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Competing Interests: Declaration of competing interest The authors declare no conflicts of interest regarding this manuscript.

Background: Kimura disease (KD) is a rare chronic inflammatory disorder involving the Th2 pathway. Although medical treatment with steroids or other immunosuppressants is available, they may cause developmental issues in the pediatric population. Surgical intervention has also been suggested; however, it is associated with high recurrence rates., Case Presentation: A 14-year-old boy presented with left retroauricular lymph node enlargement at the age of 5 years. At the age of 7 years, he was diagnosed with nephrotic syndrome which subsided after steroid treatment for approximately 6 years. The retroauricular lymph node was surgically excised, and KD was confirmed. However, recurrent enlargement of the left retroauricular and neck lymph nodes occurred after 2 years. Persistently high IgE levels and fluctuating eosinophil counts were observed following steroid treatment. Dupilumab was prescribed because of the difficulty in tapering the steroid dosage. A loading dose of 600 mg was administered, followed by a maintenance dose of 300 mg every 2 weeks. The IgE level decreased after 3 months, and a low eosinophil count was maintained after steroid discontinuation. Follow-up computed tomography revealed a decrease in the size of the lymph nodes with no side effects such as conjunctivitis., Conclusion: Traditional treatments have raised developmental concerns in the pediatric population and are associated with high recurrence rates. Dupilumab targets the Th2 pathway and provides effective results, with few adverse effects. Dupilumab may be a therapeutic option for KD and other diseases involving the Th2 pathway., (© 2023 The Authors. Immunity, Inflammation and Disease published by John Wiley & Sons Ltd.)

Background: Although regarded as a potentially efficient approach to address tuberous sclerosis complex (TSC)-associated complications, the adverse event profile of everolimus has not yet been fully elucidated. The present study aimed to clarify the adverse event spectrum in patients with TSC who are using everolimus for common indications, in comparison to those who do not use everolimus. Materials and Methods: We recruited patients with TSC who were followed up annually at TSC integrated clinics or referred for medical assistance. Medical reviews and laboratory investigations were performed at baseline and annually by clinical physicians. The adverse events were assessed as per the National Cancer Institute Common Terminology Criteria for Adverse Events. Results: Common adverse events in everolimus users included hypercholesterolemia (55%), gingivostomatitis (50%), proteinuria (50%), and hyperglycemia (40%). Compared with everolimus nonusers, the occurrence of gingivostomatitis and proteinuria was significantly higher in everolimus users (gingivostomatitis, p=0.02; proteinuria, p=0.02). Among the everolimus users, 12 patients had level I CTCAE, and five had level II CTCAE. None of the everolimus users presented with CTCAE level III or higher. Conclusion: Patients with TSC who are everolimus users had a higher tendency to develop gingivostomatitis and proteinuria compared to nonusers. However, no differences were observed in the occurrence of other adverse events between everolimus users and nonusers., Competing Interests: Competing Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, or publication of this article., (© The author(s).)

Purpose: To evaluate the effectiveness and safety of intra-arterial imipenem/cilastatin sodium (IPM/CS) infusion for painful interphalangeal joint osteoarthritis (OA)., Materials and Methods: Fifty-eight patients with interphalangeal joint OA who underwent intra-arterial IPM/CS infusion were retrospectively evaluated. Intra-arterial infusions were performed via percutaneous wrist arterial access. The Numerical Rating Scale (NRS), Functional Index for Hand Osteoarthritis (FIHOA), and Patient Global Impression of Change (PGIC) scale scores were assessed at intervals of 1, 3, 6, 12, and 18 months. Clinical success was evaluated based on PGIC., Results: All patients were followed up for at least 6 months after treatment. Of them, 30 and 6 patients were followed up for 12 and 18 months, respectively. No severe or life-threatening adverse events were encountered. The mean NRS score was 6.0 ± 1.4 at baseline, which significantly decreased to 2.8 ± 1.4, 2.2 ± 1.9, and 2.4 ± 1.9 at 1, 3, and 6 months after treatment, respectively (all P < .001). The mean NRS scores were 2.8 ± 1.7 and 2.9 ± 1.9 at 12 and 18 months, respectively, in the remaining patients. The mean FIHOA score significantly decreased from 9.8 ± 5.0 at the baseline to 4.1 ± 3.5 at 3 months (P < .001). The mean FIHOA score was 4.5 ± 3.3 at 12 months in the remaining 30 patients. The clinical success rates based on PGIC at 1, 3, 6, 12, and 18 months were 62.1%, 77.6%, 70.7%, 63.4%, and 50.0%, respectively., Conclusions: Intra-arterial IPM/CS infusion is a potential treatment option for interphalangeal joint OA refractory to medical management., (Copyright © 2023. Published by Elsevier Inc.)

