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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 P0.05).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.

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.

Background Cerebral arteriovenous malformation (AVM) can rarely occur in conjunction with moyamoya disease (MMD). There is still no consensus on how to treat AVM when accompanied by MMD. In this study, we assessed the clinical features and suggested appropriate management when AVM was combined with MMD. Methods From August 1994 to December 2020, 7 out of 4004 patients with MMD were found to have AVM. The Karnofsky Performance Scale (KPS) was used to evaluate the clinical outcomes of AVM and MMD. KPS greater than 80 was classified as a good outcome. In addition, the radiologic outcomes of the patients were evaluated. Results The incidence of AVM with MMD was 1.7 per 1000 persons. Five patients underwent bypass surgery for MMD, and 5 patients underwent Gamma Knife surgery (GKS) for concurrent AVM. Postoperative perfusion magnetic resonance imaging and brain single photon emission computerized tomography showed improved cerebral hemodynamics in 4 out of 7 territories. Postoperative cerebral angiography showed good revascularization in 4 out of 8 territories. After GKS, 4 patients showed complete obliteration, and 1 patient showed a significantly decreased AVM size. Six patients showed favorable clinical outcomes (KPS 80–100), and 1 patient with delayed GKS for AVM had a poor outcome (KPS 20) due to AVM rupture. Conclusions In this study, AVM tended to occur where the angiographic stage of MMD was higher. When AVM is combined with MMD, MMD bypass surgery is recommended based on symptoms and cerebral perfusion status. For AVM, less invasive but effective treatments, such as GKS, should be implemented as soon as possible.

Background Pediatric patients with liver disease require noninvasive monitoring to evaluate the risk of fibrosis progression. This study aimed to identify the significant factors affecting liver stiffness values using two-dimensional shear-wave elastography (2D-SWE), and determine whether liver stiffness can predict the fibrosis stage of various childhood liver diseases. Methods This study included 30 children (22 boys and 8 girls; mean age, 5.1 ± 6.1 years; range, 7 days–17.9 years) who had undergone biochemical evaluation, 2D-SWE examination, histopathologic analysis of fibrosis grade (F0 to F3), assessment of necroinflammatory activity, and steatosis grading between August 2016 and March 2020. The liver stiffness from 2D-SWE was compared between fibrosis stages using Kruskal–Wallis analysis. Factors that significantly affected liver stiffness were evaluated using univariate and multivariate linear regression analyses. The diagnostic performance was determined from the area under the receiver operating curve (AUC) values of 2D-SWE liver stiffness. Results Liver stiffness at the F0-1, F2, and F3 stages were 7.9, 13.2, and 21.7 kPa, respectively (P P P = 0.021, respectively). However, in patients with alanine aminotransferase (ALT) levels below 200 IU/L, the only factor affecting liver stiffness was fibrosis stage (P = 0.030). The liver stiffness value could distinguish significant fibrosis (≥ F2) with an AUC of 0.950 (cutoff value, 11.3 kPa) and severe fibrosis (F3 stage) with an AUC of 0.924 (cutoff value, 18.1 kPa). The 2D-SWE values for differentiating significant fibrosis were 10.5 kPa (≥ F2) and 18.1 kPa (F3) in patients with ALT levels below 200 IU/L. Conclusion The liver stiffness values on 2D-SWE can be affected by both fibrosis and necroinflammatory grade and can provide excellent diagnostic performance in evaluating the fibrosis stage in various pediatric liver diseases. However, clinicians should be mindful of potential confounders, such as necroinflammatory activity or transaminase level, when performing 2D-SWE measurements for liver fibrosis staging.

Juvenile xanthogranuloma (JXG) is a type of non-Langerhans cell histiocytosis that most commonly manifests as a solitary cutaneous lesion of the head and neck in children. Intracranial JXG is extremely rare. Although it is widely known that JXG skin lesions gradually disappear over time without treatment, treatment guidelines for intracranial JXG have not been established. It is very difficult to predict whether an intracranial lesion is JXG with only a pre-operative imaging work-up without pathologic confirmation. We report a case of the youngest, a 3-month-old male infant with an intracranial extra-axial mass with rapid growth for 2 months. Additionally, we suggest characteristic MRI findings for intracranial extra-axial JXG of a low T2 signal and a kidney bean shape.

Imatinib is a BCR-ABL tyrosine kinase inhibitor used for the treatment of a variety of diseases including Philadelphia chromosome positive (Ph+) leukemia. We report a 15 year old male patient presenting with symptomatic acute intracerebral hemorrhage (ICH) in midbrain while on imatinib more than three years after completion of therapy for Ph + B-ALL. The patient denied recent trauma history and consumption of other medication. Laboratory findings did not show any signs of relapse, coagulopathy nor thrombocytopenia. Under the impression of imatinib related ICH, imatinib was discontinued and with conservative management the patient recovered without neurologic sequalae. This case demonstrates the first pediatric case of spontaneous ICH as a rare complication of imatinib.

Background Several studies have suggested that adverse neurodevelopment could be induced by systemic inflammation in preterm infants. We aimed to investigate whether preterm infants with systemic inflammation would have impaired neurodevelopment and which biomarkers and neurophysiologic studies during inflammation are associated with poor neurodevelopment. Methods This prospective cohort study enrolled infants born before 30 weeks of gestation or with birth weight n = 49), I (systemic inflammation, n = 45). Blood and cerebrospinal fluid samples for markers of brain injury and inflammation were collected and amplitude-integrated electroencephalography (aEEG) was performed within 4 h of septic workup. We evaluated aEEG at 35 weeks postmenstrual age (PMA), head circumference at 36 weeks PMA, and brain MRI at discharge. The Bayley Scales of Infant and Toddler Development III (Bayley-III) was performed at a corrected age (CA) of 18 months. Results The I group had more white matter injuries (2 vs. 26.7%, Control vs. I, respectively) at the time of discharge, lower brain functional maturation (9.5 vs. 8), and smaller head size (z-score − 1.45 vs. -2.12) at near-term age and poorer neurodevelopment at a CA of 18 months than the control (p p Conclusions Systemic inflammation induced by clinical infection and NEC are associated with neurodevelopmental impairment in preterm infants. The seizure spike on aEEG, elevated I/T ratio, CRP, and plasma TNF-alpha during inflammatory episodes are associated with poor neurodevelopment.

A cerebral arteriovenous malformation (AVM) is a congenital and static disease. However, there are increasing reports of acquired AVMs. The pathophysiology of an acquired AVM has not been fully elucidated but the suggested pathophysiology is a combination of genetic abnormalities and inflammatory cytokines caused by previous brain insults. We report a patient who developed an acquired AVM after the treatment for a brain abscess. She underwent Gamma Knife surgery to treat the acquired AVM. It is necessary to understand the characteristics of acquired AVMs and to further research acquired AVMs.

