Search

Prompt medical attention is crucial for congenital intracranial vascular malformations in children and newborns due to potential severe outcomes. Imaging is pivotal for accurate identification, given the diverse risks and treatment strategies. This article aims to enhance the identification and understanding of congenital intracranial vascular abnormalities including arteriovenous malformation, arteriovenous fistula, cavernous malformation, capillary telangiectasia, developmental venous anomaly, and sinus pericranii in pediatric patients. [ABSTRACT FROM AUTHOR]

Purpose: This study explored the feasibility of utilizing a deep learning artificial intelligence (AI) model to detect ileocolic intussusception on grayscale ultrasound images. Methods: This retrospective observational study incorporated ultrasound images of children who underwent emergency ultrasonography for suspected ileocolic intussusception. After excluding video clips, Doppler images, and annotated images, 40,765 images from two tertiary hospitals were included (positive-to-negative ratio: hospital A, 2,775:35,373; hospital B, 140:2,477). Images from hospital A were split into a training set, a tuning set, and an internal test set (ITS) at a ratio of 7:1.5:1.5. Images from hospital B comprised an external test set (ETS). For each image indicating intussusception, two radiologists provided a bounding box as the ground-truth label. If intussusception was suspected in the input image, the model generated a bounding box with a confidence score (0-1) at the estimated lesion location. Average precision (AP) was used to evaluate overall model performance. The performance of practical thresholds for the model-generated confidence score, as determined from the ITS, was verified using the ETS. Results: The AP values for the ITS and ETS were 0.952 and 0.936, respectively. Two confidence thresholds, CTopt and CTprecision, were set at 0.557 and 0.790, respectively. For the ETS, the perimage precision and recall were 95.7% and 80.0% with CTopt, and 98.4% and 44.3% with CTprecision. For per-patient diagnosis, the sensitivity and specificity were 100.0% and 97.1% with CTopt, and 100.0% and 99.0% with CTprecision. The average number of false positives per patient was 0.04 with CTopt and 0.01 for CTprecision. Conclusion: The feasibility of using an AI model to diagnose ileocolic intussusception on ultrasonography was demonstrated. However, further study involving bias-free data is warranted for robust clinical validation. [ABSTRACT FROM AUTHOR]

Abusive head trauma (AHT) is the most common and serious form of child abuse and a leading cause of traumatic death in infants and young children. The biomechanics of head injuries include violent shaking, blunt impact, or a combination of both. Neuroimaging plays an important role in recognizing and distinguishing abusive injuries from lesions from accidental trauma or other causes, because clinical presentation and medical history are often nonspecific and ambiguous in this age group. Understanding common imaging features of AHT can increase recognition with high specificity for AHT. In this review, we discuss the biomechanics of AHT, imaging features of AHT, and other conditions that mimic AHT. [ABSTRACT FROM AUTHOR]

Ultrasonography is celebrating its 10th anniversary as an English-language journal and has gained recognition and citations within the academic community. The journal's inclusion in the Science Citation Index Expanded in 2019 led to an increase in citations. To further accelerate the dissemination of cutting-edge research, Ultrasonography will transition to a bimonthly publication schedule in 2024 and actively seek out more review articles. The journal will also incorporate graphic abstracts to enhance visibility and understanding of the content. Changes to the editorial board and peer review process are underway to improve the quality of published papers. Additionally, Ultrasonography will introduce article processing charges to address operational challenges and improve the journal's quality. The journal expresses gratitude to researchers, reviewers, and editors for their contributions and looks forward to continued advancement. [Extracted from the article]

Developmental dysplasia of the hip is a condition characterized by hip joint instability due to acetabular dysplasia in infancy, necessitating precise ultrasound examination. Legg-Calvé-Perthes disease is caused by a temporary disruption in blood flow to the femoral head during childhood, progressing through avascular, fragmentation, re-ossification, and residual stages. Slipped capital femoral epiphysis is a condition where the femoral head shifts medially along the epiphyseal line during adolescence due to stress, such as weight-bearing. Differentiating between transient hip synovitis and septic arthritis may require joint fluid aspiration. Osteomyelitis can be associated with soft tissue edema and osteolysis. When multiple lesions are present, it is essential to distinguish between Langerhans cell histiocytosis and metastatic neuroblastoma. This review will introduce imaging techniques and typical findings for these conditions. [ABSTRACT FROM AUTHOR]