Competing Interests: Declaration of Competing Interest None.

Competing Interests: Declaration of competing interest The authors declare that they have no conflict of interest.

We report two cases of traumatic iliopsoas hemorrhage, without hemoperitoneum, initially detected by ultrasound. Flexion hip contracture in the first case and incomplete femoral nerve palsy in the second case alerted the sonographer to the possibility of traumatic iliopsoas hemorrhage. The first case involved a 54-year-old man who complained of progressive right flank pain and difficulty in walking after falling to the ground. The second case involved a 34-year-old man who complained of severe lower back pain and numbness and weakness of the left leg after a motorcycle accident. In both cases, iliopsoas hemorrhage was confirmed on subsequent multidetector computed tomography., Competing Interests: There are no conflicts of interest., (Copyright: © 2022 Journal of Medical Ultrasound.)

Competing Interests: Declaration of Competing Interest The authors declare no conflicts of interest regarding this manuscript.

Paraganglioma is a tumor that originates from neuroendocrine cells of the sympathetic or parasympathetic systems. Patients may suffer from headaches, palpitations, diaphoresis, and hypertension due to catecholamine excess or symptoms from the mass effect of the tumor. In the absence of typical symptoms of catecholamine excess, the diagnosis of a nonfunctional paraganglioma is often delayed. Herein, we report a case of a 63-year-old female patient with a nonfunctional paraganglioma which is an accidental finding during investigation of a fever. Abdominal ultrasonography incidentally detected this lesion as a complex, solid, cystic mass in the left suprarenal retroperitoneum., Competing Interests: There are no conflicts of interest., (Copyright: © 2020 Journal of Medical Ultrasound.)

Purpose: To assess the effectiveness of thermal ablation for aldosterone-producing adrenal adenoma., Materials and Methods: A systematic search of the PubMed and CINAHL databases was performed to identify studies of thermal ablation for adrenal adenomas. Random effects meta-analysis models were used to compare pre- and post-treatment values of the following outcomes: systolic blood pressure (SBP), diastolic blood pressure (DBP), use of antihypertensive medications, and biochemical parameters (plasma aldosterone levels, aldosterone-to-renin ratio, and potassium levels). The rate of hypertension (HTN) resolution and improvement were also evaluated., Results: A total of 89 patients from 7 studies were included in the analysis. The mean postablation follow-up duration was 45.8 months. Pooled data analysis revealed a statistically significant decrease in SBP (-29.06 mm Hg; 95% confidence interval [CI], -33.93 to -24.19), DBP (-16.03 mm Hg; 95% CI, -18.33 to -13.73), and the number of antihypertensive medications used (-1.43; 95% CI, -1.97 to -0.89) after ablation. Biochemical parameters had returned to normal ranges after ablation in all studies. The cumulative rate of resolution or improvement in HTN status was 75.3%. On metaregression analysis, there was no statistically significant association between postablation blood pressure changes or serum aldosterone levels and study follow-up duration., Conclusions: Thermal ablation for aldosterone-producing adrenal adenoma can be effective in controlling blood pressure, reducing the need for antihypertensive medications, and normalizing hormone secretion. Further higher-quality evidence is needed to confirm these results., (Copyright © 2019 SIR. Published by Elsevier Inc. All rights reserved.)