Patients with craniopharyngioma are susceptible to autonomic dysfunction as a result of hypothalamic damage. We evaluated indices of heart rate variability (HRV) in patients with childhood-onset craniopharyngioma to investigate autonomic function and its relationship with components of the metabolic syndrome (MetS). This cross-sectional, case-only study included 53 patients (10–30 years of age). We measured the standard deviation of all normal R-R intervals (SDNN) and total power indicating overall HRV, the root-mean square of the difference of successive R-R intervals (RMSSD) and high frequency indicating parasympathetic modulation, and low frequency. These indices were compared according to the presence of the MetS. During the mean 10.8 years of follow-up, 25% of patients were diagnosed with the MetS. Patients with the MetS showed significantly lower levels of SDNN (29.0 vs. 40.6 ms), total power (416.1 vs. 1129.6 ms2), RMSSD (20.1 vs. 34.5 ms), high frequency (94.7 vs. 338.5 ms2), and low frequency (94.5 vs. 289.4 ms2) than those without (p

To evaluate the clinical usefulness of dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) in children and young adults with Crohn’s disease. From August 2017 to October 2018, 30 patients with Crohn’s disease (21 males and 9 females; mean age 15.1 ± 2.5 years) underwent DCE-MRI with MRI enterography. We assessed the endoscopic finding, pediatric Crohn’s disease activity index (PCDAI), C-reactive protein (CRP) level (mg/dL), Crohn’s disease MR index (CDMI) score, and the perfusion parameters of DCE-MRI (Ktrans, Kep, and Ve) at the ileocecal region between the inactive and active groups based on the histopathologic status. The active Crohn’s disease group showed higher PCDAI, CRP, and CDMI scores than the inactive group (22.2 ± 18.8 vs. 6.3 ± 6.4, p = 0.027; 1.32 ± 1.79 vs. 0.10 ± 0.13, p = 0.005; 7.4 ± 3.9 vs. 4.5 ± 3.0, p = 0.047, respectively). The active Crohn’s disease group showed a higher Ktrans value than the inactive group (0.31 ± 0.12 vs. 0.16 ± 0.46 min−1, p = 0.002). Endoscopic finding; PCDAI, CRP, and CDMI scores; and Ktrans value were significant parameters in the identification of the active Crohn’s disease (p = 0.002, p

Objectives The diagnostic role of an ultrasound (US) and plasma renin activity (PRA) combination is unknown, despite the usefulness of Doppler US as a screening tool for renovascular hypertension (RVHT). The purpose of this study was to evaluate the diagnostic usefulness of US for RVHT in children stratified according to PRA. Methods We identified 336 children who underwent renal Doppler US examinations for hypertension and divided them into a high-renin group (n = 177) and a normal-renin group (n = 159) based on PRA and stratified them by age. The Doppler US findings were retrospectively reviewed, and computed tomographic angiography (CTA) for the same children was used as the reference standard. Results In the high-renin group, 36 patients had positive Doppler US findings that were confirmed by CTA in 32 cases. The sensitivity and specificity values for Doppler US in the high-renin group were 84.2% and 93.6%, respectively. In the normal-renin group, 10 patients had positive Doppler US findings; these positive findings were confirmed by CTA in 9 cases. The sensitivity and specificity values for US in the normal-renin group were 100.0% and 100.0%. There were anatomic variations (n = 3) and segmental artery stenosis (n = 2) among the cases with false-negative US findings, which were confirmed by CTA. Conclusions If patients have high PRA, a Doppler US examination should be performed with caution to avoid false-negative detection. If patients have normal PRA, renal Doppler US might be adequate for diagnosis of RVHT to avoid unnecessary CTA.

Background: The guideline for managing pediatric thyroid nodules has not been established. We investigated the appropriateness of the Korean Society of Thyroid Radiology (KSThR) guidelines and the ...

Objective To describe the anatomic locations and imaging features of posterior lung herniation in unilateral pulmonary agenesis and aplasia, focusing on radiograph-CT/MRI correlation. Materials and methods A total of 10 patients (seven with pulmonary agenesis and three with pulmonary aplasia, male: female = 1:9, mean age 7.3 years, age range from 1 month to 20 years) were included. Chest radiographs (n = 9), CT (n = 9), and MRI (n = 1) were reviewed to assess the type of lung underdevelopment, presence of anterior and posterior lung herniation, bronchus origin, supplying artery, and draining vein of the herniated lung. Results Pulmonary agenesis/aplasia more commonly affected the left lung (n = 7) than the right lung (n = 3). Anterior lung herniation was observed in nine of the 10 patients. Posterior lung herniation was observed in seven patients with left pulmonary agenesis/aplasia. Two patients showed posterior lung herniation crossing the midline but not beyond the aorta, and five patients showed the posteriorly herniated right lower lobe crossing the midline to extend into the left hemithorax farther beyond the descending thoracic aorta through the space between the esophagus and the aorta. This anatomical configuration resulted in a characteristic radiographic finding of a radiolucent area with a convex lateral border and a vertical medial border in the left lower lung zone, revealing a tongue-like projection on CT and MRI. Conclusion Posterior lung herniation occurs in unilateral left lung agenesis/aplasia. Approximately 70% of the cases of posterior lung herniation reveal a unique radiolucent tongue-like projection in the left lower lung zone on imaging studies, which is caused by the extension of the posteriorly herniated right lung farther beyond the descending aorta.

Purpose The purpose of this study was to identify imaging risk factors on contrast-enhanced hip MRI after closed reduction of developmental dysplasia of the hip (DDH) that could predict future development of avascular necrosis (AVN) of the femoral head. Materials and methods Fifty-eight infants (F: M = 53: 5, aged 3–18 months) who underwent immediate postoperative contrast-enhanced hip MRI after closed reduction of DDH were included in this study. Quality of reduction (concentric vs eccentric reduction with or without obstacles), abduction angle of the hip, presence of ossific nucleus, and pattern of contrast enhancement of the femoral head were retrospectively evaluated on MRI. Interobserver agreement of contrast enhancement pattern on MRI were evaluated by two radiologists. Development of AVN was determined through radiographic findings at 1 year after reduction. Results AVN of the femoral head developed in 13 (22%) of 58 patients. Excessive abduction of the hip joint (OR 4.65, [95% CI 1.20, 18.06] and global decreased enhancement of the femoral head (OR 71.66, [95% CI 10.54, 487.31]) exhibited statistically significant differences between the AVN and non-AVN groups (P < 0.05). Eccentric reduction (P = 0.320) did not show statistically significant difference between two groups and invisible ossific nucleus (P = 0.05) showed borderline significance. Multi-variable logistic regression indicated that global decreased enhancement of the femoral head was a significant risk factor of AVN (OR 27.92, 95% CI [4.17, 350.18]) (P = 0.0031). Interobserver agreement of contrast enhancement pattern analysis and diagnosis of AVN were good (0.66, 95% CI [0.52, 0.80]). Conclusion Contrast-enhanced hip MRI provides accurate anatomical assessment of the hip after closed reduction of DDH. Global decreased enhancement of the femoral head could be used as a good predictor for future development of AVN after closed reduction of DDH.

