisorder and Autism, Bangabandhu Sheikh Mujib Medical University, Dhaka with the aim to assess the relationship between gross motor function and MRI findings in children with cerebral palsy. The duration of the study was 12 months. All the cerebral palsy cases who met the selection criteria were enrolled. Detailed history taking and physical examination was done. The gross motor function of all cases was evaluated according to Gross Motor Function Classification System- Expanded and Revised (GMECS-E and R). Magnetic resonance imaging of brain was done in all enrolled patients and reports were evaluated. MRI findings were classified as maldevelopment, cortical and subcortical gray matter lesion, periventricular white matter injury, basal ganglia lesion, normal and other findings. A total of 45 children with cerebral palsy aged between 2 to 12 years were included in this study. Mean age of the children was 4.73 (+3.17) years. Male were 31 and female were 14 in number. Functionally majority patients were in GMFCS level IV (26.7%) and level V (20%). MRI findings were abnormal in 35 (77.78%) cases. Most common abnormal MRI finding was cortical and subcortical grey matter lesions 22 (48.9%). This study revealed that cortical and subcortical gray matter lesions were significantly associated with higher level of GMFCS (IV-V) (P=0.038) and maldevelopment of brain were also significantly associated with higher level of GMFCS (P=0.01). Normal MRI findings had significant association with mild to moderate GMFCS level (I-III) (P=0.012). From this study significant relationship was found between gross motor function and MRI of brain findings in children with cerebral palsy.

Obesity, but not glycemic control, predicts liver steatosis in children with type 1 diabetes

Nonalcoholic fatty liver disease (NAFLD), the most common liver disease in children, is strongly associated with obesity and insulin resistance. Although type 1 diabetes (T1D) is characterized by insulin deficiency, increasing obesity rates among children with T1D is a major risk factor for NAFLD in this patient population. Predisposing factors for NAFLD in children with T1D are not known. This is a cross-sectional study comparing children with T1D across the range of body mass index (BMI) to the BMI-matched obese group without T1D. Hepatic steatosis was semi-quantitatively measured via the vibration-controlled transient elastogram (VCTE) method. Linear regression analysis was performed to assess the relationship between controlled-attenuated parameter (CAP) scores and clinical parameters. Receiver-operator curve (ROC) analysis was used to evaluate the diagnostic performance of several clinical parameters against NAFLD status determined via CAP. Two-thirds of subjects with obesity had CAP scores suggestive of NAFLD, while 16% (n=6) of T1D patients without obesity had elevated CAP. Obese subjects were different from non-obese subjects in many laboratory and clinical characteristics, regardless of T1D status. CAP score was significantly associated with BMI, HDL-Cholesterol (HDL-c), and HbA1c in all subjects as well as the T1D-only subgroup. Among subjects with obesity only, age, HDL-cand ALT were the most significant predictors. Diagnostic performance of BMI, HDL-c, and BMI/HDL ratio were in the good to the excellent range for predicting NAFLD among all subjects, while performance varied for T1D-only or obesity-only groups. The clinical and imaging findings of children with T1D and obesity are comparable to non-diabetic children with a similar degree of obesity. Obesity is the major risk factor for NAFLD in pediatric T1D. BMI, HDL-c, and BMI/HDL ratio may be helpful markers to determine further workup for NAFLD in children with T1D, particularly those with obesity.

Publication timeline of chest imaging reporting in children with coronavirus disease 2019 (COVID-19): a systematic review spanning 2020.

Amid the coronavirus disease 2019 (COVID-19) pandemic, numerous publications of imaging findings in children have surfaced in a very short time. Publications discuss populations of overlapping age groups and describe different imaging patterns. We aim to present an overview of the quantity and type of literature available regarding COVID-19 chest imaging findings in children according to a 2020 publication timeline. We conducted a systematic review using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline. We searched terminology related to COVID-19, chest, children and imaging modalities in PubMed and Embase. The included papers were published online in 2020 and described imaging findings specific to children and reported five or more cases. Two researchers reviewed each abstract to determine inclusion or exclusion, and a radiologist reconciled any disagreements. Then we reviewed full articles for the main analysis. Eligible study designs included original articles, case series (≥5 cases), systematic reviews and meta-analyses. We excluded non-English manuscripts, retracted articles, and those without available full text. The remaining articles were distributed to four pediatric radiologists (on the Society for Pediatric Radiology Thoracic Committee), who summarized chest imaging findings. Eighty-two articles were included in the final analysis — 28% in radiology journals and 71% in non-radiology journals; 71% contained original data and 29% were review-style papers. There was a disproportionate contribution of review-style papers in April (55%), considering the paucity of preceding publications with original data in March (5 papers). June had the highest number of publications (n=14), followed by April (n=11) and July (n=11). Most (52%) original papers were from China and most individual pediatric imaging descriptions were from China (57%), while the majority of review papers (83%) were international. Imaging descriptions were available for 2,199 children (1,678 CT descriptions and 780 chest radiography descriptions). Findings included a 25% normal CT scan reports vs. 40% normal chest radiography reports. Ground-glass opacification was the most common CT finding (33%) and was reported in only a minority of chest radiographs (9%). A significant amount of information on pediatric COVID-19 chest imaging has become rapidly available over a short period. Most publications in 2020 were original articles, but they were published more often in non-radiology journals. A disproportionate number of review articles were published early on and were based on little original pediatric imaging data. CT scan reports, which represent the standard, outnumbered radiographic reports and indicated that ground-glass opacification is the main imaging finding and that only a quarter of scans are normal in children with COVID-19.