Tuberous sclerosis complex (TSC) is a rare disease that causes multisystem benign neoplasm, induced by dysregulation of the mammalian target of the rapamycin pathway (mTOR). This study aimed to examine the effects of continuous low-dose everolimus, a potent and selective inhibitor of mTOR, on the treatment of TSC-associated renal angiomyolipoma (AML). Between July 2013 and August 2017, 11 patients with TSC-AML were enrolled for an everolimus therapy protocol. An oral everolimus dose starting at 2.5 mg daily was gradually increased to 5.0 mg daily. All patients were evaluated using MRI or CT scanning at baseline, 12, 24, 36 and 48 months after the start of treatment for measuring changes of renal AML mass volume. Everolimus therapy resulted in significant shrinkage of TSC-AML volume after 48 months follow-up. Serum levels of everolimus were subdivided into group I (<8 ng/mL, n=6) and group II (>8 ng/mL, n=5). The volume reduction rates were 10.6%-65.2% in group I and 42.5%-70.6% in group II. To evaluate the response to treatment, three of six (50%) were responders in group I, and all the patients in group II (5/5, 100%) were responders. The differences in AML volume reduction between the groups were statistically significant at 12 months (p=0.011), 24 months (p=0006), 36 months (p=0.014) and 48 months (p=0.05). These results suggest that continuous low-dose everolimus therapy (2.5-5 mg daily) might be effective in shrinking TSC-AML volume and minimizes adverse effects and subsequent reducing medical costs., Competing Interests: Competing interests: None declared., (© American Federation for Medical Research 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Ultrasonography (US) is believed to be the most available method of detecting hepatic portal venous gas (HPVG) with real-time imaging capability. Hepatic portal venous gas has characteristic image appearances in various ultrasound modes such as bright mode, Doppler mode, and even motion (M) mode. In this article, we give a comprehensive review of the image appearances of HPVG among different modes of US with a special focus on the M mode US. Hepatic portal venous gas was recognized as linear echogenicities in various oblique directions (the meteor shower sign) on the M mode US. This specific sign may expand some potential of HPVG detection by US.

Purpose: This study sought to determine the association between twinkling artifacts on color Doppler ultrasound and different types of guidewires., Materials and Methods: Twenty-two commonly used guidewires were classified into three groups according to decreasing diameter (Group 1, 0.035"; Group 2, 0.018"; and Group 3, 0.014") and tested in vitro . Severity of twinkling was visually graded into four categories (0-3, from weak to strong)., Results: The percentages (tips/shafts) of twinkling artifacts were 100%/100% for Group 1; 0%/33.3% for Group 2; and 18.8%/31% for Group 3. The mean scores (tips/shafts) were 2.3/2.7 for Group 1; 0/0.3 for Group 2; and 0.3/0.4 for Group 3. Among them, both two guidewires with strong twinkling artifacts (score = 3) exhibited extensive rough surfaces on microscopic pictures., Conclusion: The twinkling artifacts were more likely to present in guidewires with larger diameters (from 0.014" to 0.035") in our study settings. The surface roughness may be the contribution to the twinkling artifact. Internal heterogeneities, such as types of material, types of coating, tip loading, and spring coil length, do not show influence on the twinkling artifact., Competing Interests: There are no conflicts of interest.

Background: The CHADS 2 and CHA 2 DS 2 -VASc scores are clinical risk stratification instruments that are used clinically to assess the risk of stroke in patients with atrial fibrillation (AF). The aim of this study was to evaluate whether the prestroke CHADS 2 and CHA 2 DS 2 -VASc scores could be useful for predicting infarction severity and long-term outcomes in patients with acute ischaemic stroke., Materials and Methods: This prospective study included all 1494 patients who had acute ischaemic stroke without haemorrhagic transformation which was evidenced with magnetic resonance (MR) imaging during hospitalization. Total infarction volume and arterial stenosis score were calculated based on MR imaging. National Institutes of Health Stroke Scale scores (NIHSSs) were obtained at admission and discharge by board-certified neurologists. The clinical outcomes were defined as composite endpoints of restroke and mortality and were recorded with the mean follow-up period of 37.5 months., Results: There were 195 (13.1%) patients with AF. The patients with AF had significantly higher median CHADS 2 and CHA 2 DS 2 -VASc scores than the patients without AF (P < .001). Patients with higher CHADS 2 and CHA 2 DS 2 -VASc scores had significantly higher total infarction volume, arterial stenosis score and NIHSS scores at discharge and poorer clinical outcomes. After adjusting for age, gender and AF, only CHA 2 DS 2 -VASc scores could predict both restroke and composite endpoints., Conclusions: Prestroke CHA 2 DS 2 -VASc scores appear to have better clinical value for predicting the severity of infarction and long-term clinical outcomes in acute ischaemic stroke patients with and without AF., (© 2017 Stichting European Society for Clinical Investigation Journal Foundation.)