Widespread use of fetal ultrasonography is accompanied by more frequent detection of antenatal hydronephrosis. Therefore, sonographic evaluation of neonates with a history of antenatal hydronephrosis is becoming more widespread. As an initial postnatal non-invasive imaging modality, ultrasonography is used to screen for persistence of hydronephrosis, determine the level and severity of obstruction, and contribute to appropriate diagnosis and treatment. This review aims to provide a practical overview of the sonographic evaluation of neonatal hydronephrosis and to describe the sonographic findings of conditions associated with hydronephrosis in the newborn. [ABSTRACT FROM AUTHOR]

Moyamoya disease is a unique cerebrovascular disorder characterized by idiopathic progressive stenosis at the terminal portion of the internal carotid artery (ICA) and fine vascular network. The aim of this review is to present the clinical application of quantitative digital subtraction angiography (QDSA) in pediatric moyamoya disease. Using conventional angiographic data and postprocessing software, QDSA provides time-contrast intensity curves and then displays the peak time (Tmax) and area under the curve (AUC). These parameters of QDSA can be used as surrogate markers for the hemodynamic evaluation of disease severity and quantification of postoperative neovascularization in moyamoya disease. [ABSTRACT FROM AUTHOR]

Intraoperative ultrasonography (IOUS) is a widely used noninvasive method to evaluate the morphology, vasculature, and pathologies of the brain. The advantages of IOUS include realtime depiction of neuroanatomy, accurate localization and characterization of a lesion, reduced surgical exploration and surgical time, and presumably decreased patient morbidity. IOUS is useful in the intraoperative monitoring of lesion resection as well as intraoperative localization and characterization of focal parenchymal lesions. This review aims to provide an overview of the clinical application of IOUS in pediatric intracranial neurosurgery. [ABSTRACT FROM AUTHOR]

Purpose: Hypothalamic damage may increase the risk of adulthood obesity and cardiovascular disease in patients with craniopharyngioma. We evaluated the effects of hypothalamic involvement (HI) and growth hormone (GH) discontinuation on cardiovascular risk factors during the transition period in patients with childhood-onset craniopharyngioma. Methods: Thirty-three patients (17 males, 16 females) underwent retesting for adult GH deficiency (GHD) between 2005 and 2020 at Seoul National University Children's Hospital. Postoperative HI was graded by Puget's criteria and data regarding GH replacement were collected. At retesting, body mass index (BMI), fasting blood glucose, insulin, high-density lipoprotein cholesterol (HDL-C), triglycerides, and blood pressure were assessed. Results: The mean age of commencement and discontinuation of GH replacement for childhood GHD was 10.0±3.6 and 15.3±3.1 years, respectively. The mean age at retesting for adult GHD was 17.7±2.5 years. When patients were categorized by post-GH discontinuation duration, those with durations >6 months (n=27) showed lower HDL-C levels than those with <6 months (P=0.037). Patients with extensive HI (n=16) had higher BMI z-scores than did those with no HI or mild HI (P=0.020). Both the extent of HI and longer post-GH discontinuation duration were significantly predictive for decreased HDL-C levels (P<0.05, for both). Conclusion: The extent of HI and GH discontinuation duration during the transition period can increase cardiovascular risks in patients with childhood-onset craniopharyngioma. [ABSTRACT FROM AUTHOR]

We report a case of isolated periostitis associated with Takayasu arteritis in a 10-year-old boy presenting with calf pain. Radiographs revealed a localized, thick periosteal reaction with irregular margin in the proximal left fibula. MRI revealed irregular thickening with enhancement of the periosteum in the proximal fibula and heterogeneous enhancement along vascular bundles in the calf. Isolated periostitis is a rare skeletal manifestation of systemic vasculitis that could be misdiagnosed as neoplastic or traumatic periosteal reaction. [ABSTRACT FROM AUTHOR]

Abstract Background  Optic gliomas may unpredictably stabilize or progress. Prognosis was known to be better in patients with neurofibromatosis 1 (NF1) than those with non-NF1. The confusion over management is caused, at least in part, by the uncertain disease course of the tumor. Case history  We report here a 13-year-old girl presented with a 1-month history of a gradual decline of vision in her left eye. She was diagnosed by clinical examination and magnetic resonance imaging as having a left optic-nerve glioma and was followed by serial magnetic resonance imaging over 3 years. She and her family did not show any stigmata of NF1. Approximately 3 years after the onset of her symptoms, visual acuity, color testing, and visual fields have markedly improved with tumor regression by magnetic resonance imaging. Conclusions  The possibility of spontaneous regression of an optic-nerve glioma should be considered even in the planning of treatment for a non-NF1 patient with this tumor. [ABSTRACT FROM AUTHOR]