Appendiceal involvement in pediatric inflammatory multisystem syndrome temporally associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2): a diagnostic challenge in the coronavirus disease (COVID) era

BackgroundMany studies on pediatric inflammatory multisystem syndrome temporally associated with severe acute respiratory syndrome coronavirus 2 (PIMS-TS) have described abdominal findings as part of multisystem involvement, with limited descriptions of abdominal imaging findings specific to PIMS-TS.ObjectiveTo perform a detailed evaluation of abdominal imaging findings in children with PIMS-TS.Materials and methodsWe performed a single-center retrospective study of children admitted to our institution between April 2020 and January 2021 who fulfilled Royal College of Paediatrics and Child Health criteria for PIMS-TS and who had cross-sectional abdominal imaging. We studied clinical data, abdominal imaging, laboratory markers, echocardiography findings, treatment and outcomes for these children. We also reviewed the literature on similar studies.ResultsDuring the study period, 60 PIMS-TS cases were admitted, of whom 23 required abdominal imaging. Most (74%) were from a Black, Asian or minority ethnic background and they had an average age of 7 years (range 2–14 years). All children had fever and gastrointestinal symptoms on presentation with elevated C-reactive protein, D-dimer and fibrinogen. Most had lymphopenia, raised ferritin and hypoalbuminemia, with positive severe acute respiratory syndrome coronavirus 2 immunoglobulin G antibodies in 65%. Free fluid (78%), right iliac fossa mesenteric inflammation (52%), and significantly enlarged mesenteric lymph nodes (52%) were the most common imaging findings. Appendiceal inflammation (30%) and abnormal distal ileum and cecum/ascending colon wall thickening (35%) were also common. All children responded well to medical management alone, with no mortality.ConclusionIn addition to free fluid, prominent lymphadenopathy, and inflammatory changes in the right iliac fossa, we found abnormal long-segment ileal thickening and appendicitis to be frequent findings. Recognition of appendiceal involvement as a component of the PIMS-TS spectrum should help clinicians avoid unnecessary surgical intervention as part of a multidisciplinary team approach.

Brain MR imaging findings in children with congenital muscular dystrophies

Congenital muscular dystrophies (CMDs) are a heterogeneous group of disorders presenting early in life during infancy or soon after birth with muscle weakness and hypotonia, sometime associated to severe brain involvement and histologically presenting with dystrophic lesions. They are classified on the basis of the clinical features, pathologic findings and pattern of inheritance. In fact most of these disorders are inherited and linked to specific genes. Several CDMs classifications have been proposed [1-3]. The main CMD subtypes, classified by pathogenic gene, are laminin alpha‐2 (merosin) deficiency (MDC1A), collagen VI-related CMD (COL6-RD), the dystroglycanopathies -such as Walker‐Warburg syndrome (WWS), Fukuyama CMD (FCMD), and muscle-eye-brain disease (MEB)-, SELENON (SEPN1)‐related CMD, and LMNA‐related CMD (L‐CMD) [4]. The incidence and prevalence of CMDs in various populations is not sufficiently known and may have been underestimated in early published CMD surveys owing to more limited diagnostic means available. Point prevalence in various studies ranges from 0.56 to 2.5 per 100,000 [5-10]. The relative frequency of CMD subtypes also varies in different populations. The most common CMD subtypes are laminin-α2 related CMD and dystroglycanopathies, followed by collagen VI-related CMD. The forms of congenital muscular dystrophy related to mutations in SEPN1 and LMNA are less frequent [9,11]. CMDs are often autosomal recessive, but some cases have been found to follow autosomal dominant patterns, by direct inheritance, spontaneous mutations, or mosaicism. Clinical genetic testing is available for virtually all genes known to be associated with CMDs. However, many affected individuals remain without a genetic diagnosis, an indicator that novel disease genes have yet to be identified [3]. Differential diagnosis of patients presenting with weakness in early infancy includes: Congenital myopathies like central core, nemaline road, and centronuclear myopathy and those secondary to metabolic disorders; Disorders of the myoneural junction including congenital myasthenia gravis and infant botulism and Neuropathies like spinal muscular atrophy (SMA) and hereditary motor sensory neuropathy (HMSN) [12]. Nowadays the diagnosis is based on clinical presentation, laboratory tests and genetic investigations. Muscular biopsy can be an important diagnostic tool if genetic tests are not available. Brain MRI and muscular MRI are performed if available. We discuss brain MR imaging findings in our patients with CMDs trying to outline common features and differences in order to aid in the diagnosis of these rare disorders before performing genetic tests.