Objective: The aims of this study were to evaluate the performance of noncontrast magnetic resonance angiography (NC MRA) for detecting renal artery stenosis (RAS) as compared with contrast-enhanced magnetic resonance angiography (CE MRA) and to evaluate the clinical feasibility, technical success rate, and performance of NC MRA for detecting RAS as compared with CE MRA., Methods: Thirty-six subjects who underwent NC MRA and/or CE MRA were enrolled. Feasibility, technical success rate, and image quality scores were compared. Diagnostic ability was calculated using conventional angiography as a reference., Results: Noncontrast MRA had higher feasibility and technical success rates than CE MRA did (100% and 97.2% vs 83.3% and 90%, respectively). Noncontrast MRA yielded significantly better image quality in motion artifact (P = 0.016). The diagnostic ability for detecting RAS is without significant difference between NC MRA and CE MRA., Conclusion: Although NC MRA and CE MRA demonstrated comparable ability in diagnosing RAS, NC MRA achieved better technical success rates, feasibility, and image quality in motion artifacts than CE MRA did.

Nine patients with advanced prostate cancer (stage T4) underwent prostatic arterial embolization (PAE) for refractory prostatic hematuria. Angiograms showed prostatic neovascularity in all cases, and complete PAE was achieved in 8 cases (89% technical success rate). Gross hematuria ceased after PAE in 6 cases, translating to a 67% clinical success rate. There were no PAE-related complications. At 3-month follow-up, 2 cases showed recurrent hematuria, 4 patients had died from PAE-unrelated etiologies, and only 3 patients survived and were without gross hematuria. PAE could represent an alternative option for patients with advanced prostate cancer to control hematuria., (Copyright © 2016 SIR. Published by Elsevier Inc. All rights reserved.)

Streptococcus pneumoniae is a common cause of infectious diseases in children that may lead to life-threatening complications. Acute purulent pericarditis is an uncommon complication of S. pneumoniae in the antibiotic era. A healthy 4-year-old girl was admitted with pneumonia and pleural effusion. She had received one catch-up dose of 13-valent pneumococcal conjugate vaccine at 2 years of age. She rapidly developed necrotizing pneumonia, complicated by bronchopleural fistula presenting as subcutaneous emphysema and pneumothorax and acute purulent pericarditis. S. pneumoniae serotype 19A was subsequently identified from blood, empyema and pericardial fluid cultures. After appropriate antibiotic therapy and a right lower lobectomy, her condition stabilized and she promptly recovered. This case highlights two rare potential clinical complications of pneumococcal disease in a child: necrotizing pneumonia and acute purulent pericarditis. This is the first report of a child who received just one catch-up dose of 13-valent pneumococcal conjugate vaccine at 2 years of age, as per the United States' Advisory Committee on Immunization Practice's recommendations, but who still developed severe invasive pneumococcal disease with life-threatening complications caused by S. pneumoniae serotype 19A.

Purpose: The study sought to evaluate the efficacy of magnetic resonance imaging (MRI) in patients with suspected subclavian steal syndrome (SSS) using both contrast-enhanced (CE) MR angiography and phase-contrast (PC) MRI., Methods: Fifteen suspected SSSs from 13 patients were evaluated using CE-MR angiography and PC-MRI. Ten patients also received dynamic CE-MR angiography., Results: All MRI examinations were technically successful. By combining CE-MR angiography with PC-MRI, 10 SSSs were diagnosed in 9 patients. The delay enhancement dynamic technique predicted SSS with a sensitivity, specificity, and accuracy of 57.1%, 100%, and 72.7%, respectively. Without the dynamic technique, affected delay-enhanced arteries were poorly visualized and could be mistaken for occluded vessels. Retrograde vertebral flow by PC-MRI was used to predict ipsilateral SSS with a sensitivity, specificity, and accuracy of 100%, 60%, and 86.7%, respectively. There were 2 false positives including 1 patient with a proximal total occlusion of the affected vertebral artery and another with brachiocephalic steal syndrome rather than SSS. This suggested that retrograde vertebral flow does not always indicate SSS., Conclusions: CE-MR angiography combined with PC-MRI is efficacious when evaluating SSS in clinical practice., (Copyright © 2016 Canadian Association of Radiologists. Published by Elsevier Inc. All rights reserved.)

