Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.

Introduction: In the pediatric context, most children with autosomal dominant polycystic kidney disease (ADPKD) maintain a normal glomerular filtration rate (GFR) despite underlying structural kidney damage, highlighting the critical need for early intervention and predictive markers. Due to the inverse relationship between kidney volume and kidney function, risk assessments have been presented on the basis of kidney volume. The aim of this study was to use magnetic resonance imaging (MRI)-based kidney volume assessment for risk stratification in pediatric ADPKD and to investigate clinical and genetic differences among risk groups. Methods: This multicenter, cross-sectional, and case-control study included 75 genetically confirmed pediatric ADPKD patients (5-18 years) and 27 controls. Kidney function was assessed by eGFR calculated from serum creatinine and cystatin C using the CKiD-U25 equation. Blood pressure was assessed by both office and 24-hour ambulatory measurements. Kidney volume was calculated from MRI using the stereological method. Total kidney volume was adjusted for the height (htTKV). Patients were stratified from A to E classes according to the Leuven Imaging Classification (LIC) using MRI-derived htTKV. Results: Median (Q1-Q3) age of the patients was 6.0 (2.0-10.0) years, 56% were male. There were no differences in sex, age, height-SDS, or GFR between the patient and control groups. Of the patients, 89% had PKD1 and 11% had PKD2 mutations. Non-missense mutations were 73% in PKD1 and 75% in PKD2. Twenty patients (27%) had hypertension based on ABPM. Median htTKV of the patients was significantly higher than controls (141 vs. 117 ml/m, p = 0.0003). LIC stratification revealed Classes A (38.7%), B (28%), C (24%), and D + E (9.3%). All children in class D + E and 94% in class C had PKD1 variants. Class D + E patients had significantly higher blood pressure values and hypertension compared to other classes (p > 0.05 for all). Discussion: This study distinguishes itself by using MRI-based measurements of kidney volume to stratify pediatric ADPKD patients into specific risk groups. It is important to note that PKD1 mutation and elevated blood pressure were higher in the high-risk groups stratified by age and kidney volume. Our results need to be confirmed in further studies.

Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.

OBJECTIVE: Hereditary multiple osteochondromas is an autosomal dominant disorder caused by heterozygous pathogenic variants in EXT1 or EXT2. We aimed to evaluate the clinical and molecular findings of a Turkish cohort with hereditary multiple osteochondroma. MATERIALS AND METHODS: Thirty-two patients aged 1.3-49.6 years from 22 families were enrolled. Genetic analyses were made by EXT1 and/or EXT2 sequencing and chromosomal microarray analyses. RESULTS: We found 17 intragenic pathogenic variants in EXT1 (13/17) and EXT2 (4/17), 12 of which are novel. Four probands had EXT1 deletions, including 2 patients with partial EXT1 microdeletions involving exons 2-11 and 5-11, and 2 patients with whole-gene deletions. In 21 variants, the frequency of truncating and missense variants was 76.1% and 23.8%, respectively. Two families had no detectable variants in EXT1 and EXT2. All patients had multiple osteochondromas at the long bones, mainly at the tibia, forearm, femur, and humerus. Bowing deformity of the forearms (9/32) and the lower extremities (2/32), and scoliosis (6/32) were observed. The clinical severity was not different between patients with EXT1 or EXT2 variants. One patient with an EXT2 variant and another with an EXT1 microdeletion had the most severe phenotype with class III disease. Four patients with no EXT1 or EXT2 variants had milder phenotypes. Intrafamilial variability in disease severity was not observed. CONCLUSION: We report a hereditary multiple osteochondroma cohort with clinical and molecular data including 12 novel intragenic variants in EXT1 or EXT2, and 4 microdeletions involving EXT1. Taken together, our data expand the existing knowledge of the phenotype-genotype spectrum in hereditary multiple osteochondroma.

Endoscopic septum division of tubular esophageal duplication in two children and systematic review.