Background Central nervous system germ cell tumors (CNS GCTs) are a heterogeneous group of brain tumors, which are more common in Asian countries. There have been different therapeutic strategies in treating germinoma and non-germinomatous germ cell tumors (NGGCT), depending on prognosis. Moreover, long-term follow up should be emphasized due to higher late complication rates. Here, we investigated long-term outcomes and complication profiles of 127 CNS GCT patients who received uniform upfront chemotherapy. Methods We retrospectively evaluated outcomes of CNS GCT patients treated in Seoul National University Children’s Hospital from August 2004 to April 2019. Patients were classified as low risk (LR) or high risk (HR) based on pathologic diagnosis and tumor markers. Most patients received upfront systemic chemotherapy with carboplatin, cyclophosphamide, etoposide, and/or bleomycin, followed by either proton or photon radiation therapy according to patients’ choice. Results The median age at diagnosis was 11.9 (range, 3.8–25.1) years, and 54.3% of patients were LR. Photon and proton radiation therapy were administered to 73.2 and 25.2% of patients, respectively. In both LR and HR groups, there were no significant differences in survival between photon and proton radiation therapy. The 10-year relapse incidences were 9.3 and 5.6% in the LR and HR groups, respectively. All recurrences, except one, were local relapse. Six secondary malignancies occurred; the 10-year incidences of secondary malignancy were 2.2 and 7.6% in the LR and HR groups, respectively. The 10-year overall survival rates were 98.3 ± 1.7 and 91.8 ± 3.9% in the LR and HR groups, respectively. In a subgroup analysis of HR group, pathologically diagnosed NGGCT patients (n = 20) showed worse 10-year EFS (65.9 ± 11.9%, p p = 0.024) rates compared to other HR patients who were not pathologically diagnosed or were confirmed as germinoma with elevated tumor markers. All mortalities were related to disease progression or secondary malignancy. Conclusion The strategy of treating CNS GCTs with upfront chemotherapy according to risk groups resulted in good clinical outcomes and acceptable relapse incidence. However, further modification in the definition of the HR group is needed to reduce long-term complications.

BACKGROUND. Hippocampal sclerosis (HS) is a leading cause of medically refractory temporal lobe epilepsy in children. The diagnosis is clinically important because most patients with HS have good p...

Posttransplant lymphoproliferative disorder (PTLD) is a heterogeneous group of diseases with abnormal proliferation of lymphoid tissue and classical Hodgkin lymphoma (CHL) type PTLD is a very rare subtype. We describe a successfully diagnosed and treated CHL-PTLD stage IV pediatric patient, 8 years after liver transplantation. The patient was treated with standard CHL (Children's Cancer Group 5942 group 3) chemotherapy, rituximab and reduction of immunosuppressant. The patient remains in complete remission after 3 years with stable graft function. To our best knowledge, this is the first pediatric case report of a successfully treated stage IV CHL-PTLD after a liver transplant.

Heterotopic ossification in soft tissue or muscle is rare in the pediatric and adolescent age group. Most cases are associated with musculoskeletal injury and trauma to the central nervous system. Here, we describe an adolescent patient without a history of trauma or lesions in the central nervous system who presented with a painful limp with limited motion of the left hip. Investigations indicated unusually large heterotopic ossification extending from the inner aspect of the ilium down to the anterior part of the hip, highly likely to have developed after an unrecognized periacetabular pyomyositis primarily involving the iliacus muscle. Surgical excision was performed successfully without perioperative complications. No recurrence was detected at the final follow-up.

Toxicity of carmustine and cyclophosphamide can cause pulmonary injury after hematopoietic stem cell transplantation. To evaluate the radiologic findings of pulmonary injuries following carmustine- and cyclophosphamide-based preparative regimens in children. From 2010 to 2014, 35 children received carmustine- and cyclophosphamide-based preparative regimens. Fourteen of 35 children presented with symptoms and radiologic abnormalities. Eight of 14 children had no evidence of infection, cardiogenic edema, or other explainable causes. We retrospectively analyzed their chest radiographs and CT scans for ground-glass opacity, consolidation, septal thickening and pleural effusion. Major chest radiographic findings were bilateral diffuse ground-glass opacity (n=8) and septal thickening (n=7). CT findings were multifocal patchy (n=4) or inhomogeneously diffuse (n=4) ground-glass opacity, multifocal consolidations (n=7) and septal thickening (n=7). All of these lesions at CT were bilateral, but showed lower lobe predominance in 88, 100, and 63%, respectively. There was no central/peripheral or anterior/posterior predilection. Six children had small pleural effusions, which were bilateral in five children. Bilateral ground-glass opacity with or without consolidation, septal thickening and pleural effusion were common radiologic findings in pulmonary injury following carmustine- and cyclophosphamide-based preparative regimens.

Intracranial neurenteric cysts are rare and are not often found in the supratentorial space. We present a case of an intracranial neurenteric cyst that arose at the suprasellar cistern with extension to the middle cranial fossa. A 3-year-old girl presented with seizure. Neuroimaging showed a huge extra-axial cyst involving the suprasellar cistern and left middle cranial fossa. Under the impression of an arachnoid cyst, she underwent fenestration of the cyst with basal cisterns and ventricle. The pathologic diagnosis was neurenteric cyst. Four years after the surgery, MRI showed no recurrence but did show poorly developed myelination of the left temporal white matter. Three years after surgery, seizures recurred. We consider epilepsy surgery in case of uncontrolled seizure. We discuss the unique case of supratentorially located neurenteric cyst that is just treated by fenestration. A close follow-up is needed for children with intracranial neurenteric cysts to surveil not only recurrence of lesion but also normal brain development.

To evaluate the predictive value of ultrasonography in children with clinically suspicious hepatic veno-occlusive disease (VOD) after hematopoietic stem cell transplantation (HSCT). Among 216 children who underwent HSCT, 70 also underwent colour Doppler ultrasonography. Of these, 59 had only one sign/symptom, which did not fulfil the diagnostic criteria (clinical suspicion of VOD) at that time. VOD was confirmed in 20 patients (VOD group), while 39 had other conditions (non-VOD group). The following findings were reviewed and compared between groups: left portal vein (peak velocity, direction), left hepatic artery (peak-systolic/end-diastolic velocities, resistive index), middle hepatic vein (peak velocity, phasicity), hepatomegaly, splenomegaly, gallbladder wall thickness, and ascites. The VOD group showed significantly higher reversed flow in portal vein (P = 0.011), peak systolic velocity of left hepatic artery (P = 0.028), monophasicity of middle hepatic vein (P = 0.015), hepatomegaly (P = 0.001), gallbladder wall thickness (P