Purpose: The most common neurological complications associated with tuberous sclerosis complex (TSC) include intractable seizures that begin in infancy and subependymal giant cell astrocytoma (SEGA) complicated by hydrocephalus with increasing age. Information on SEGA growth of TSC patients is limited. This study aimed to examine the TSC-SEGA growth rates by periodic neuroimaging., Methods: This study evaluated the TSC-SEGA growth rates by serial neuroimaging. Fifty-eight patients with TSC underwent systematic evaluation, including a review of medical history and serial brain neuroimaging., Results: While magnetic resonance imaging was more sensitive in detecting cortical tubers than computed tomography (73.1 vs. 0 %, p < 0.001), its efficacy in identifying intracranial lesions was comparable to that of computed tomography (96.2 vs. 100 %, p = 0.658). Significant tumor growth was observed in children (p = 0.012) and adults (p = 0.028) during follow-up periods, respectively (median for children 23.5 months, interquartile range 18-40 months and median for adults 23 months, interquartile range 12-34 months). Further, the SEGA growth rate in children was significantly higher than that in adults (75.6 vs. 16.5 %, p = 0.03)., Conclusions: The results of the study show that SEGA has a significantly higher growth rate in children using serial follow-up brain imaging, suggesting the importance of performing follow-up neuroimaging at yearly intervals in childhood to identify and prevent potential comorbidities.

Extraadrenal paragangliomas are rare pediatric tumors with variable symptoms that cause difficultly in diagnosis and delayed treatment. We report the case of a 10-year-old boy who presented to the pediatric emergency department with acute chest pain and dyspnea mimicking a non-ST-segment elevation acute myocardial infarction. He was subsequently found to have an extraadrenal paraganglioma after a series of imaging and laboratory examinations. The mass was subsequently removed, and the diagnosis of extraadrenal paraganglioma was confirmed histologically. Acute coronary syndrome as the presenting feature of extraadrenal paragangliomas in pediatric population is an even rarer clinical entity.

Deficiency of hypoxanthine phosphoribosyltransferase activity is a rare inborn error of purine metabolism with subsequent uric acid overproduction and neurologic presentations. The diagnosis of Lesch-Nyhan syndrome (LNS) is frequently delayed until self-mutilation becomes evident. We report the case of a boy aged 1 year and 10 months who was diagnosed with profound global developmental delay, persistent chorea, and compulsive self-mutilation since the age of 1 year. Serial serum uric acid levels showed normal uric acid level, and the spot urine uric acid/creatinine ratio was >2. The hypoxanthine phosphoribosyltransferase cDNA showed the deletion of exon 6, and the boy was subsequently diagnosed to have LNS. He also had respiratory distress due to pulmonary embolism documented by chest computed tomography scan. This report highlights the need to determine the uric acid/creatinine ratio caused by increased renal clearance in LNS in young children. The presence of pulmonary embolism is unusual and may be the consequence of prolonged immobilization., (Copyright © 2013. Published by Elsevier B.V.)

Background: Time-of-flight (TOF) magnetic resonance (MR) angiography is based on flow-related enhancement using the T1-weighted spoiled gradient echo, or the fast low-angle shot gradient echo sequence. However, materials with short T1 relaxation times may show hyperintensity signals and contaminate the TOF images. The objective of our study was to determine whether subtraction three-dimensional (3D) TOF MR angiography improves image quality in brain and temporal bone diseases with unwanted contaminations with short T1 relaxation times., Methods: During the 12-month study period, patients who had masses with short T1 relaxation times noted on precontrast T1-weighted brain MR images and 24 healthy volunteers were scanned using conventional and subtraction 3D TOF MR angiography. The qualitative evaluation of each MR angiogram was based on signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR) and scores in three categories, namely, (1) presence of misregistration artifacts, (2) ability to display arterial anatomy selectively (without contamination by materials with short T1 relaxation times), and (3) arterial flow-related enhancement., Results: We included 12 patients with intracranial hematomas, brain tumors, or middle-ear cholesterol granulomas. Subtraction 3D TOF MR angiography yielded higher CNRs between the area of the basilar artery (BA) and normal-appearing parenchyma of the brain and lower SNRs in the area of the BA compared with the conventional technique (147.7 ± 77.6 vs. 130.6 ± 54.2, p < 0.003 and 162.5 ± 79.9 vs. 194.3 ± 62.3, p < 0.001, respectively) in all 36 cases. The 3D subtraction angiography did not deteriorate image quality with misregistration artifacts and showed a better selective display of arteries (p < 0.0001) and arterial flow-related enhancement (p < 0.044) than the conventional method., Conclusion: Subtraction 3D TOF MR angiography is more appropriate than the conventional method in improving the image quality in brain and temporal bone diseases with unwanted contaminations with short T1 relaxation times., (Copyright © 2013. Published by Elsevier B.V.)