Tubular esophageal duplication is a rare congenital malformation The surgical treatment of this lesion can be challenging. We aimed to present our experience in two cases with tubular esophageal duplication. Both cases were endoscopically treated by a dual knife. The first patient underwent a single, while the second patient required three sessions of endoscopic septum division using an electrosurgical knife. Both showed satisfactory clinical, radiological and endoscopic response to treatment. Moreover, a systematic literature review has been performed. To identify all available studies, a detailed search on tubular esophageal duplication was performed according to the PRISMA (Preferred Reporting Items for Systematic reviews and Meta-Analyses) guidelines. Tubular esophageal duplication was reported in 16 pediatric cases in 14 studies in the literature. Surgery was applied to 10 of these cases and endoscopic treatment was applied to two of them. In the follow-up, nine patients who underwent surgical treatment and two patients who underwent endoscopic treatment were uneventful. Tubular esophageal duplications can be successfully treated endoscopically. Endoscopic septum division is a minimally invasive procedure that allows full anatomical recovery and satisfactory therapeutic response.

Increased risk for kidney sequelae surrogates in survivors of Wilms tumor.

BACKGROUND: There is evidence of increased risk of hypertension, albuminuria, and development of chronic kidney disease (CKD) in long-term follow-up of survivors of Wilms tumor (WT). However, most studies were conducted in heterogeneous groups, including patients with solitary kidney. In addition, little is known about tubular dysfunction. This study aimed to investigate kidney sequelae, including CKD development, hypertension, and glomerular and tubular damage in WT survivors. METHODS: This cross-sectional, single-center study included 61 patients treated for WT. Surrogates for kidney sequelae were defined as presence of at least one of the following: decrease in GFR for CKD, hypertension detected by ambulatory blood pressure monitoring, albuminuria (albumin-to-creatinine ratio [ACR] > 30 mg/g), or increase in at least one tubular biomarker (beta-2-microglobulin, neutrophil gelatinase-associated lipocalin, kidney injury marker-1, and liver fatty acid-binding protein) in 24-h urine. RESULTS: Median age of patients was 11.7 years, with median follow-up of 8.8 years. Thirty-eight patients (62%) had at least one surrogate for kidney sequelae. Twenty-four patients (39%) had CKD, 14 patients (23%) had albuminuria, 12 patients (21%) had hypertension, and 11 patients (18%) had tubular damage. Urine ACR was significantly higher in patients with advanced tumor stage and patients with nephrotoxic therapy than their counterparts (p < 0.05), but neither eGFR nor tubular biomarkers showed any association with tumor- or treatment-related factors. CONCLUSIONS: A considerable number of patients with WT have kidney sequelae, especially early-stage CKD with a high prevalence. Albuminuria emerges as a marker associated with tumor stages and nephrotoxic treatment. A higher resolution version of the Graphical abstract is available as Supplementary information.

Transient minimal hydronephrosis on contralateral kidney in infants with unilateral hydronephrosis: Is it an early sign of worsening of the affected kidney?

Background/aim: The criteria for surgical management of ureteropelvic junction obstruction are not well-defined, and there is a risk for loss of renal function before the operation. In this context, certain changes in contralateral kidney had been investigated in order to increase the sensitivity of diagnosis. In this study, we aimed to investigate whether contralateral transient minimal hydronephrosis (CTMH) can be considered as an "early alarm" sign for worsening of the affected kidney in infants with hydronephrosis. Materials and methods: A total of 182 infants (92 surgically treated and 90 conservatively followed-up) with unilateral hydronephrosis were retrospectively analyzed. Ultrasonography and renal scan findings were evaluated. Correlation between the appearance of CTMH, contralateral compensatory hypertrophy (CCH) on ultrasonography, and prognosis of the affected kidney were evaluated. Results: Among the surgically treated patients, 18 (19.6%) patients developed CTMH on average 7 months (0­13 months) before surgery. Among these 18 patients with CTMH, 12 patients (66.6%) had loss of renal function preoperatively, while this ratio was 29.7% on their counterparts (p = 0049). CCH was observed in 31 (33.7%) individuals in surgically treated patient group including all 18 patients with CTMH, while none of the conservatively followed-up patients developed CCH and/or CTMH. In the multiple logistic regression analysis, among the variables investigated, CTMH was found as an independent predictor of the deterioration in the affected kidney and of the poor prognosis (p = 0.011 and p = 0.0004, respectively). Conclusion: In our study, among the variables investigated, CTMH was found as an independent predictor of the deterioration in the affected kidney and poor prognosis in infants followed-up with isolated unilateral hydronephrosis. Additionally, CTMH can be considered as an "early alarm" sign for worsening of the affected kidney and the need for surgical intervention.