Background: Nutcracker syndrome is characterized by gross haematuria caused by left renal vein (LRV) entrapment. Objective: To assess the role of LRV ultrasonography in the diagnosis of the nutcracker syndrome in children. Materials and methods: Twelve children (eight male, four female; mean age 12.8 years) with venographically confirmed nutcracker syndrome (LRV-IVC pressure gradient ≥3 mm Hg) underwent LRV sonography including Doppler spectral analysis ( n=7). The diameter and peak velocity (PV) were measured at two sites of the LRV (renal hilum and aortomesenteric portion). The US findings of nutcracker syndrome were compared with those of 20 control subjects using the t-test. We identified the optimal cut-off value of the US parameters for the diagnosis of the nutcracker syndrome using ROC analysis. Results: The PV at the aortomesenteric portion and the ratio of the PV between the two measured points showed significant differences between the two groups ( P<0.0001). The optimum cut-off values were found to be 4.7 for the PV ratio (sensitivity 100%, specificity 90%, accuracy 93%), and 93 cm/s for the PV at the aortomesenteric portion (sensitivity 100%, specificity 85%, accuracy 89%). Conclusion: LRV sonography, including Doppler spectral analysis, can demonstrate LRV entrapment haemodynamically. [ABSTRACT FROM AUTHOR]

We present two cases of granulocytic sarcoma of the cervical lymph nodes with central necrosis as an initial manifestation of childhood leukaemia, focusing on the imaging features. Recognition of the CT and MR imaging findings of granulocytic sarcoma involving the cervical lymph nodes assists the differential diagnosis of noninfective lymphadenopathy in children. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study was to evaluate the usefulness of the stability index (SI) in liver stiffness measurements using shear wave elastography (SWE) in children. Methods: A total of 29 children and young adults (mean age, 16.1 years; range, 8 to 28 years; 11 boys and 18 girls) who underwent liver stiffness measurements using SWE under freebreathing and breath-holding conditions were included in our study. Ten SWE measurements were acquired in each of four groups: free-breathing and breath-holding, and with and without using the SI. The failure rate of acquisition of SI values over 90% was calculated in each group. To evaluate variability in the SWE measurements, the standard deviation, coefficient of variation, and percentage of unreliable measurements were compared. Intraobserver agreement and the optimal minimal number of measurements were calculated using intraclass correlation coefficients. Results: A failure to acquire SI values over 90% was observed in 17% of the scans in the freebreathing group and in 7% of the scans in the breath-holding group. In both groups, utilizing the SI led to a significantly lower standard deviation and coefficient of variation. When using the SI, the percentage of unreliable measurements decreased from 16.7% to 8.3% in the free-breathing group and 14.8% to 0% in the breath-holding group. With the use of the SI, intraobserver agreement increased and the optimal minimal number of repeated measurements decreased in both the free-breathing and breath-holding groups. Conclusion: Utilization of the SI in the measurement of liver SWE in children reduced measurement variability and increased reliability in both free-breathing and breath-holding conditions. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study was to identify ultrasonographic features that can be used to differentiate between thyroglossal duct cysts (TGDCs) and dermoid cysts (DCs). Methods: We searched surgical pathology reports completed between January 2004 and October 2015 and identified 66 patients with TGDCs or DCs who had undergone preoperative ultrasonography. The ultrasound images were reviewed by two radiologists who were blinded to the pathological diagnosis. They evaluated the following parameters: dimensions, shape, margin, location in relation to the midline, level in relation to the hyoid bone, attachment to the hyoid bone, the depth of the lesion in relation to the strap muscles, internal echogenicity, internal echogenic dots, multilocularity, the presence of a longitudinal extension into the tongue base, posterior acoustic enhancement, the presence of internal septae, and intralesional vascularity. Results: There were 50 TGDCs and 16 DCs. TGDCs were significantly more likely than DCs to have an irregular shape, an ill-defined margin, attachment to the hyoid bone, an intramuscular location, heterogeneous internal echogenicity, multilocularity, and longitudinal extension into the tongue base. Conclusion: Ultrasound findings may inform the differential diagnosis between TGDCs and DCs. [ABSTRACT FROM AUTHOR]