CLINICAL AND IMAGING FINDINGS OF ACUTE EPIDIDYMITIS IN CHILDREN

(Objective) The etiology of acute epididymitis in children remains poorly understood. Several studies have demonstrated that urine tests are negative in the majority of children with acute epididymitis, and the condition is self-limiting. The need for radiological evaluation of the urinary tract in children with acute epididymitis is still debatable. The aim of this study was to describe clinical and imaging findings in children with acute epididymitis. (Methods) We identified 47 children with acute epididymitis at our institute between 2017 and 2021.We retrospectively reviewed their clinical features and radiological and laboratory data. All children underwent ultrasonography of the kidney and urinary tract. (Results) Median patient age was 9 years (range, 6 months-16 years) and 60% of the cases occurred between the ages of 7 and 12 years. Thirteen children (28%) had a past history of genitourinary malformations. The common malformations were hypospadias in eight children and bladder dysfunction in three. Ultrasound revealed no new urinary tract abnormalities in the remaining 34 children. Urinalysis were performed in 27 children, nine of whom (33%) had pyuria. Urine culture was positive in two children. Of the nine children with genitourinary malformations, eight had pyuria. All 18 children without genitourinary malformations had a negative urinalysis except for one patient (p< 0.0001). (Conclusions) Acute epididymitis is a common cause of acute scrotum in pediatric patients. In this study, one-third of acute epididymitis cases presented pyuria, and about 30% had a past history of genitourinary malformations. The presence of pyuria was associated with a past history of genitourinary malformations. For children with no previous genitourinary malformations, routine use of ultrasound for the detection of urinary tract abnormalities is questionable due to the low yield.

Piriform fossa sinus tract - a 15-year retrospective review with a focus on atypical neonatal presentations.

Third and fourth branchial anomalies are rare, accounting for less than 10% of all branchial anomalies. The piriform fossa sinus tract (PFST) typically presents with left-side suppurative thyroiditis, although it can present earlier in neonates as a non-inflamed cystic neck mass. PFST poses a considerable diagnostic challenge with variable clinical and imaging features, leading to long delays to definitive diagnosis and appropriate management. To analyse the patterns of presentation and imaging findings in children with PFST, with a particular focus on neonatal presentation. This was a retrospective review of the clinical presentation, imaging findings and management in 16 cases of PFST presenting to our tertiary children's hospital between 2003 and 2018. Cases were identified by medical records and picture archiving and communication system (PACS) search using relevant International Classification of Diseases (ICD)-10 coding. Age at presentation ranged from prenatal to 16years, with a male-to-female ratio of 2:1. All patients presented with neck swelling. Thirteen patients (81%) had suppurative thyroiditis at initial presentation. Two patients had severe thyroiditis/mediastinitis that required intensive care unit admission. Three neonates presented with noninfected, asymptomatic large cystic neck masses; two of these were detected prenatally and misdiagnosed as lymphatic malformations with subsequent spontaneous clinical resolution that later represented with evidence of PFST. The PFST was on the left side in 15/16 (94%) patients. All patients had neck imaging before definitive diagnosis. Imaging studies included radiographs, ultrasound, computed tomography, magnetic resonance imaging and barium esophagram studies. No single modality was diagnostic of PFST in all patients. Seventy-five percent of patients had multimodal imaging before diagnosis. All PFSTs were confirmed by endoscopic visualisation. Management of PFST was by endoscopic cauterisation in 13 patients and open surgery in 2. One patient did not require surgical correction. Our study highlights the complex nature of PFST. The anomaly is uncommon, has variable clinical and imaging features and may have a lengthy, complicated course if not considered at initial presentation. An episode of suppurative thyroiditis in a child should prompt investigation for PFST. We describe atypical presentations with cystic masses in neonates that appear to resolve but represent later as typical clinical features of PFST.