Urinary Ultrasound and Other Imaging for Ureteropelvic Junction Type Hydronephrosis (UPJHN).

Ultrasound is the main imaging study used to diagnose ureteropelvic junction (UPJ) obstruction. On ultrasound, abnormal dilatation of the pelvicalyceal system of varying degrees is seen, whereas the ureter is normal in caliber. A properly performed study provides essential information regarding laterality, renal size, thickness, and architecture of the renal cortex and degree of dilatation of the pelvicalyceal system. Doppler ultrasound may identify a crossing vessel, when present. This imaging method also has been used differentiating obstructive from non-obstructive hydronephrosis by renal arterial resistive index measurements. Abdominal radiographs may show soft tissue fullness, bulging of the flank, and displacement of bowel loops from the affected side. The voiding/micturating cystourethrogram helps exclude other causes of upper tract dilatation, including vesicoureteral reflux, urethral valves, and ureteroceles. Computerized Tomography angiography with multiplanar reformation and three-dimensional images may be used to depict suspected crossing vessels as a cause of UPJ obstruction in older children and adults. Magnetic Resonance Urography has progressed significantly in recent years due to the development of both hardware and software that are used to generate high-resolution images. This imaging technique currently allows for the detailed assessment of urinary tract anatomy, while also providing information regarding renal function, including differential renal function, and the presence or absence of obstructive uropathy.

Bilateral Synchronous Testicular Germ Cell Tumors in Children: Case Report and Review of the Literature.

Bilateral testicular tumors are very rare in pediatric patients and only a few case reports have been reported. These patients have a high risk of sterility due to bilateral orchiectomy and subsequent gonadotoxic treatments. Therefore, if possible, testis-sparing surgery should be performed in patients with benign masses and testicular tissue preservation may be recommended in order to maintain fertility in later life. We present a 23 months old boy with synchronous bilateral testicular tumor managed with unilateral orchiectomy and testis-sparing surgery and testicular tissue cryopreservation performed to the controlateral side. We also review the literature on bilateral testis tumors in children.

Adrenal masses in children: Imaging, surgical treatment and outcome.

BACKGROUND/OBJECTIVE: This study aims to evaluate the current surgical approach to adrenal masses in the pediatric age group. METHODS: We retrospectively analyzed cases that underwent surgery for adrenal masses between 2007 and 2017. Patients were assessed regarding age, sex, primary diagnosis, image defined risk factors (IDRF), surgical treatment method, complications, duration of hospital stay, and follow-up. RESULTS: We examined 50 patients who underwent surgery for adrenal mass (mean age: 4.8 years; range: 5 days-14 years). For IDRF assessment, Ultrasonography was used in 42, Computed Tomography in 36, and Magnetic Resonance Imaging in 36 patients. Lesions were present on the right in 25, left in 21, and bilateral in 4 patients. Histopathological findings were neuroblastoma (n = 29), ganglioneuroma (n = 6), adrenal cortex tumor (n = 5), ganglioneuroblastoma (n = 4), pheochromocytoma (n = 3), cyst (n = 1), and adrenal hematoma (n = 2). Laparotomy was performed on 37 patients, and laparoscopy on 13 patients. None of the cases had any operative complications. CONCLUSION: The crucial factors determining the surgical approach to adrenal masses in pediatric cases are the histopathology of the mass, volume, and IDRF. Minimally invasive procedures could be reliably performed in appropriate cases.

Sinusoidal Obstruction Syndrome During Chemotherapy of Pediatric Cancers and its Successful Management With Defibrotide.