Ectopic kidney is a rare condition. Giant hydronephrosis is also an uncommon lesion in children and is usually due to ureteropelvic junction obstruction. We report a case of 7-year-old girl presenting with abdominal fullness. The imaging characteristics of magnetic resonance urography of the lesions are reported. The findings from the radiologic investigations were suggestive of a dysplastic ectopic pelvic kidney with giant hydronephrosis. Subsequent surgery confirmed the diagnosis. An ectopic kidney with giant hydronehrosis is an extremely rare condition in children and can present as an asymptomatic abdominal mass. A careful survey for other structural anomalies is mandatory in such cases., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Encrustation is one of the most common complications that may develop with the use of a nephrostomy catheter. We used the color Doppler twinkling artifact to detect encrustation and obstruction of a nephrostomy catheter in vivo. This was confirmed by in vitro scanning of the catheter after analyzing the radiogram. Color Doppler twinkling artifact may provide useful information on the management of nephrostomy catheters., (Copyright © 2012 Wiley Periodicals, Inc.)

An ectopic ureter draining into the seminal vesicle or vas deferens in males is a very rare anomaly and is usually associated with renal dysplasia or agenesis. An ectopic ureter associated with a dysplastic kidney is not usually a suspected cause during clinical evaluation of children with abdominal pain. This report presents a rare case of an ectopic ureter associated with a dysplastic kidney with an acute infection in a previously healthy 12-year-old boy, demonstrated by magnetic resonance imaging. He presented with abdominal pain that mimicked acute appendicitis-like symptoms which was subsequently complicated by epididymitis manifesting as an acute scrotum. Clinicians should consider including an ectopic ureter in the differential diagnosis of children presenting with acute abdomen.

A wandering spleen is a rare condition. It is usually diagnosed when abdominal pain develops secondary to splenic torsion. Although splenic hypermobility is the pathognomonic feature of a wandering spleen, it is rarely revealed by imaging in the subclinical stage. We report 3 patients with a subclinical wandering spleen who had incidental sonographic findings of splenomegaly. Gray scale and color Doppler sonography in the right decubitus position can easily show the migratory nature and perfusion status of a wandering spleen in real time.

Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system. The brain images of Leigh syndrome are characterized by markedly symmetrical involvement, most frequently of the putamen. We report a 2-year-old girl with Leigh syndrome manifested as acute onset of altered level of consciousness. Brain magnetic resonance images showed abnormal signal intensity over the bilateral basal ganglia and cerebellar dentate nuclei. Despite normal biochemical studies, in particular serum lactate levels, magnetic resonance spectroscopy demonstrated a downward doublet lactate peak. The diagnosis of Leigh syndrome was subsequently confirmed by genetic study which showed a novel mutation at 8597T>C of the mitochondrial ATPase6 gene., (Copyright © 2012. Published by Elsevier B.V.)

Complete agenesis of the bladder and urethra is an extremely rare congenital anomaly and most of these patients are stillborn or die during infancy. We report the case of a 1-month-old female infant with bladder and urethral agenesis who presented with bilateral dilated and tortuous ectopic ureters draining into the vagina diagnosed using MR imaging. Our patient was maintained on antibiotic prophylaxis and she remained well during the 3-year follow-up. MR imaging can be used as a valuable modality for genitourinary abnormalities, particularly in cases of inconclusive ultrasound or retrograde pyelography findings.

Multicystic dysplastic kidney (MCDK) is a congenital maldevelopment in which the renal cortex is characteristically replaced by numerous cysts of multiple sizes. MCDK presenting as a single predominant large cyst in morphology is less common. We report on the prenatal imaging findings and perinatal management of a fetus with MCDK unusually presenting as a single predominant large cyst, erroneously interpreted as a severe fetal hydronephrosis. Details of the perinatal history, radiological evaluation, morphological characteristic, and clinical aspect of this case are presented. We also discuss a few studies addressing the sensitivity of magnetic resonance urography for the prenatal diagnosis of MCDK., (2011, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. All rights reserved.)

Interstitial deletion of the proximal short arm of chromosome 4 has rarely been described. This defect is associated with variable clinical manifestations, including mental retardation, unusual facial appearance, and minor limb abnormalities. We describe a girl diagnosed with moderate mental retardation and seizures with an interstitial deletion of the short arm of chromosome 4 [46, XX, del(4)(p12p15.2)]., (Copyright © 2011. Published by Elsevier B.V.)