Background: We evaluated cardiovascular risk factors at the time of growth hormone (GH) retesting after completion of linear growth in patients with childhood-onset craniopharyngioma (CP). We also investigated the effects of postoperative hypothalamic involvement (HI) and GH discontinuation during transition period on cardiovascular risk factors. Methods: Forty-two CP patients (24 males, mean age 17.7 years) who reached final adult height after GH therapy between 1995 and 2012 from a tertiary center were included. We measured anthropometric data and components of the metabolic syndrome at the time of GH retesting. The period of GH discontinuation was classified as < 6 months vs. ≥ 6 months. The extent of HI was categorized into “no”, “mild”, and “extensive” HI according to Puget grading system. Results: The mean age of initial operation after CP diagnosis was 7.5 ± 3.6 years, and 23 (54.8%) patients showed extensive HI. All patients were treated with GH during childhood for median 5.8 years (range 2.4-8.2years). Duration of GH discontinuation was median 1.5 years (range 0.5-3.2 years), and 32 (76.2%) had GH discontinuation ≥ 6 months. At the time of GH retesting, 13 (31.0%) were obese, and the proportion of patients with impaired fasting glucose (≥ 100 mg/dL), high triglycerides (≥ 150 mg/dL), low high-density lipoprotein (HDL) cholesterol (male, < 40 mg/dL; female, < 50 mg/dL), and hypertension (systolic blood pressure ≥ 130mmHg or diastolic blood pressure ≥ 85mmHg) was 5 (11.9%), 18 (42.9%), 24 (57.1%), and 5 (11.9%), respectively. When multivariate-adjusted models were constructed including age, sex, postoperative duration, extent of HI, duration of GH discontinuation, and family history of cardiovascular disease, the extent of HI was significantly predictive for increased body mass index z-score (β = 1.27, P = 0.017), fasting insulin levels (β = 7.1, P = 0.049), HOMA-IR (β = 1.61, P = 0.020), and decreased HDL cholesterol levels (β = -9.9, P = 0.012). GH discontinuation more than 6 months was significantly associated with decreased HDL cholesterol levels (β = -10.23, P = 0.026). Conclusion: In this study, impaired fasting glucose or hypertension accounted for one-tenth, and dyslipidemia was detected in more than half of childhood-onset CP patients with GH deficiency at the time of GH retesting. The more extensive HI and the longer duration of GH discontinuation were associated with increased risk of metabolic disturbance during the transition period.

OBJECTIVEThere has been no established animal model of syringomyelia associated with lumbosacral spinal lipoma. The research on the pathophysiology of syringomyelia has been focused on Chiari malformation, trauma, and inflammation. To understand the pathophysiology of syringomyelia associated with occult spinal dysraphism, a novel animal model of syringomyelia induced by chronic mechanical compression of the lumbar spinal cord was created.METHODSThe model was made by epidural injection of highly concentrated paste-like kaolin solution through windows created by partial laminectomy of L-1 and L-5 vertebrae. Behavioral outcome in terms of motor (Basso-Beattie-Bresnahan score) and urinary function was assessed serially for 12 weeks. Magnetic resonance images were obtained in some animals to confirm the formation of a syrinx and to monitor changes in its size. Immunohistochemical studies, including analysis for glial fibrillary acidic protein, NeuN, CC1, ED-1, and caspase-3, were done.RESULTSBy 12 weeks after the epidural compression procedure, syringomyelia formation was confirmed in 85% of the rats (34 of 40) on histology and/or MRI. The syrinx cavities were found rostral to the epidural compression. Motor deficit of varying degrees was seen immediately after the procedure in 28% of the rats (11 of 40). In 13 rats (33%), lower urinary tract dysfunction was seen. Motor deficit improved by 5 weeks after the procedure, whereas urinary dysfunction mostly improved by 2 weeks. Five rats (13%, 5 of 40) died 1 month postoperatively or later, and 3 of the 5 had developed urinary tract infection. At 12 weeks after the operation, IHC showed no inflammatory process, demyelination, or accelerated apoptosis in the spinal cords surrounding the syrinx cavities, similar to sham-operated animals.CONCLUSIONSA novel experimental model for syringomyelia by epidural compression of the lumbar spinal cord has been created. The authors hope that it will serve as an important research tool to elucidate the pathogenesis of this type of syringomyelia, as well as the CSF hydrodynamics of the lumbar spinal cord.

Benign extracerebral fluid collection (bECFC) can be complicated by subdural hematoma (SDH) or subdural fluid collection (SDFC). The etiology, natural history, and management strategy for SDH/SDFC in bECFC are not fully understood. We retrospectively reviewed the cases of bECFC patients complicated with SDH/SDFC and tried (1) to confirm the fact that bECFC children are vulnerable to SDH/SDFC, (2) to investigate the clinical significance of 'trauma history' witnessed by a caregiver, and (3) to determine optimal management for them. Among 213 bECFC patients identified from January 2000 to August 2015, 20 patients (male:female = 14:6; median age, 6.5 months; range 1–16 months) complicated by SDH/SDFC documented with brain imaging were evaluated for their clinical manifestations, radiologic features, and management outcomes. The median follow-up period was 9.5 months. They were divided into two groups (traumatic group versus non-traumatic group) according to whether objective radiologic evidence of head injury was present or not, and the two groups were analyzed for any clinical differences between them. We also evaluated the clinical significance of witnessed traumatic events by caregivers as an additional independent variable in the analysis. The incidence of SDH/SDFC in bECFC patients was 9.4% (20/213) in our data. In a comparative analysis, the traumatic group is more likely to have 'acute' stage SDH, whereas the non-traumatic group is more likely to have 'chronic' stage SDH. The trauma history witnessed by caregivers did not show clinical significance in the data analysis when included as an independent variable. The prognosis of SDH/SDFC in bECFC patients was favorable without surgery in most of patients regardless of whether the patient has evidence of head trauma or not. Benign ECFC is vulnerable to SDH/SDFC development. For the bECFC patients complicated by SDH/SDFC, the trauma history witnessed by a caregiver did not show any clinical significance. A 'wait and watch' strategy is sufficient for the management of SDH/SDFC in bECFC patients.

Radiotherapy is one of the standard treatments for medulloblastoma. However, therapeutic central nervous system irradiation in children may carry delayed side effects, such as radiation-induced tumor and vasculopathy. Here, we report the first case of coexisting meningioma and moyamoya syndrome, presenting 10 years after radiotherapy for medulloblastoma. A 13-year-old boy presented with an enhancing mass at the cerebral falx on magnetic resonance imaging (MRI) after surgery, radiotherapy (30.6 Gy craniospinal axis, 19.8 Gy posterior fossa) and chemotherapy against medulloblastoma 10 years ago, previously. The second tumor was meningioma. On postoperative day 5, he complained of right-sided motor weakness, motor dysphasia, dysarthria, and dysphagia. MRI revealed acute cerebral infarction in the left frontal lobe and both basal ganglia. MR and cerebral angiography confirmed underlying moyamoya syndrome. Four months after the meningioma surgery, the patient presented with headaches, dysarthria, and dizziness. Indirect bypass surgery was performed. He has been free from headaches since one month after the surgery. For patients who received radiotherapy for medulloblastoma at a young age, clinicians should consider the possibility of the coexistence of several complications. Careful follow up for development of secondary tumor and delayed vasculopathy is required., Graphical Abstract

To evaluate whether a frequency-selective non-linear blending (BC) technique can improve tissue contrast and infarct detection on non-enhanced brain CT (NECT) in postoperative Moyamoya (MMD) patients.From January 2010 to December 2017, 33 children (13boys and 20girls; mean age 9.1±3.4 years) with MMD postoperatively underwent NECT followed by diffusion MRI. We compared the contrast-to-noise ratio (CNR) between gray matter (GM) and white matter (WM) in NECT and BC images and the CNR between the infarct lesion and adjacent normal-appearing brain in NECT and BC images using a paired t-test. We assessed image noise, GM-WM differentiation, artifacts, and overall quality using a Wilcoxon signed rank test. A McNemar two-tailed test was conducted to compare the diagnostic accuracy of infarct detection.The CNR between GM and WM and the CNR of the infarct was better in BC images than in NECT images (3.9±1.0 vs. 1.8±0.6, P0.001 and 3.6±0.3 vs. 1.9±0.2, P0.001), with no difference in overall image quality observed. The sensitivity and specificity of infarct detection were 55.0% and 76.9% using NECT, and 70.0% and 69.2% using BC technique. The diagnostic accuracy of NECT and BC technique was 63.6% (21/33) and 69.7% (23/33), respectively.This study showed that the BC technique improved CNR and maintained image quality. This technique may also be used to identify ischemic brain changes in postoperative MMD patients by improving the CNR of the infarct lesion.

