Laser interstitial thermal therapy (LITT) for pediatric patients affected by intracranial tumors.

Introduction: The surgical treatment of brain tumors has evolved over time, offering different strategies tailored to patients and their specific lesions. Among these strategies, Laser Interstitial Thermal Therapy (LITT) is one of the most recent advances in pediatric neurooncological surgery, and its results and evolution are still under assessment. Methods: We retrospectively analyzed data from six pediatric patients with deep-seated brain tumors treated with LITT at a single center between November 2019 and June 2022. A total of four patients underwent a stereotaxic biopsy during the same operating session. The indications and preparation for LITT, technical issues, clinical and radiological follow-up, impact on quality of life, and oncological treatment are discussed. Results: The mean patient age eight years (ranging from 2 to 11 years). The lesion was thalamic in four patients, thalamo-peduncular in one, and occipital posterior periventricular in one. In total, two patients had been previously diagnosed with low-grade glioma (LGG). Biopsies revealed LGG in two patients, ganglioglioma grade I in one, and diffuse high-grade glioma (HGG) in one. Postoperatively, two patients presented with transient motor deficits. The mean follow-up period was 17 months (ranging from 5 to 32 months). Radiological follow-up showed a progressive reduction of the tumor in patients with LGG. Conclusion: Laser interstitial thermal therapy is a promising, minimally invasive treatment for deep-seated tumors in children. The results of lesion reduction appear to be relevant in LGGs and continue over time. It can be used as an alternative treatment for tumors located at sites that are difficult to access surgically or where other standard treatment options have failed.

Complete agenesis of corpus callosum and unilateral cortical formation anomalies detected on fetal MR imaging: a phenotype strongly associated with the male fetuses.

INTRODUCTION: In a previous study of classifying fetuses with cortical formation abnormalities (CFA) with fetal MR, we noticed a cluster of cases with unilateral CFA and complete agenesis of the corpus callosum (ACC). In this study, we provide a detailed morphological analysis of such fetuses using fetal MR to determine if there are indicators (such as the gender of the fetus) that could be used to delineate a genetic substrate of the phenotype in order to inform future studies. METHODS: We have studied 45 fetuses with the unilateral CFA/ACC phenotype and analysed through an expert consensus panel the location and fine detail of the CFA and the associated findings such as associated anomalies, head size, and sex of the fetus. RESULTS: The frontal lobe was significantly more frequently involved by CFA when compared with other lobes (p < 0.001) but no preference for the left or right hemisphere. CFA most often consisted of excessive/dysmorphic sulcation. The CFA/ACC phenotype was overwhelmingly more frequent in male fetuses (M:F 4.5:1-p < 0.0001). The most frequent associated findings were: ventriculomegaly (16/45 fetuses) and interhemispheric cysts (12/45 cases). CONCLUSIONS: This report highlights the specific phenotype of unilateral CFA/ACC that is much more common in male fetuses. This finding provides a starting point to study possible sex-linked genetic abnormalities that underpin the unilateral CFA/ACC phenotype. KEY POINTS: • We collected fetuses with unilateral cortical formation abnormality and callosal agenesis. • That distinctive neuroimaging phenotype has a strong male gender prevalence (over 80%). • This observation forms the basis of studies about outcomes and genetic substrates.

Bartonella henselae vertebral osteomyelitis in a pediatric patient: A case report.

Bartonella henselae is an unusual and rarely suspected osteomyelitis etiologic agent. We present a case of low back-pain in a 10-year-old female which lead to a challenging diagnostic work-up due to subtle imaging findings. The diagnosis was Bartonella henselae vertebral osteomyelitis mimicking bone tumor.

Early Effects of Elexacaftor-Tezacaftor-Ivacaftor Therapy on Magnetic Resonance Imaging in Patients with Cystic Fibrosis and Advanced Lung Disease.

This is a prospective, observational study involving three Cystic Fibrosis (CF) adult patients, evaluating the changes in chest magnetic resonance imaging (MRI) three months after the start of elexacaftor/tezacaftor and ivacaftor therapy. MRI showed a drastic reduction in mucus plugging and bronchial wall thickening, with an improvement in the diffusion-weighted MRI score. Similarly, a marked improvement in spirometric parameters, nutritional status, and sweat chloride was observed. Our preliminary data confirm that chest MRI could be a useful tool to assess disease progression in CF patients on modulatory drug therapy.

Can contrast enhanced ultrasound (CEUS) be useful in the diagnosis of ovarian torsion in pediatric females? A preliminary monocentric experience.

PURPOSE: To describe contrast enhanced ultrasound (CEUS) characteristics of ovarian torsion in pediatric females, assessing the potential diagnostic advantages of method as well as its limitations. MATERIALS AND METHODS: A retrospective study design was used. Between January 2018 and December 2020 we analyzed all pediatric females who underwent explorative surgery with a suspected diagnosis of ovarian torsion, and who were previously evaluated by conventional ultrasound (US), color-Doppler ultrasound (CDUS) and CEUS. RESULTS: We examined twenty pediatric females with a median age of 12 years. US identified 9/20 ovarian complex masses against 13/20 by CEUS. At US abdominal free fluid was shown in 13/20 patients and in 18/20 cases with CEUS. In our case series the evaluation of contrast enhancement at CEUS in the detection of ovarian torsions revealed a sensitivity of 94.1%, a specificity of 100% and an overall accuracy of 95%. CONCLUSION: Although there is a known ultrasound semeiotics suggestive of ovarian torsion, it is not always possible to obtain a diagnosis of certainty with conventional US even with CDUS. The study reports that complementation with CEUS showed excellent agreement with surgery obtaining a diagnosis in almost all the pediatric females examined.