The color Doppler twinkling artifact manifests as a rapidly changing mixture of red and blue colors behind strongly reflective structures. The twinkling artifact occurs behind diseased cardiac valves, although the phenomenon is not well described. This study sought to determine the presence of the color Doppler twinkling artifact in calcified cardiac valves in vitro using soft tissue radiography for reference. Seventeen specimens of diseased cardiac valves from patients undergoing valve replacement surgery were studied. The overall sensitivity and specificity for the detection of calcifications using the presence of the twinkling artifact were 66.7% and 81.8%, respectively. If valves with only microcalcifications or smooth calcifications were eliminated from the analysis, all (100%) of the three valves with irregular macrocalcifications exhibited the twinkling artifact. It is important to recognize this artifact because it may lead to misdiagnosis of vascular flow in echocardiography., (Copyright © 2011 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.)

We present the sonographic characteristics of a rare case of cholesterol granuloma within a renal epithelioid angiomyolipoma (AML) in a 57-year-old woman. Sonography showed acoustic shadowing distal to the central region of the AML behind a hyperechoic cholesterol, which was hypoattenuating on CT with no contrast enhancement. Microscopic examination confirmed that this central area was a cholesterol granuloma. The patient was treated successfully with radical nephrectomy., (Copyright © 2010 Wiley Periodicals, Inc.)

Structural anomalies associated with partial 2p monosomy are rare. There has only been one case of interstitial deletion of 2p24.2-2p25.1 and three cases of 2p23.3-2p25.1 described in the literature. We report here the first instance of an interstitial deletion of 2p23p24, confirmed by comparative genome hybridization. We present a clinical and cytogenetic report of a patient with psychomotor retardation, hearing impairment, and limb abnormalities. The obvious osseous fusion with bone marrow and cortex continuation between proximal parts of radius and ulna-congenital radioulnar synostosis-were first visualized by multidetector-row computed tomography scan., (Copyright © 2011. Published by Elsevier B.V.)

Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features, developmental delay, and macrocephaly. Here, we present a 10-year-old girl with prenatal and postnatal overgrowth, prominent forehead, pointed chin, and advanced bone age. She also has a persistent falcine sinus in the posterior falx cerebri, patent ductus arteriosus, unilateral renal agenesis, and scoliosis. A pituitary macroadenoma was also found with external compression of the inferior aspect of the optic chiasm. We identified a de novo missense mutation of the NSD1 (nuclear receptor-binding SET domain protein 1) gene in this patient. Computational three-dimensional structural analysis revealed that the NSD1 mutation induced major alterations.

Three-dimensional computed tomography (3D-CT) not only allows accurate preoperative delineation of the lesions but also provides precise pathomechanic diagnosis for planning the most effective treatment to avoid respiratory compromise. In a 10-month-old baby girl, who was ventilator-dependent after successful correction of double outlet right ventricle (DORV), flexible fiberoptic bronchoscopy (FFB) revealed the new formation of postoperative airway obstruction over the right main bronchus (RMB) and obstructed right tracheal bronchus (RTB). 3D-CT demonstrated tracheobronchial obstruction (TBO) was caused by the dilated ascending aorta (AAo) and right pulmonary artery (RPA). Sequential treatments including artery pexy of AAo and RPA and balloon dilatation (BD) of the stenotic RTB and RMB had successfully restored the airway patency. The patient was successfully weaned from ventilator 2 days after treatments and has shown no respiratory difficulty thus far. Thus, the impact of preoperative 3D-CT on planning treatment cannot be emphasized.

Puncture or laceration of the pulmonary, intercostal, or peripheral vessels is an uncommon, but potentially life-threatening, complication of thoracentesis, which has been reported to result in severe haemothorax in 75% of patients. Damage to these vessels typically requires surgical intervention or intra-arterial embolisation. We report the successful non-surgical management of an unusual case of pulmonary artery perforation without concomitant haemothorax in an 82-year-old man who underwent thoracentesis.