Purpose: This study aimed to evaluate the usefulness of two-dimensional shear wave elastography (2D-SWE) in diagnosing hepatic veno-occlusive disease (VOD) in pediatric patients. Methods: This study retrospectively included pediatric patients who underwent hematopoietic stem cell transplantation (HSCT) between November 2019 and January 2021. All 34 patients (8.7±5.0 years) were examined using 2D-SWE for an initial diagnosis. A subgroup analysis was performed using the data from follow-up examinations of patients diagnosed with VOD. The characteristics of the initial VOD diagnosis were compared with the longitudinal changes observed in VOD patients who underwent multiple ultrasound examinations. Results: In total, 19 patients were diagnosed with VOD at 17.6±9.4 days after HSCT. All VOD patients showed hepatomegaly, ascites, and gallbladder wall thickening. Liver stiffness was higher in VOD patients than in non-VOD patients (12.4±1.1 vs. 6.3±0.8 kPa, P<0.001). Liver stiffness values above 7.2 kPa showed 84.2% sensitivity and 93.3% specificity in distinguishing VOD from non-VOD (area under the curve, 0.925; 95% confidence interval, 0.780 to 0.987; P<0.001). A subgroup analysis of 11 patients showed a linear decrease in liver stiffness values after VOD diagnosis with treatment (first, second, and third follow-ups; 13.5±1.7, 11.3±1.4, and 9.5±0.8 kPa, respectively), but without statistical significance in the pairwise analysis. Conclusion: Liver stiffness measured using 2D-SWE increased in pediatric patients who develop VOD after HSCT. Therefore, liver stiffness can be a predictive and quantitative parameter for diagnosing VOD. [ABSTRACT FROM AUTHOR]

A correction to the article about magnetic resonance (MR) and computed tomography (CT) features describing central skull base lymphoma in children that was published in the 2008 issue is presented.

Purpose: This study aimed to assess the feasibility of shear-wave elastography (SWE) for assessing the testicular involvement of hematologic malignancies in children and young adults. Methods: Eight patients (mean age, 11.0 years; range, 0.8 to 20 years) with biopsy-confirmed testicular involvement of hematologic malignancy between January 2018 and December 2020 were retrospectively evaluated. Multiparametric ultrasound examinations, including grayscale, color Doppler ultrasonography (CDUS), and SWE, were performed. Stiffness was measured in the involved testicular area and contralateral normal parenchyma. If there was bilateral testicular involvement, the stiffness of the involved area and the adjacent normal echoic parenchyma was measured on one testis. The Mann-Whitney U test was used to compare stiffness values. Results: On grayscale, the testicular lesions were noted as a solitary mass in one patient, multiple lesions in four patients, and diffuse involvement in three patients. On CDUS and SWE, all patients demonstrated increased vascularity, and the stiffness of the involved area was higher than the values of normal parenchyma (the involved area vs. normal parenchyma, 11.6 kPa [3.9-20.2 kPa] vs. 2.9 kPa [1.1-3.7 kPa], P=0.003). The ratio of stiffness between the involved area and normal parenchyma was 3.4, ranging from 1.9 to 5.1. One patient showed decreased stiffness on follow-up SWE after treatment (affected testis vs. normal testis: initial, 13.8 vs. 3.2 kPa; 1 year later, 2.2 vs. 2.4 kPa). Conclusion: Increased testicular stiffness on SWE in children and young adults with hematologic malignancies suggests the possibility of testicular involvement. [ABSTRACT FROM AUTHOR]

Congenital esophageal stenosis (CES) can be associated with esophageal atresia/tracheoesophageal fistula (EA/TEF). Because there are a variety of degrees of obstruction and symptoms of CES, it is frequently difficult to make a pre- and post-operative diagnosis of the distal CES associated with EA/TEF. To evaluate the clinical and radiologic features of congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula. We retrospectively reviewed postoperative esophagograms and medical records of 187 children (107 boys, 80 girls) who had primary repair of EA/TEF from 1992 to 2009 at our institution. We evaluated the incidence of CES, clinical findings, radiologic features and management of CES in these children. CES was diagnosed in 22 of 187 EA/TEF children (12%); one child had double CES lesions, for a total of 23 lesions. Ten of those 22 children (45%) had presented with significant symptoms of esophageal obstruction. The diagnosis of CES was delayed in 10 children (45%) until 1–10 years of age. On esophagogram, CES ( n = 23) was located in the distal esophagus ( n = 20, 87%) or mid-esophagus ( n = 3, 13%). The degree of stenosis was severe ( n = 6, 26%), moderate ( n = 10, 43%), or mild ( n = 7, 30%). Eight children, including two with unsuccessful esophageal balloon dilatation of CES, were treated surgically. Histologic examination revealed tracheobronchial remnant ( n = 7) or fibromuscular hyperplasia ( n = 1). One child with surgically treated CES developed achalasia at the age of 3 years 9 months. Esophagography after EA/TEF repair should be performed with a high index of suspicion for the presence of distal CES, because the diagnosis and adequate management of CES can often be delayed. [ABSTRACT FROM AUTHOR]