Sinusoidal obstruction syndrome (SOS) is a life-threatening complication generally occurring after hematopoietic stem cell transplantation. SOS after standard dose chemotherapy in malignancies is rare. Between the year 1995 and 2016, 414 patients were diagnosed with acute lymphoblastic leukemia and 113 patients were diagnosed with Wilms tumor in our institution. Among these patients, 4 patients with acute lymphoblastic leukemia (0.96%) and 2 patients with Wilms tumor (1.7%) developed SOS during treatment. SOS behaves like a local disseminated intravascular coagulation. Defibrotide has proved to be effective in SOS. In this article, we report our experience with defibrotide in SOS.

Diffusion-weighted MRI for differentiating Wilms tumor from neuroblastoma.

PURPOSE: Wilms tumor (WT) and neuroblastoma (NB) are the most common pediatric abdominal malignant neoplasms of the kidney and adrenal gland. Differentiating them from each other is essential since their treatments are different. Here, we aimed to show the diffusion characteristics of WT and NB for differentiation. METHODS: Diffusion-weighted imaging (DWI) of 17 histopathologically diagnosed lesions (10 NB and 7 WT in 8 female and 9 male patients) was evaluated retrospectively. The apparent diffusion coefficient (ADC) value for each tumor was calculated using region-of-interest (ROI) measurements by two observers. The mean ADC values were compared, and receiver operating characteristics (ROC) curve analysis was performed. Intraclass correlation was evaluated for the reliability of ADC measurement. RESULTS: The mean ADC values measured by two observers were 0.787±0.09 ×10-3 mm2/s and 0.768±0.08 ×10-3 mm2/s for WT, and 0.524±0.16 ×10-3 mm2/s and 0.529±0.16 ×10-3 mm2/s for NB, respectively (P = 0.006 and P = 0.011). Intraclass correlation coefficient was 0.955. Utilizing ROC curve analysis, a cutoff ADC value of ≤0.645 ×10-3 mm2/s was obtained to differentiate NB from WT. CONCLUSION: ADC values of NBs were significantly lower than WT with a perfect interobserver agreement. We suggest that DWI may have a role in differentiating the two tumors.

Primary pericardial synovial sarcoma in an adolescent patient: magnetic resonance and diffusion-weighted imaging features.

Primary synovial sarcomas of the pericardium are extremely rare tumors, especially in pediatric population. As far as we know, only few cases have been reported in the literature. This uncommon location for synovial sarcomas could lead to misdiagnosis. Radiologists and clinicians should be aware of the imaging findings and differential diagnosis of pericardial synovial sarcoma. Herein we presented a 15-year-old boy who had primary pericardial synovial sarcoma with imaging features.

The impact of share wave elastography in differentiation of hepatic hemangioma from malignant liver tumors in pediatric population.

OBJECTIVE: In children it is crucial to differentiate malignant liver tumors from the most common benign tumor, hepatic hemangiomas since the treatment strategies are quite different. We aimed to evaluate the efficiency of shear wave elastography (SWE) technique in differentiation of malignant hepatic tumors and hepatic hemangiomas. METHODS: Twenty patients with hepatic tumor were included in our study. Two radiologists performed SWE for 13 patients with malignant hepatic tumors including hepatoblastoma (n=7), hepatocellular carcinoma (n=3), metastasis (n=2), embryonal sarcoma (n=1) and 7 patients with hepatic hemangioma. All of our patients were between the age of 1 and 192 months (mean age: 56.88 months). Receiver operating characteristic analysis was achieved to evaluate the diagnostic accuracy of SWE and to determine the optimal cut-off value in differentiation hepatic hemangioma from malignant hepatic tumors. RESULTS: The mean SWE values (in kPa) for the first observer were 46.94 (13.8-145) and 22.38 (6.6-49.6) and those for the second observer were 57.91 (11-237) and 23.87 (6.4-57.5), respectively for malignant hepatic tumors and hepatic hemangiomas. The SWE values of malignant hepatic tumors were significantly higher than those of hepatic hemangioma (p=0.02). The inter-observer agreement was almost perfect (0.81). The area under the receiver operating characteristic curve of SWE for differentiating the hepatic hemangioma from malignant hepatic tumors was 0.77 with a sensitivity of 72.7% and a specificity of 66.7% at a cutoff value of 23.62 with 95% confidence interval. CONCLUSION: Shear wave elastography can be helpful in differentiation of malignant hepatic tumors and hepatic hemangioma.