The aim of this study was to evaluate the diagnostic performance of shear wave elastography (SWE) in human meniscus degeneration, with histology serving as the standard of reference. This comparative in vivo and ex vivo study was performed in 15 medial and 15 lateral menisci from 13 patients undergoing total knee arthroplasty (TKA) for primary osteoarthritis with varus deformity. Patients underwent in vivo coronal measurement with SWE for meniscus before surgery. Then, ex vivo assessment of meniscus stiffness with SWE was performed with the tissue obtained after TKA. SWE measurements were made in coronal and sagittal views with respect to the meniscus. Samples were analyzed histologically on a 0-18 scale according to the level of degeneration based on surface integrity, cellularity, fiber organization, collagen alignment and Safranin O staining intensity. The correlation between SWE measurement scale and histology was analyzed using Spearman's correlation. The area under the receiver operating characteristic curve (AUROC) was used to calculate the diagnostic performance of SWE in evaluating meniscus degeneration. Significant increases in stiffness were observed with increasing histologic degeneration in both in vivo and ex vivo coronal SWE. AUROCs were 0.79 (95% confidence interval [CI]: 0.49-1.00) for in vivo coronal SWE, 0.73 (95% CI: 0.53-0.95) for ex vivo coronal SWE and 0.56 (95% CI: 0.27-0.84) for ex vivo sagittal SWE. The medial meniscus, which exhibited more degeneration on histologic analysis, had greater stiffness than the lateral meniscus on ex vivo coronal SWE. The values of meniscus stiffness measured with SWE are correlated with the degree of meniscus degeneration. Further large-scale prospective studies may confirm the diagnostic performance of SWE as a non-invasive tool to assess meniscus degeneration.

Background Mycobacterium bovis Bacille Calmette-Guérin (BCG) osteitis, a rare complication of BCG vaccination, has not been well investigated in Korea. This study aimed to evaluate the clinical characteristics of BCG osteitis during the recent 10 years in Korea. Methods Children diagnosed with BCG osteitis at the Seoul National University Children's Hospital from January 2007 to March 2018 were included. M. bovis BCG was confirmed by multiplex polymerase chain reaction (PCR) in the affected bone. BCG immunization status and clinical information were reviewed retrospectively. Results Twenty-one patients were diagnosed with BCG osteitis and their median symptom onset from BCG vaccination was 13.8 months (range, 6.0–32.5). Sixteen children (76.2%) received Tokyo-172 vaccine by percutaneous multiple puncture method, while four (19.0%) and one (4.8%) received intradermal Tokyo-172 and Danish strain, respectively. Common presenting symptoms were swelling (76.2%), limited movement of the affected site (63.2%), and pain (61.9%) while fever was only accompanied in 19.0%. Femur (33.3%) and the tarsal bones (23.8%) were the most frequently involved sites; and demarcated osteolytic lesions (63.1%) and cortical breakages (42.1%) were observed on plain radiographs. Surgical drainage was performed in 90.5%, and 33.3% of them required repeated surgical interventions due to persistent symptoms. Antituberculosis medications were administered for a median duration of 12 months (range, 12–31). Most patients recovered without evident sequelae. Conclusion Highly suspecting BCG osteitis based on clinical manifestations is important for prompt management. A comprehensive national surveillance system is needed to understand the exact incidence of serious adverse reactions following BCG vaccination and establish safe vaccination policy in Korea., Graphical Abstract

Background Autonomic nervous system dysfunction is implicated in the development of hypothalamic obesity. We investigated the relationship between hypothalamic involvement (HI), central obesity, and cardiac autonomic dysfunction by assessing heart rate variability (HRV) indices in patients with childhood-onset craniopharyngioma. Methods A cross-sectional study of 48 patients (28 males, 10–30 years old) with hypothalamic damage after childhood-onset craniopharyngioma was performed. Postoperative HI was graded as mild (n = 19) or extensive (n = 29) on magnetic resonance imaging. Anthropometry, body composition and HRV indices including the standard deviation of all normal R-R intervals (SDNN) and total power (TP) as overall variability markers, root-mean square differences of successive R-R intervals (RMSSD) and high frequency (HF) as parasympathetic modulation markers, and low frequency (LF) as a sympathetic/sympathovagal modulation marker were measured. Results Patients with extensive HI had increased means of body mass index, waist circumference, and fat mass than those with mild HI (P < 0.05, for all). Centrally obese patients had a lower mean HF, a parasympathetic modulation marker, than centrally non-obese patients (P < 0.05). The extensive HI group had lower means of overall variability (SDNN and TP), parasympathetic modulation (HF), and sympathetic/sympathovagal modulation (LF) than the mild HI group (P < 0.05, for all). The interaction effect of HI and central obesity on HRV indices was not significant. In models adjusted for age, sex, and family history of cardiometabolic disease, the means of the overall variability indices (P < 0.05 for both SDNN and TP) and a sympathetic/sympathovagal modulation index (P < 0.05 for LF) were lower with extensive HI, without differences according to central obesity. Conclusions The reduced HRV indices with extensive HI suggests that hypothalamic damage may contribute to cardiac autonomic dysfunction, underscoring the importance of minimizing hypothalamic damage in patients with childhood-onset craniopharyngioma.

Objective To evaluate the diagnostic performance of a deep learning algorithm for the automated detection of developmental dysplasia of the hip (DDH) on anteroposterior (AP) radiographs. Materials and Methods Of 2601 hip AP radiographs, 5076 cropped unilateral hip joint images were used to construct a dataset that was further divided into training (80%), validation (10%), or test sets (10%). Three radiologists were asked to label the hip images as normal or DDH. To investigate the diagnostic performance of the deep learning algorithm, we calculated the receiver operating characteristics (ROC), precision-recall curve (PRC) plots, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) and compared them with the performance of radiologists with different levels of experience. Results The area under the ROC plot generated by the deep learning algorithm and radiologists was 0.988 and 0.988–0.919, respectively. The area under the PRC plot generated by the deep learning algorithm and radiologists was 0.973 and 0.618–0.958, respectively. The sensitivity, specificity, PPV, and NPV of the proposed deep learning algorithm were 98.0, 98.1, 84.5, and 99.8%, respectively. There was no significant difference in the diagnosis of DDH by the algorithm and the radiologist with experience in pediatric radiology (p = 0.180). However, the proposed model showed higher sensitivity, specificity, and PPV, compared to the radiologist without experience in pediatric radiology (p < 0.001). Conclusion The proposed deep learning algorithm provided an accurate diagnosis of DDH on hip radiographs, which was comparable to the diagnosis by an experienced radiologist.