Patients with complex congenital heart defects palliated by connecting the systemic veins directly to the pulmonary circulation are known to develop hepatopulmonary syndrome (HPS). Although rare, HPS can develop following the Fontan operation. To present and analyse the CT findings of HPS in patients with a Fontan circulation. From May to December 2005, six patients with HPS following the completion of a Fontan circulation were evaluated. CT findings were reviewed and were compared with angiographic findings. All six patients showed unilateral involvement. All patients except one had inferior vena cava (IVC) interruption with azygos continuation. CT scans showed abnormal vascular dilatation in one lung, and properly demonstrated the anatomy causing the hepatic venous blood to flow preferentially into one lung. These CT findings correlated well with the angiography findings. HPS that develops after the Fontan procedure is typically unilateral and is often associated with IVC interruption and azygos or hemiazygos continuation. CT demonstrates dilatation of pulmonary vessels in the affected lung and may be able to demonstrate the underlying anatomical cause for the predilection of hepatic venous flow to the contralateral lung. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study was to use shear-wave elastography (SWE) to assess testicular stiffness changes during the Valsalva maneuver in adolescents and young adults with varicocele, to compare these changes according to clinical severity, and to evaluate the role of SWE in the diagnosis of varicocele. Methods: This study included patients undergoing testicular ultrasonography for the diagnosis of varicocele or for post-varicocelectomy follow-up between June 2016 and February 2017. Fifty- four testicles of 27 consecutive patients (mean age, 15.9 years) were classified by clinical grade (grade 0-3). Using SWE, mean testicular stiffness (Emean) was measured at rest and during the Valsalva maneuver. The correlations between multiple ultrasonographic parameters (volume asymmetry, Emean at rest, and absolute and percentage changes in Emean during the Valsalva maneuver) and clinical grade were assessed using the Spearman correlation test. Results: The Emean at rest was similar across clinical grades. During the Valsalva maneuver, increased testicular stiffness was frequently observed in patients with grade 2 or 3 varicocele but rarely observed in those with grade 0 or 1 varicocele. The changes in Emean were positively correlated with the clinical grade (all P<0.001), whereas the Emean at rest and volume asymmetry were not (all P>0.05). Conclusion: A transient, reversible increase in testicular stiffness during the Valsalva maneuver was observed in adolescents with high-grade varicocele, and the degree of stiffness change was correlated with the clinical grade. Stiffness change identified using SWE during the Valsalva maneuver is a potential surrogate indicator of venous congestion. [ABSTRACT FROM AUTHOR]

Purpose: This study evaluated the diagnostic performance of contrast-enhanced voiding urosonography (ce-VUS) using a second-generation ultrasound contrast agent for the diagnosis of vesicoureteral reflux (VUR) and intrarenal reflux (IRR), and compared it with that of standard fluoroscopic voiding cystourethrography (VCUG). Methods: Thirty-two consecutive children from April to October 2019 were included in this study. ce-VUS and VCUG were performed simultaneously by two operators with intravesical infusion of a mixture of ultrasound contrast medium, iodinated contrast medium and water. Two pediatric radiologists independently reviewed the ce-VUS and VCUG images and reported the presence and degree of VUR (grades I-V), and the presence and type of IRR. Results: Twenty-seven of 63 urinary systems showed VUR. Interobserver agreement for VUR grading was very good for both examinations (κ =0.87; 95% confidence interval [CI], 0.82 to 0.92 for ce-VUS and κ =0.92; 95% CI, 0.87 to 0.96 for VCUG). The detection rate of VUR showed no significant difference between the two examinations (P=0.370). Four cases of VUR were missed on ce-VUS, while one case of VUR was missed on VCUG. All four false-negative cases on ce-VUS were grade 1 VUR. The two examinations showed very good agreement regarding VUR grading (κ =0.89; 95% CI, 0.81 to 0.96). IRR was more frequently detected with ce-VUS than with VCUG (10 cases with ce-VUS vs. 3 cases with VCUG, P=0.016). Conclusion: ce-VUS showed very good agreement with VCUG for detecting grade 2 VUR and above, while grade 1 VUR was sometimes missed with ce-VUS. IRR was more frequently detected with ce-VUS than with VCUG. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study was to evaluate impact of 3-dimensional cranial ultrasonography (3DUS) on reinterpretation of cranial ultrasonography images in neonates in comparison with 2-dimensional cranial ultrasonography (2DUS). Methods: We retrospectively enrolled 50 young infants who simultaneously underwent both 2DUS and 3DUS scanning from February to March 2015. Two pediatric radiologists independently reviewed both scans for overall image quality on a 5-point scale. Five features were evaluated in both scans: the presence of germinal matrix hemorrhage (GMH), intraventricular hemorrhage (IVH), ventriculomegaly (VM), abnormality of periventricular echogenicity (PVE), and focal parenchymal lesions (FL). The concordance rate between the two scanning modes was calculated. The confidence level for each finding on a 3-point scale and the scanning time were compared between the two scanning modes. Interobserver agreement was evaluated using kappa statistics. Results: Both scans demonstrated similar overall image quality in terms of reinterpretation (mean scores for 2DUS and 3DUS, 4.0±0.5 and 4.0±0.7 in reviewer 1, 3.9±0.6 and 4.0±0.8 in reviewer 2, respectively). GMH, IVH, VM, and FL showed perfect concordance, while PVE showed a concordance rate of 91.4% between the two modes by both reviewers. 3DUS was associated with a higher diagnostic confidence in the evaluation of GMH, IVH, and FL than 2DUS (P<0.05) for both reviewers. For PVE, 3DUS received a significantly higher confidence score than 2DUS from one of the reviewers. The mean scanning time for 2DUS and 3DUS was 92.75 seconds and 36 seconds, respectively. Interobserver agreement for qualitative scoring was almost perfect. Conclusion: In reinterpretation, 3DUS showed very high concordance with 2DUS and a similar image quality. 3DUS also increased diagnostic confidence for several image findings and significantly decreased scan time. [ABSTRACT FROM AUTHOR]