Treatment of pediatric Burkitt lymphoma in Turkey.

This study aimed to assess the demographic data and treatment results of children who were diagnosed with Burkitt lymphoma and treated according to the Berlin-Frankfurt-Münster-95 (BFM) protocol in a single institution. A total of 48 patients (37 boys, 77%) with a median age of 8 years (range 2 to 16 years) at diagnosis, were evaluated. Primary tumor sites were abdomen (70.8%), head and neck (22.9%), peripheral lymph node (2%), bone (2%), and testis (2%). The 5-year overall survival (OS) and event-free survival (EFS) were 78.1±4% and 76.6±6%, respectively. In univariate analysis, hemoglobin level less than 10 g/dL, cerebrospinal fluid (CSF) positivity and dialysis requirement at diagnosis were found to be important reverse predictor factors for EFS (P; 0.001, 0.001, 0.004, respectively). In multivariate analysis, hemoglobin level less than 10 g/dL and dialysis at diagnosis were found to be important reverse predictor factors for EFS (P; 0.0001). The EFS of our patients was lower than the values achieved with BFM-95 protocol in other centers. This study provides evidence that low hemoglobin level, CSF positivity and dialysis at diagnosis were important predictor factors for EFS in children with Burkitt lymphoma.

Fatal Trichoderma harzianum infection in a leukemic pediatric patient.

We report the repeated isolation for Trichoderma.harzianum, a rare opportunistic pathogen from three sets of each of the following clinical samples; blood serum, skin lesions, sputum and throat of a pediatric ALL patient with neutropenia. The definition of invasive fungal infection requires evidence of the presence of fungal elements in tissue samples, in addition to the isolation of suspected etiologic agent in culture. However, invasive procedures are not always applicable due to several factors, as for example in our case, the poor general status of the individual patient or thrombocytopenia. The present paper also emphasizes the problems encountered in obtaining appropriate samples and diagnosing invasive fungal disease in immunocompromised patient populations, including those with hematological malignancy. Three cases involving T. harzianum, including this one, have been described thus far in the literature. All were fatal and the fungus was resistant to antifungal therapy. A critical review of the other two cases of Trichoderma infections in humans is provided.

Progression of coronary calcification in pediatric chronic kidney disease stage 5.

Coronary artery calcification (CAC) is common in adults with chronic kidney disease (CKD) and progresses with time. However, data are limited for younger patients. We have previously reported CAC in eight of 53 children with CKD. After 2 years, CAC evaluation was repeated in 48 patients. The median CAC score (CACS) increased from 101.3 (1473.6 +/- 1978.6, range 8.5-4332) to 1759.2 (2236.4 +/- 2463.3, range 0-5858) Agatston units (AU). When the individual changes in CACS were evaluated one by one, we showed a mild decrease in two patients on hemodialysis (HD) and in one transplant (Tx) recipient, a moderate increase in one patient on HD, one on peritoneal dialysis (PD) and one Tx recipient, and a large increase in one HD patient. Also, CAC disappeared in one HD patient. All patients with no calcification at baseline remained calcification-free at follow-up. To obtain the individual cumulative exposure, we calculated time-averaged mean values, using the laboratory values from the beginning of dialysis to the first and second multidetector spiral computed tomography (MDCT) scans (baseline and final values, respectively). Final CACS was positively related to final calcium-phosphorus (CaxP) product, while CAC progression was inversely associated with final serum albumin level. This report is the first study with the largest number and the youngest cohort to document the natural history of coronary calcification.

Management of esophageal perforation secondary to caustic esophageal injury in children.