Evaluation of the Relationship of the Time of Vesicoureteral Reflux Between Renal Scar Development and Endoscopic Treatment Success in Early Childhood

INTRODUCTION: Vesicoureteral reflux (VUR) is an important cause of urinary tract infection and chronic renal disease. Voiding cystourethrography (VCUG) is the gold standard diagnostic test in the diagnosis of VUR. In recent years, new parameters related to VCUG have been more objectively studied to evaluate the clinical prognosis. It is aimed to evaluate the effect of reflux time in primary VUR in terms of predicting endoscopic treatment success and treatment timing in VUR management. METHOD: In our study, the records and imaging findings of children with primary VUR who underwent VCUG examination between 2012 and 2019, who were treated with endoscopic injections, were retrospectively reviewed. Forty one children (67 renal units) were included in our study. Patients with preoperative VCUG, urinary ultrasonography, dimercaptosuccinic acid (DMSA) renal scan, and post-operative control VCUG were included in this study. RESULTS: Patients with preoperative VUR grade 1-2 were divided into two groups as “low grade” and patients with stage 3-4-5 as “high grade”. In the general patient population, endoscopic success rates in terms of renal unit deficit were found to be 46.3% (31/67). When the subgroup was analyzed, the endoscopic treatment success rate was 72.2% (13/18) in the low-grade group, versus 36.7% (18/49) in the high-grade group (p = 0.010). In the multivariate logistic regression analysis performed to identify independent predictors of scarring, reflux degree and reflux time were found to be independent predictors of scarring. CONCLUSION: In our study, we found that in VCUG evaluated preoperatively, VUR time as well as VUR grade were effective on endoscopic success rate and scar development. Based on these results, it could be thought that VUR time may be effective in selecting the best candidates for surgery and in the management and timing of treatment of VUR patients.

Magnetic resonance imaging findings in children with intractable epilepsy compared to children with medical responsive epilepsy

ObjectiveEpilepsy is a common brain disorder characterized by a persistent tendency to develop seizures in neurological, cognitive, and psychological contents. Magnetic Resonance Imaging (MRI ) is a neuroimaging test facilitating the detection of structural epileptogenic lesions. This study aimed to compare the MRI findings between patients with intractable and drug-responsive epilepsy.Material & MethodsThis case-control study was conducted from 2007 to 2019. The research population encompassed all 1-16-year-old patients with intractable epilepsy referred to the Shafa Neuroscience Center (n=72) (a case group) and drug-responsive patients referred to the pediatric neurology clinic of Baqiyatallah Hospital (a control group).ResultsThere were 72 (23.5%) patients in the intractable epilepsy group and 200 (76.5%) patients in the drug-responsive group. The participants’ mean age was 6.70± 4.13 years, and there were 126 males and 106 females in this study. Normal brain MRI was noticed in 21 (29.16%) patients in the case group and 184 (92.46%) patients in the control group.Neuronal migration disorder (NMD) was also exhibited in 7 (9.72%) patients in the case group and no patient in the control group. There were hippocampal abnormalities and focal lesions (mass, dysplasia, etc.) in 10 (13.88%) patients in the case group and only 1 (0.05%) patient in the control group.Gliosis and porencephalic cysts were presented in 3 (4.16%) patients in the case group and no patient in the control group. Cerebral and cerebellar atrophy was revealed in 8 (11.11%) patients in the case group and 4 (2.01%) patients in the control group. Corpus callosum agenesis, hydrocephalus, brain malacia, and developmental cyst were more frequent in the case group; however, the difference between the groups was not significant.ConclusionThe MRI findings such as hippocampal abnormalities, focal lesions (mass, dysplasia), NMD, porencephalic cysts, gliosis, and atrophy are significantly more frequent in children with intractable epilepsy than in those with drug-responsive epilepsy.

Emergency brain imaging findings in children with first afebril convulsion

Convulsion is the most common neurological disease seen in childhood and constitutes 4-10% of all neurological diseases and 2% of the admissions to child emergency rooms. While the primary purpose of performing emergency neuroimaging in a child presenting with the first afebrile convulsion is to investigate intracranial pathologies that may require urgent intervention. The cranial imaging to be performed for this purpose are transfontanellar ultrasonography, computed tomography, and magnetic resonance imaging. We aimed to evaluate the necessity, the contribution to diagnosis, and the effect of treatment of magnetic resonance imaging that was performed in the emergency rooms. Patients who were admitted to the pediatric emergency room for a one-year complaint of their first afebrile convulsion and performed brain magnetic resonance imaging in the pediatric emergency room within the first 24 hours of hospital admission were evaluated retrospectively. A statistically significant correlation was found between the abnormal magnetic resonance imaging and abnormal physical examination of the patients (p&lt;0.001). By the brain magnetic resonance imaging findings acute changes were made in the treatment of 7 cases (1.3%) There was no statistically significant relationship between the magnetic resonance imaging abnormality and emergency seizures. We determined that it would be more appropriate to perform magnetic resonance imaging in outpatient clinics in cases where transportation can be provided early, in cases above 6 years of age without risk factors, and have a normal examination. Nonetheless, higher magnetic resonance imaging rates lead to lower computed tomography rates and ıts beneficial for pediatric patients in limiting radiation and providing definitive structural imaging for seizures.