Hemophagocytic lymphohistiocytosis (HLH) is characterized by fever, splenomegaly, jaundice, and pathologic findings of hemophagocytosis in bone marrow or other tissues such as the lymph nodes and liver. Pleocytosis, or the presence of elevated protein levels in cerebrospinal fluid, could be helpful in diagnosing HLH. However, the pathologic diagnosis of the brain is not included in the diagnostic criteria for this condition. In the present report, we describe the case of a patient diagnosed with HLH, in whom the brain pathology, but not the bone marrow pathology, showed hemophagocytosis. As the diagnosis of HLH is difficult in many cases, a high level of suspicion is required. Moreover, the pathologic diagnosis of organs other than the bone marrow, liver, and lymph nodes may be a useful alternative. [ABSTRACT FROM AUTHOR]

Background: To compare the clinical and radiological features of intra-/juxta-articular osteoid osteoma and extra-articular osteoid osteoma in skeletally immature patients, paying special attention to the skeletal complications. Methods: Osteoid osteoma in 34 children (22 boys and 12 girls, mean age 10.4 years) was dichotomized according to the location of the nidus as intra-/juxta-articular (11 children) or extra-articular (23 children). The following features were compared: diagnostic delay, typical symptoms, synovitis and limited range of joint motion, response to treatment, typical radiographic findings, and skeletal complications. Results: Eight of the 11 children with intra-/juxta-articular osteoid osteoma presented with synovitis in the involved joint, which led to a delayed diagnosis for a median 9.5 months. Pain disappeared in all children with surgical or medical interventions, but at the mean 4.9-year follow-up evaluation, skeletal abnormalities around the joint were noted in 5 children (4 proximal femur and 1 distal humerus) with intra-/juxta-articular osteoid osteoma, 2 of whom required subsequent surgeries for limited hip motion caused by femoroacetabular impingement and limited range of elbow motion, respectively. In contrast, typical clinical and radiological features were observed more often in extra-articular osteoid osteoma, and only 1 child showed overgrowth of the tibia, which did not have clinical significance. Conclusions: Intra-/juxta-articular osteoid osteomas in growing children exhibit different clinical and radiological features from extra-articular lesions. Skeletal abnormalities mainly develop in intra-/juxta-articular osteoid osteoma, and these may lead to permanent skeletal sequelae. [ABSTRACT FROM AUTHOR]

Background To compare the clinical and radiological features of intra-/juxta-articular osteoid osteoma and extra-articular osteoid osteoma in skeletally immature patients, paying special attention to the skeletal complications. Methods Osteoid osteoma in 34 children (22 boys and 12 girls, mean age 10.4 years) was dichotomized according to the location of the nidus as intra-/juxta-articular (11 children) or extra-articular (23 children). The following features were compared: diagnostic delay, typical symptoms, synovitis and limited range of joint motion, response to treatment, typical radiographic findings, and skeletal complications. Results Eight of the 11 children with intra-/juxta-articular osteoid osteoma presented with synovitis in the involved joint, which led to a delayed diagnosis for a median 9.5 months. Pain disappeared in all children with surgical or medical interventions, but at the mean 4.9-year follow-up evaluation, skeletal abnormalities around the joint were noted in 5 children (4 proximal femur and 1 distal humerus) with intra-/juxta-articular osteoid osteoma, 2 of whom required subsequent surgeries for limited hip motion caused by femoroacetabular impingement and limited range of elbow motion, respectively. In contrast, typical clinical and radiological features were observed more often in extra-articular osteoid osteoma, and only 1 child showed overgrowth of the tibia, which did not have clinical significance. Conclusions Intra-/juxta-articular osteoid osteomas in growing children exhibit different clinical and radiological features from extra-articular lesions. Skeletal abnormalities mainly develop in intra-/juxta-articular osteoid osteoma, and these may lead to permanent skeletal sequelae. [ABSTRACT FROM AUTHOR]