PURPOSE: To review our management of esophageal perforation in children with caustic esophageal injury. METHOD: We reviewed the medical records of 22 children treated for esophageal perforations that occurred secondary to caustic esophageal injury. RESULTS: There were 18 boys and 4 girls (mean age, 5 years; range, 2-12 years). Three children were treated for perforation during diagnostic endoscopy and 19 were treated for a collective 21 episodes of perforation during balloon dilatation. One child died after undergoing emergency surgery for tracheoesophageal fistula and pneumoperitoneum. Another patient underwent esophagostomy and gastrostomy. Twenty patients were treated conservatively with a nasogastric tube, broad spectrum antibiotics, and tube thoracostomy, 16 of whom responded but 4 required esophagostomy and gastrostomy. Although the perforation healed in 21 patients, 20 were left with a stricture. Two children were lost to follow-up, 8 underwent colonic interposition, and 10 continued to receive periodic balloon dilatations. Two of these 10 patients underwent colonic interposition after a second perforation. The other 8 became resistant to dilatations: 4 were treated by colon interposition; 2, by resection and anastomosis; and 2, by an esophageal stent. CONCLUSIONS: Esophageal perforation can be managed conservatively. Because strictures tend to become resistant to balloon dilatation, resection and anastomosis is preferred if they are up to 1 cm in length, otherwise colonic interposition is indicated.

Lumbosacral osseous tumors in children.

A wide variety of benign and malignant neoplasms in children involve the lumbosacral region. When a solitary lesion of the lower spine occurs, tumors or tumor-like lesions represent an important group of entities for diagnostic consideration. Diagnostic investigation should begin with a patient history, physical examination, laboratory testing, and radiography. Roentgenograms, which demonstrate bone deviations, should be used as an initial examination. The results should direct further imaging studies, such as computed tomography (CT), magnetic resonance imaging (MRI), and bone scintigraphy. CT should be the chosen modality for delineating tumoral osteoid matrix formation. MRI shows soft-tissue masses and medullary infiltration better than any other radiological modality. A multimodal radiological approach is helpful in the overall evaluation and differential diagnosis of vertebral lesions in children. Although imaging features, especially of benign lesions, may yield a high percentage of accurate diagnoses, in cases with radiological findings highly suggestive of malignancy, a specific diagnosis cannot always be made, and histopathological findings are essential to achieve the diagnosis that will guide the therapy.

Pseudocoarctation.

Pseudocoarctation, also known as kinking or buckling of the aorta, is an uncommon anomaly. Its recognition is important, because it may be mistaken for true coarctation, aneurysm or mediastinal neoplasm. A case of pseudocoarctation associated with left cervical aorta is reported. The present case is unique in the demonstration of obvious tortuosity and kink formation of the cervical aorta and main branches without frank aneurysm formation. Magnetic resonance angiography as a noninvasive imaging modality was suggested for the definitive diagnosis of cervical aortic arch and its accompanying anomalies.

Enteroclysis in older children and teenagers.

BACKGROUND: Enteroclysis (EC) has been widely and successfully used for evaluation of the small bowel in adults for about 30 years. However, despite recently improved intubation and examination techniques, in many paediatric radiology centres it is still not the preferred conventional barium study for the evaluation of small bowel pathology in children. OBJECTIVE: To share our 10 years of experience and review the feasibility of EC in 83 older children and teenagers, in terms of both technique and pathological findings. MATERIALS AND METHODS: Between 1996 and 2006, EC was performed by the standard technique described by Herlinger to 83 children between 7 and 18 years of age. The indication for the study was jointly decided by the paediatric radiologist and the clinician. None of the examinations was converted to follow-through studies because of patient refusal or technical failure. Morphological changes, mucosal abnormalities, luminal abnormalities, perienteric structures, the location of the disease, indirect findings regarding the bowel wall and functional information were evaluated. RESULTS: All the children tolerated the procedure without difficulty. Out of 83 patients, 63 had abnormal findings. The spectrum of diagnoses were Crohn disease (n = 23), nonspecific enteritis (n = 10), malabsorption (n = 8), intestinal tuberculosis (n = 6), intestinal lymphoma (n = 5), Peutz-Jegher syndrome (n = 3), adhesions (n = 2), Behçet disease (n = 2), back-wash ileitis due to ulcerative colitis (n = 2), common-variable immune deficiency (n = 1) and lymphangiectasis (n = 1). CONCLUSION: EC can easily be performed in children over 7 years of age and when performed using a correct technique it shows high diagnostic performance without any complications in the evaluation of small bowel diseases in older children and teenagers.