OBJECTIVE: To assess the role of arterial spin-labeling (ASL) perfusion MRI in identifying cerebral perfusion changes after indirect revascularization in children with moyamoya disease. MATERIALS AND METHODS: We included pre- and postoperative perfusion MRI data of 30 children with moyamoya disease (13 boys and 17 girls; mean age ± standard deviation, 6.3 ± 3.0 years) who underwent indirect revascularization between June 2016 and August 2017. Relative cerebral blood flow (rCBF) and qualitative perfusion scores for arterial transit time (ATT) effects were evaluated in the middle cerebral artery (MCA) territory on ASL perfusion MRI. The rCBF and relative time-to-peak (rTTP) values were also measured using dynamic susceptibility contrast (DSC) perfusion MRI. Each perfusion change on ASL and DSC perfusion MRI was analyzed using the paired t test. We analyzed the correlation between perfusion changes on ASL and DSC images using Spearman's correlation coefficient. RESULTS: The ASL rCBF values improved at both the ganglionic and supraganglionic levels of the MCA territory after surgery (p = 0.040 and p = 0.003, respectively). The ATT perfusion scores also improved at both levels (p < 0.001 and p < 0.001, respectively). The rCBF and rTTP values on DSC MRI showed significant improvement at both levels of the MCA territory of the operated side (all p < 0.05). There was no significant correlation between the improvements in rCBF values on the two perfusion images (r = 0.195, p = 0.303); however, there was a correlation between the change in perfusion scores on ASL and rTTP on DSC MRI (r = 0.701, p < 0.001). CONCLUSION: Recognizing the effects of ATT on ASL perfusion MRI may help monitor cerebral perfusion changes and complement quantitative rCBF assessment using ASL perfusion MRI in patients with moyamoya disease after indirect revascularization.

Purpose To assess the usefulness of the relative position of the superior mesenteric artery (SMA) and superior mesenteric vein (SMV) in diagnosing intestinal malrotation in situs anomaly. Materials and methods From January 2004 to April 2015, 33 patients with situs anomalies were enrolled in this study who underwent abdominal USG, CT or MRI as well as upper gastrointestinal series (UGIS) or surgery: situs inversus (n = 16), left isomerism (n = 10), and right isomerism (n = 7); age 21.2 ± 23.2 years (mean ± standard deviation), range 0–72 years. The intestinal malrotation was confirmed with UGIS and/or operation in 16 patients. Relative positions of the SMV to the SMA were classified into four groups by reviewing abdominal USG, CT, or MRI: right sided, left sided, ventral sided, and dorsal sided. The incidence of malrotation was analyzed for each group. Results In 16 patients with situs inversus, there was reversed SMA-SMV relationship: left sided (n = 11) or ventral sided (n = 5). One situs inversus patient with ventral sided SMV had intestinal malrotation (6.25%). 17 patients with situs ambiguus showed various SMA-SMV relationships (ventral sided, n = 7; left sided, n = 5; right sided, n = 4; dorsal sided, n = 1). Among them, 15 patients (88.2%) had intestinal malrotation. Two patients with normal rotation had either right sided or dorsal sided SMV. Conclusion Situs ambiguus was commonly associated with intestinal malrotation with a variable SMA-SMV relationship. Reversal of the mesenteric vascular relationship was observed in situs inversus with normal rotation, not excluding the possibility of intestinal malrotation.

To evaluate the ultrasonography (US) features of Alagille syndrome (ALGS), as compared with biliary atresia (BA) or neonatal hepatitis (NH).Our study included 23 ALGS, 75 BA and 70 NH patients. The initial US images were retrospectively reviewed for gallbladder (GB) morphology with systemic classification, GB length and luminal area, presence of triangular-cord (TC) sign and hypertrophied hepatic-artery. The presence of anomalies associated with ALGS was evaluated. The diagnostic values of each finding and their combinations were evaluated.Both ALGS (57%) and BA (79%) were more frequently associated with abnormal GB shapes than NH (19%, all P0.001). The short and small GBs were more frequently observed in ALGS and BA than in NH (all P0.001). None in the ALGS and NH showed TC sign, while 41% in the BA did (all P0.001). Hypertrophied hepatic-artery was noted less frequently in both ALGS (13%) and NH (14%) than in BA (83%, all P0.001). The combination of US criteria with associated anomalies increased the positive-predictive-value for ALGS.Abnormal shaped GB with absence of the TC sign and hypertrophied hepatic-artery and presence of associated anomalies can be a differential point of ALGS.

Spondylodiscitis (SD) is a rare disease in children and diagnosis can be delayed because of the scarcity in incidence and lack of awareness. The purpose of this study was to evaluate and report the microbiologic epidemiology and clinical features of pediatric SD in South Korea.This was a retrospective study of children19 years old admitted for the treatment of SD between 2000 and 2014. Electronic medical records were reviewed for clinical parameters and etiologic agents.During the 15-year period, 25 patients were diagnosed with SD. The median age was 13.8 years, and 60% were male. Back pain was the most common presenting symptom (n = 17; 68%), and only 52% (n = 13) of the patients had a history of fever (≥38.0°C). In patients younger than 3 years, irritability (n = 5; 62.5%) was the most predominant symptom. Microorganisms were isolated in 22 cases, the most common being Staphylococcus aureus (40%) and Mycobacterium tuberculosis (32%). Of the 25 patients, 64% (n = 16) had blood cultures taken, 56% (n = 14) underwent percutaneous fluoroscopy-guided biopsy, and 48% (n = 12) underwent open surgical biopsy. The positive rate for microbiologic diagnosis of each method was 18.8% (n = 3) for blood culture, 71.4% (n = 10) for percutaneous biopsy and 100% (n = 12) for surgical biopsy. Overall, 52% (n = 13) needed surgical treatment along with antibiotic therapy. Patients who needed surgery had a significant delay in diagnosis compared with those that did not (median, 60 vs. 31 days; P = 0.014).S. aureus and M. tuberculosis are the predominant causes of SD in children in South Korea. Obtaining tissue culture is important to confirm the bacterial etiology of the infection and appropriately guide antibiotic therapy in a community in which the endemic organisms require treatment pathways that are widely divergent.