Background: Mycobacterial osteomyelitis involving only the epiphysis of a long bone is extremely rare, and its clinical and radiographic features remain unclear. The purpose of this study was to characterize mycobacterial epiphyseal osteomyelitis and to identify differences between its features and those reported for epiphyseal osteomyelitis caused by bacteria or unidentified pathogens. Methods: We retrospectively reviewed the cases of eight children (five males and three females) who presented at a median age of nineteen months (range, twelve to twenty-five months). Clinical findings were compiled. Radiographs and magnetic resonance imaging (MRI) were used to determine local spread of the abscess outside the epiphysis during the disease course. At the time of the latest follow-up evaluation, the presence of limited joint mobility or growth disturbance was determined. Physeal damage was evaluated with use of MRI. Results: Pathogens were identified through multiplex polymerase chain reaction. Mycobacterium bovis bacille Calmette- Guérin (BCG, Tokyo-172 strain) was identified in four patients; Mycobacterium tuberculosis, in three patients; and nontuberculous mycobacterium, in one patient. The lesion was located at the distal femoral epiphysis in six patients, at the proximal tibial epiphysis in one patient, and at the proximal humeral epiphysis in one patient. The abscess was confined to the epiphysis at the time of initial presentation but, over time, extended outside the epiphysis in seven cases. The lesion was initially located in the cartilaginous epiphysis in two patients, which could be diagnosed only on MRI. Seven patients worsened despite surgical drainage and medication, and five required additional surgery. At follow-up at a mean of 4.1 years (range, 1.3 to 7.8 years), focal physeal damage was evident in five patients, and clinical growth disturbance was evident in one patient. Conclusions: In contrast to the reported benign features of epiphyseal osteomyelitis caused by bacteria or unidentified pathogens, mycobacterial epiphyseal osteomyelitis seems to have an unfavorable clinical course that tends to lead to physeal damage. MRI is useful for early diagnosis of a cartilaginous lesion and evaluation of abscess spread and physeal damage. [ABSTRACT FROM AUTHOR]

Many females who are heterozygous for ornithine carbamoyltransferase (OTC) deficiency are asymptomatic or intermittently symptomatic with great phenotypic variability. Therefore, the diagnosis of this condition is occasionally a challenge and is often delayed. A 12-year-old girl who was initially diagnosed as having attention deficit-hyperactivity disorder (ADHD) became comatose and developed right-sided hemiparesis during her psychiatric admission. Brain magnetic resonance imaging indicated diffuse but extensive swelling in the left hemisphere with multiple lesions suggestive of an old infarction. Repeated evaluations revealed hyperammonemia and orotic aciduria, and she was diagnosed as having an OTC deficiency. Genetic analysis revealed a heterozygous mutation of N47I in the X-linked OTC gene. Her mental status and hemiparesis improved after hyperammonemia treatment. Here, we report a rare case of a manifestating female carrier with severe symptoms of OTC deficiency masquerading as ADHD. [ABSTRACT FROM AUTHOR]

Synovium is the thin membranous lining of a joint. It produces synovial fluid, which lubricates and nourishes the cartilage and bone in the joint capsule. Synovial diseases in children can be classified as normal structures as potential sources of pathology (synovial folds: plicae, infrapatellar fat pad clefts), noninfectious synovial proliferation (juvenile idiopathic arthritis, hemophilic arthropathy, lipoma arborescens, synovial osteochondromatosis, pigmented villonodular synovitis, reactive synovitis), infectious synovial proliferation (pyogenic arthritis, tuberculous arthritis), deposition disease (gouty arthropathy), vascular malformation, malignancy (metastasis) and intra-/periarticular cysts and cyst-like structures. Other intra-articular neoplasms, such as intra-articular synovial sarcoma, can mimic synovial disease in children. [ABSTRACT FROM AUTHOR]