Objective: To present the prenatal magnetic resonance imaging (MRI) and ultrasound findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with chromosome 17p13.3 deletion in a fetus., Case Report: A 30-year-old, primigravid woman was referred to the hospital at 31 weeks' gestation because of intrauterine growth restriction (IUGR) and polyhydramnios detected by ultrasound. The pregnancy was uneventful until 31 weeks of gestation when IUGR and polyhydramnios were first noted. Level II ultrasound at 31 weeks' gestation showed fetal biometry equivalent to 27 weeks' gestation, an amniotic fluid index of 33.4 cm, ventriculomegaly, and abnormal sulcal development with absence of gyri and sulci, and a shallow Sylvian fissure. Other organs were unremarkable. Subsequent amniocentesis revealed a 46,XY,del(17)(p13.3) karyotype. Ultrafast fetal MRI performed at 34 weeks of gestation revealed agyria/pachygyria, a figure-eight appearance of the brain, a wide and shallow Sylvian fissure, enlarged subarachnoid space, ventriculomegaly, and polyhydramnios. At 35 weeks' gestation, a 1,346-g male baby was delivered with facial dysmorphism, characteristic of MDLS. Postnatal MRI confirmed the prenatal diagnosis., Conclusion: Polyhydramnios, IUGR and ventriculomegaly are important prenatal ultrasound markers of MDLS. Prenatal diagnosis of these markers should include a detailed investigation of cerebral sulci and fissures, and genetic analysis for MDLS. Fetal MRI is helpful for the diagnosis of lissencephaly.

Multiple symmetric lipomatosis (MSL; Madelung disease) is an uncommon disorder with diffuse multiple symmetrical unencapsulated accumulations of fat located in the neck and the upper trunk. MSL usually occurs in middle aged Caucasian men of Mediterranean ancestry with a history of alcoholism. In the past decade, an increasing number of cases in the Chinese population have been reported which appear to be limited to the head and neck regions. We describe two Chinese patients with MSL who have a history of alcoholism. The MR and CT findings disclosed that one patient had the typical accumulation of unencapsulated fat in the neck and upper back, while the other patient had more than the typical neck involvement and an unusual distribution of fat in the scrotum.

We report on the clinical, cytogenetic, and imaging findings in a patient with a 7q terminal deletion. The 11-year-old girl had mental retardation, microcephaly, a distinctive face, relatively small hands and feet, and sacral dysgenesis. High resolution GTG banding (550-850 bands) showed a 7q terminal deletion. A detailed evaluation of associated malformations and the overall clinical picture should be taken into account when identifying the underlying diagnosis in cases of sacral dysgenesis with mental retardation.

Hydranencephaly is a rare and fatal central nervous system disorder where all or nearly all of the bilateral cerebral hemispheres are absent. The extensive hollow cerebrum is replaced with cerebrospinal fluid. Clinically, the differential diagnoses of hydranencephaly include severe hydrocephalus and alobar holoprosencephaly. Nearly all cases are sporadic, involving approximately 1 in 5000 continuing pregnancies. The exact main cause is still unknown, but hydranencephaly is usually found to develop secondarily to the occlusion of cerebral arteries above the supraclinoid level. We present the case of a 1-month-old male infant with hydranencephaly initially thought to be severely hydrocephalus via routine antenatal intrauterine sonography performed at 35 weeks of gestation. Hydranencephaly was confirmed by brain sonography, brain magnetic resonance imaging and magnetic resonance angiography postnatally. We discuss several imaging features that are helpful in distinguishing hydranencephaly from extreme hydrocephaly. Different theories that have been recently proposed regarding the origin of hydranencephaly are reviewed.

Neither abdominal wall hernia nor diaphragmatic hernia is an unusual disease. But some may have difficulty diagnosing the presence of intra-abdominal fat in the thorax under an intact diaphragm. We report a case with an external compression of the right lower lung from intra-abdominal fat owing to a hernia through the right lateral abdominal wall and secondary through the ninth intercostal space of the chest wall to the right lower thorax without traumatic history. Multiple images, including multidetector row computed tomography, are reviewed.

Color Doppler twinkling artifact is known as a rapidly changing mixture of red and blue behind certain strongly reflecting structures. This artifact has been described behind calcifications in various tissues. We describe a case of twinkling artifact related to chronic pancreatitis with parenchymal calcification.

The facial marginal alveolar bone of dogs was exposed with a full-thickness flap and touched by an activated electrosurgery electrode for periods of 0, 1, 5 and 10 seconds. Microscopic results were evaluated after periods ranging from 0 hours to 28 days. Various electrode exposure times produced similar changes in bone and periodontal ligament. The extent of the destruction was greater than that found in surgical areas not exposed to electrosurgery; healing and remodeling phases were also delayed in the electrosurgical sites.

The effects of electrosurgery, retraction cord, and the rotary gingival curettage technique were tested clinically and histologically in dogs. Postoperative periods analyzed ranged from 6 hours to 14 days. All methods induced some kind of minor damage. Recession of clinical magnitude was induced only by rotary gingival curettage. Apical migration of the junctional epithelium was not seen.