It is difficult to diagnosis early stage germ cell tumors originating in the basal ganglia, but early recognition is important for better outcome. To evaluate serial MR images of basal ganglia germ cell tumors, with emphasis on the features of early stage tumors. We retrospectively reviewed serial MR images of 15 tumors in 14 children and young adults. We categorized MR images of the tumors as follows: type I, ill-defined patchy lesions (

Background: Alveolar soft part sarcoma (ASPS) is a rare soft tissue tumor that typically affects young patients. Because of the rarity of the disease, the standard treatment is not established. The aim of this study is to evaluate the clinical characteristics and treatment outcomes of pediatric ASPS. Method: A retrospective study was conducted on children and adolescents treated for ASPS at a single center between 2000 and 2018. Results: A total number of 11 patients were evaluated. Median age at diagnosis was 12.6 (range 3.8-16.3) years. Nine (82%) were female. The most common primary sites were limbs (64%). IRS postsurgical clinical group (IRS CG) was I in 2 (18%), III in 3 (27%), and IV in 6 (55%) patients. Of 9 patients with IRS CG III and IV who received chemotherapy, one had a complete response, two had a partial response, and six had progressive disease. One patient showed SD to sunitinib. The 5-year event-free survival (EFS) and overall survival (OS) rates were 31% and 88%, respectively. The 5-year EFS rate by primary site was 50% for the 7 patients with extremity and 0% for the 4 patients with head and neck (P-value = 0.001). The 5-year OS rate by the primary site was 100% for the 7 patients with extremity and 50% for the 4 patients with head and neck (P-value = 0.027). Conclusion: Localized ASPS has a good prognosis after total resection. If the primary site is head and neck, the prognosis is poor due to difficulty in surgical resection. Chemotherapy and radiation therapy have limitations in the cure for patients with metastatic disease. Further studies of ASPS need to achieve development in treatment. Citation Format: Se Na Kang, Jung Yoon Choi, Bo Kyung Kim, Hong Yul Ahn, Kyung Taek Hong, Hyoung Jin Kang, Han Soo Kim, Jung Eun Cheon, Sung Hye Park, Hee Young Shin. Alveolar soft part sarcoma in children and adolescents: A single-institute retrospective analysis [abstract]. In: Proceedings of the AACR Special Conference on the Advances in Pediatric Cancer Research; 2019 Sep 17-20; Montreal, QC, Canada. Philadelphia (PA): AACR; Cancer Res 2020;80(14 Suppl):Abstract nr A65.

Objective To evaluate the incidence and risk factors of emetic complications associated with the intravenous administration of low-osmolality iodinated contrast media (ICM) in children undergoing computed tomography (CT). Materials and methods All children who underwent contrast-enhanced CT between April 2017 and July 2019 were included. Pediatric patients were instructed on the preparative dietary protocol at our institution. Experienced nurses in the radiology department monitored the children during the CT scans and recorded any emetic complications in their electronic medical records. These data were used to calculate the incidence of emetic complications. Various patient factors and technical factors, including fasting duration, the type and volume of ICM, and ongoing chemotherapy, were evaluated to identify risk factors for emetic complications using univariate and multivariate logistic regression analyses. Results Among the 864 children (mean age, 8.4 ± 5.7 years) evaluated, 18 (2.1%) experienced emetic complications (6 experienced nausea only and 12 experienced nausea and vomiting). None of the children developed aspiration pneumonia. The mean fasting duration of patients with emesis was 7.9 ± 5.7 hours (range, 3-21 hours), whereas that of patients without nausea was 8.7 ± 5.7 hours (range, 0-24 hours). Fasting duration was not associated with the development of nausea and vomiting (p = 0.634). Multivariate logistic regression analysis revealed that ongoing chemotherapy (odds ratio [OR] = 4.323; 95% confidence interval [CI] = 1.430-13.064; p = 0.009), iomeprol use (OR = 7.219; 95% CI = 1.442-36.146; p = 0.016), and iohexol use (OR = 5.241; 95% CI = 1.350-20.346; p = 0.017) were independent risk factors for emetic complications. Conclusion Only a small proportion (2.1%) of children experienced nausea or vomiting after exposure to low-osmolality ICM. Many children underwent excessive fasting; however, fasting duration was not associated with nausea and vomiting. Moreover, ongoing chemotherapy and the use of iomeprol or iohexol were identified as potential risk factors for emetic complications in children.

High-dose chemotherapy (HDC) and autologous stem-cell transplantation (auto-SCT) are used to improve the survival of children with high-risk brain tumors who have a poor outcome with the standard treatment. This study aims to evaluate the outcome of HDC/auto-SCT with topotecan–thiotepa–carboplatin and melphalan–etoposide–carboplatin (TTC/MEC) regimens in pediatric brain tumors. We retrospectively analyzed the data of 33 children (median age 6 years) who underwent HDC/auto-SCT (18 tandem and 15 single) with uniform conditioning regimens. Eleven patients aged

BACKGROUND AND PURPOSE: For the postoperative follow-up in pediatric patients with Moyamoya disease, it is essential to evaluate the degree of neovascularization status. Our aim was to quantitatively assess the neovascularization status after bypass surgery in pediatric Moyamoya disease by using color-coded digital subtraction angiography. MATERIALS AND METHODS: Time-attenuation intensity curves were generated at ROIs corresponding to surgical flap sites from color-coded DSA images of the common carotid artery, internal carotid artery, and external carotid artery angiograms obtained pre- and postoperatively in 32 children with Moyamoya disease. Time-to-peak and area under the curve values were obtained. Postoperative changes in adjusted time-to-peak (ΔTTP) and ratios of adjusted area under the curve changes (ΔAUC ratio) of common carotid artery, ICA, and external carotid artery angiograms were compared across clinical and angiographic outcome groups. To analyze diagnostic performance, we categorized clinical outcomes into favorable and unfavorable groups. RESULTS: The ΔTTP at the common carotid artery increased among clinical and angiographic outcomes, in that order, with significant differences ( P = .003 and .005, respectively). The ΔAUC ratio at the common carotid artery and external carotid artery also increased, in that order, among clinical and angiographic outcomes with a significant difference (all, P = .000). The ΔAUC ratio of ICA showed no significant difference among clinical and angiographic outcomes ( P = .418 and .424, respectively). The ΔTTP for the common carotid artery of >1.27 seconds and the ΔAUC ratio of >33.5% for the common carotid artery and 504% for the external carotid artery are revealed as optimal cutoff values between favorable and unfavorable groups. CONCLUSIONS: Postoperative changes in quantitative values obtained with color-coded DSA software showed a significant correlation with outcome scores and can be used as objective parameters for predicting the outcome in pediatric Moyamoya disease, with an additional cutoff value calculated through the receiver operating characteristic curve.

Objectives To analyze the texture features on cranial sonography in preterm neonates with white matter injury quantitatively and to correlate these features with magnetic resonance imaging (MRI). Methods The study included 33 preterm neonates treated in our neonatal intensive care unit who underwent serial cranial sonography and brain MRI near term. Patients were subdivided into 3 groups according to the presence and severity of white matter injury as revealed by MRI: normal (group 1; n = 20), mild (group 2; n = 5), and severe (group 3; n = 8). The periventricular echogenicity on sonography was evaluated quantitatively with second-order gray-level statistics (gray-level co-occurrence matrix [GLCM] method). Four GLCM texture features representing homogeneity were extracted in 12 directions: (1) angular second moment (ASM), (2) inverse differential moment (IDM), (3) contrast, and (4) entropy. Results Thirty of 48 features showed a statistically significant difference between groups 1 and 3 (ASM in 9 directions, IDM in 6 directions, contrast in 3 directions, and entropy in all 12 directions). There were no significant differences observed between groups 1 and 2 or groups 2 and 3. The mean contrast and entropy values were generally lower in group 1 than group 3, whereas the mean ASM and IDM values were higher in group 1. Conclusions Severe white matter injury could be identified by using GLCM texture analysis, whereas mild white matter injury observed on MRI could not be evaluated by GLCM analysis. Quantitative texture analysis using the GLCM may serve as a complementary tool for quantitative assessment of periventricular echogenicity.