Synovial diseases in children can be classified into normal structures as potential sources of pathology (synovial folds: plicae, infrapatellar fat pad clefts); noninfectious synovial proliferation (juvenile idiopathic arthritis, hemophilic arthropathy, lipoma arborescens, synovial osteochondromatosis, pigmented villonodular synovitis, reactive synovitis), and infectious synovial proliferation, deposition disease, vascular malformations, malignancy (including metastasis) and intra-articular/periarticular cysts and cyst-like structures (ganglia). Familiarity with characteristic MR imaging findings of synovial diseases in children and young adults will enable a more confident diagnosis for earlier intervention and directed therapy. The first part of this paper will cover potential pathology of normal synovial structures as well as noninfectious synovial proliferation. [ABSTRACT FROM AUTHOR]

Background and Objective: Our objective was to characterize the clinical and radiologic features of Korean pediatric patients with relapsing central nervous system (CNS) demyelination disease.Methods: Twenty-one patients with relapsing CNS demyelinating events were classified as having multiple sclerosis (MS, 18 patients) or neuromyelitis optica (NMO, three patients) according to the international consensus definitions. Retrospective analysis of clinical and radiologic features was conducted. Anti-aquaporin-4 antibody (AQP4 Ab) test was performed in six patients (including three NMO patients) who showed selective involvement of optic nerve and spinal cord.Results: Median age at the initial episode in patients with MS was 7.0 years (range, 4.4—13.6 years). Three of 18 MS patients (3/18, 17%) showed selective involvement of the optic nerve and spinal cord during the clinical course. Five patients (31%) at the initial episode and nine patients (50%) at relapse met the McDonald magnetic resonance imaging criteria for dissemination in space. Oligoclonal bands detected with a silver staining method were positive in only one patient of 16 patients tested. Two NMO patients positive for AQP4 Ab showed frequent relapses and early disabilities that were unresponsive to interferon treatment.Conclusions: We conclude that Korean pediatric patients with relapsing CNS demyelination disease were characterized by preferential involvement of the optic nerve or spinal cord. The AQP4 Ab test seems to be useful for predicting clinical courses in the setting of heterogeneous opticospinal presentations. [ABSTRACT FROM AUTHOR]

Background: Nonalcoholic fatty liver disease (NAFLD) is becoming more frequently diagnosed as the prevalence of obesity in children increases rapidly.Aim: The aim of this study was to investigate the correlation of clinical findings with histopathologic features in children with NAFLD.Methods: We reviewed the clinical data and liver histology results of children with biopsy-proven NAFLD at Seoul National University Hospital. NAFLD was classified as simple steatosis, type 1 nonalcoholic steatohepatitis (NASH), characterized by ballooning degeneration and perisinusoidal fibrosis, or type 2 NASH, characterized by portal inflammation and portal fibrosis.Results: Among 80 total patients, 84% were male. All patients were obese or overweight. Insulin resistance was present in 96% of children. Perisinusoidal fibrosis was noted in 45% of children and portal fibrosis was noted in 77%. Simple steatosis was present in 22% of children, type 1 NASH in 34%, and type 2 NASH in 44%. No differences were found among NAFLD subtypes or NAFLD activity score with regard to sex, blood pressure, or levels of aminotransferase, fasting lipid, or insulin. Children with NASH were older and had higher body mass index than those with simple steatosis. Patients with type 2 NASH had higher body mass index and advanced fibrosis compared with patients with type 1 NASH.Conclusions: Obesity and older age are associated with development of NASH. Type 2 NASH is the most common form and associated with a greater severity of obesity and advanced fibrosis. [ABSTRACT FROM AUTHOR]

An increasing number of reports on mitochondrial DNA coding regions' mutations, especially in mitochondrial DNA-encoded NADH dehydrogenase (ND) subunit genes of the respiratory chain complex I, have been published recently, making it possible to improve the molecular diagnosis of many mitochondrial diseases in children with variable clinical features. This article describes 2 mitochondrial DNA mutations in the ND3 and ND5 genes in patients showing clinical features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)/Leigh syndrome overlap syndrome and atypical Leigh syndrome. These cases add to the increasing number of reports stating that mitochondrial DNA-encoded protein-coding regions are mutation hot spots in pediatric patients with encephalopathies with variable clinical spectra. [ABSTRACT FROM AUTHOR]

Presents a case of patients with acute symptomatic spinal epidural cerebrospinal fluid leakage after a diagnostic lumbar puncture who lacked these risk factors. Case histories; Complications of lumbar punctures; Mechanism of postlumbar puncture syndrome; Coagulation test results; Relation of the risk of postdural puncture headache to the diameter of the needle used.