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.

Introduction The location of a brain tumor is a fundamental characteristic, because various brain tumors develop in relatively specific locations. An atypical teratoid/rhabdoid tumor (AT/RT) is a highly age-specific tumor that occurs in infants and young children. However, AT/RTs develop in a variety of locations in the brain. This study aimed at uncovering the tumor location pattern of AT/RTs to enhance diagnoses. Material and methods Neuroimages from 27 patients with a pathologically proven AT/RTwere reviewed, and the specific tumor locations were described and categorized. The association of imaging characteristics and tumor location was analyzed. Results The posterior fossa was the most frequent locations accounting for 19 patients (70 %), followed by the diencephalon (four patients; 15 %), cerebrum (three patients; 11 %), and midbrain (one patient; 4 %). In the posterior fossa, the superior medullary velum (SMV) and cerebellopontine angle (CPA) areas were the most common sites (eight patients each) and three patients had a tumor in the inferior medullary velum (IMV) region. AT/RTs in the SMV area had a significantly higher chance of no/minimal enhancement compared with tumors in other locations (P=0.001) and a lower likelihood of leptomeningeal tumor seeding at presentation (P=0.053). Conclusion Thelocationspectrum of AT/RT follows a specific pattern, and some of the locations are linked with intriguing clinical characteristics. This information may not only help make correct preoperative diagnosis but also occasionally aid in postoperative pathological diagnosis.

Retinoblastoma usually recurs within the first few years after treatment completion. We report a rare case of very late relapse in a 6-month-old girl who was diagnosed with bilateral retinoblastoma. The patient achieved first remission after treatment with neoadjuvant chemotherapy, enucleation of the right eye, local laser therapy of the left eye, and adjuvant chemotherapy. Extraocular relapse with multiple metastases occurred 13 years and 8 months after treatment. The patient is currently in second complete remission after receiving high-dose chemotherapy and autologous stem cell transplantation. In conclusion, long-term follow-up is needed for early detection of recurrent retinoblastoma.

Schmid-type metaphyseal chondrodysplasia (MCDS) is characterized by short stature with short legs, bowing of the long bones, coxa vara, and waddling gait. MCDS is a relatively common form of MCD. Most mutations that cause MCDS occur within the carboxyl-terminal non-collagenous domain (NC1) of the COL10A1 gene. We performed mutational analysis of the COL10A1 genes in 4 unrelated Korean patients with diagnosed MCDS. Mutational analysis of COL10A1 identified c.1904_1915delinsT (p.Gln635LeufsX10) and c.1969dupG (p.Ala657GlyfsX10), 2 novel frameshift mutations, and c.2030T>A (p.Val677Glu) and c.862G>C (p.Gly288Arg) at unusual mutational sites, which could be pathogenic. We present the first report of the molecular characteristics of MCDS in 4 Korean patients. Our findings suggest that a novel sequence variation involving an unusual mutational site of the COL10A1 gene can cause mild MCDS.

Objective Menkes disease (MD) is an X-linked recessive disorder characterized by progressive neuro-degeneration. There are few reports of epilepsy and electroencephalography (EEG) findings and few reports of MD patients in Korea. We explored MD genotypes and phenotypes, including epilepsy, in Korean patients. Patients and methods All patients diagnosed as MD in our hospital, seven males, were included in this study. Their medical records and EEG findings were reviewed retrospectively. Results All male patients had developmental delay/regression with hypotonia, and the appearance of their hair and skin was characteristic of MD. A recurrent missense mutation was found in two patients. Two nonsense mutations and one gross deletion were also found. The five male patients with identified molecular defects experienced anticonvulsant-resistant seizures. EEGs in focal seizures usually revealed interictal focal epileptiform discharges over the posterior region without focal slowing. This was followed by modified hypsarrhythmia with less polymorphic background activity in spasms and anteriorly dominant diffuse slowing with generalized and multifocal epileptiform discharges in myoclonic or generalized tonic seizures. Two patients with the same G727R missense mutation both developed seizures that evolved with age but differed in severity. Conclusions G727R missense mutation may be relatively common in Korea, as in other countries. There was no clear correlation of genotype with phenotype, even in epilepsy and EEG abnormalities.

Background GM1 gangliosidosis is a rare lysosomal storage disorder caused by GLB1 mutations. Because of its extreme rarity and symptoms that overlap with other neurodegenerative diseases, its diagnosis is sometimes challenging, especially in the late infantile form with less severe phenotype. We aim to expand the clinical and genetic spectrum of late infantile GM1 gangliosidosis. Methods We confirmed a diagnosis of GM1 gangliosidosis based on GLB1 mutations and/or the deficiency of β-galactosidase activity. We identified the first two cases by whole-exome sequencing, and then the other six cases by direct sequencing of GLB1 with enzyme analysis. Results All eight patients presented with developmental delay or regression during late infancy and later developed epilepsy, mostly intractable generalized tonic seizures. No clinical signs of storage disorders were noted except for skeletal abnormalities. Interestingly, we found aspartate transaminase (AST) elevations alone with normal alanine transaminase (ALT) levels in all patients. The recurrent mutation, p.D448V in GLB1, accounted for 50.0% of total alleles in our cohort. Conclusions With a high index of clinical suspicion, skeletal survey and AST level would be important for early diagnosis of GM1 gangliosidosis. In addition, we would highlight the clinical usefulness of whole-exome sequencing in the diagnosis of non-classical presentation of ultra-rare neurodegenerative disease in children.

Acetazolamide-challenged brain single-photon emission computed tomography (SPECT) is used for the evaluation of cerebral perfusion in cerebrovascular diseases including moyamoya disease (MMD). Not a few patients experience adverse side effects during the acetazolamide-challenged brain SPECT, but most of the symptoms are mild and transient. To our knowledge, this is the first case report of severe brain infarction leading to death during the examination of an acetazolamide-challenged brain SPECT in a patient with MMD. An 11-year-old girl who had been diagnosed of MMD demonstrated sudden tonic movement during an acetazolamide-challenged brain SPECT as the preoperative examination for the second surgery. She had not experienced any adverse effect during the previous SPECT study and her first indirect bypass surgery on both left side and bifrontal area was uneventful. After she had seizures twice, she became unconscious and her pupils were dilated and fixed. Acute infarction involving bilateral occipital lobes, thalami, brainstem, and cerebellum was observed on brain magnetic resonance images which led to brain death. We report a mortality case of patient with MMD after the administration of acetazolamide during the examination of brain SPECT that was accompanied by an extensive acute infarction involving the bilateral occipital lobes and thalami, brainstem, and cerebellum. Physicians should be aware of this rare but serious complication.