Changes in appearance of cortical formation abnormalities in the foetus detected on sequential in utero MR imaging.

OBJECTIVES: We describe 64 foetuses with cortical formation abnormalities (CFA) who had two in utero magnetic resonance (iuMR) exams, paying particular detail to those in which the original classification of CFA category changed between the two studies. The goal was to attempt to quantify the value of third-trimester follow-up studies in CFA foetuses on second-trimester iuMR imaging. METHODS: The 64 foetuses reviewed came from a CFA cohort of 374 foetuses reported in an earlier publication, which detailed a classification for foetal CFA. A consensus panel of senior paediatric neuroradiologists reviewed both studies, described any change in the category of CFA between them, and attempted to predict the possible clinical significance of any differences based on the combined clinical experience of the panel. RESULTS: In 40/64 (62%) foetuses, the CFA description was the same on both studies. In 24/64 (38%) cases, there was a category change which included three foetuses without CFA on first examination, six foetuses where the difference involved change in laterality/symmetry, and in 15 cases the re-classification involved categorical change within the same group. Brain abnormalities other than CFA were present in 30/64 (47%) foetuses on the first study and in 33/64 (52%) on the second. We predicted that prognosis would have changed on the basis of the second study in 8% of cases, all indicating worse prognosis. CONCLUSIONS: We have shown that the extra diagnostic and predicted prognostic yield justifies follow-up studies in the third trimester if a CFA is shown on the second-trimester iuMR imaging. KEY POINTS: • Sixty-four foetuses with cortical formation abnormalities had two iuMR studies, for the vast majority the baseline in the second trimester and the sequential in the third. • In three foetuses, the cortical formation abnormality (CFA) was not visible on the first study. In a further 21 foetuses, the categorical description of the CFA changed between the two studies. Prognosis changed in 8% of the cases following the second iuMR study, and in all cases, the prognosis was worse. • Multiple iuMR studies provide information about the natural history of CFA; the extra diagnostic and predicted prognostic yield justifies follow-up studies.

Cortical formation abnormalities on foetal MR imaging: a proposed classification system trialled on 356 cases from Italian and UK centres.

OBJECTIVE: To formulate a classification system for foetal cortical formation abnormalities (CFAs) based on in utero magnetic resonance (iuMR) appearances and trial it in 356 cases. METHODS: This retrospective study included all cases of foetal CFA diagnosed between 2000 and 2017 from seven centres in Italy and UK. All of the studies were reviewed by a panel of paediatric neuroradiologists experienced in iuMR with the aid of an algorithm designed to categorise the abnormalities. RESULTS: Consensus expert review confirmed 356 foetuses with CFA and the first level of classification distinguished bilateral CFA (229/356-64%) from unilateral CFA (127/356-36%) cases with sub-classification of the bilateral cases into asymmetric (65/356-18%) and symmetric (164/356-46%) involvement. There was a statistically significant excess of foetuses with small head size, e.g. 17% of the cohort had a bi-parietal diameter < 3rd centile. There was a small but statistically significant excess of males in the cohort. Further categorisation was made on fine anatomical structure. CONCLUSIONS: It is often not possible to classify foetal CFA using the principles and nomenclature used in paediatric neuroradiology. We have created a classification system for foetal CFA based on the analysis of 356 cases and believe that this will assist future research designed to correlate ante-natal and post-natal imaging features and understand the clinical sequelae of CFA described in utero. KEY POINTS: • We describe a morphological classification system of foetal brain cortical formation abnormalities that can be used in clinical practice. • This classification system can be used in future research studies to evaluate the long-term imaging and clinical outcomes of foetal brain cortical formation abnormalities in 17- to 38-week gestational age range. • The practical value of the work is in providing a framework and language to look for imaging clues that may differentiate between different CFA in further studies.

Quantitative Analysis of Apparent Diffusion Coefficient for Disease Assessment in Paediatric Inflammatory Bowel Disease.

OBJECTIVE: The aim of the study was to establish an apparent diffusion coefficient (ADC) cut-off value to classify active and non-active lesions in inflammatory bowel disease. METHODS: We reviewed 167 paediatric magnetic resonance enterographies executed for suspected inflammatory bowel disease by using a 1.5- and 3-T scanner. We assessed the presence and activity of the disease by using morphologic and functional parameters such as the ADC. Each patient could have more than 1 examinations. Quantitative assessment of disease activity in the ADC map was measured placing 3 regions of interest in the areas of highest inflammation and the mean value was calculated, patients without sign of inflammation were assessed at 2 standardised site. Ileocolonoscopy, esophagogastroduodenoscopy, surgery, and video-capsule endoscopy were used as standards of reference. RESULTS: We enrolled 34 patients and 35 examinations: radiological findings of disease were identified in 29 examinations and 44 lesions were detected. Six patients had negative results and ADC assessment was taken at the terminal ileum and cecum. A total of 56 bowel segments were included in the study. Image analysis revealed 39 active lesions (69.6%) and their ADC values were lower compared to the ones of non-active segments. For each scanner a cut-off value was found (sensitivity: 0.91, specificity: 0.89 for 1.5 T and 0.81 for 3 T). Inter-rater agreement on disease activity between ADC values and magnetic resonance enterography results and between ADC values and the standard of reference were very good. CONCLUSIONS: ADC can provide a scanner-based quantitative measurement of disease activity.

Inflammatory Myofibroblastic Tumor of the Tongue. Report of a Pediatric Case and Review of the Literature.

BACKGROUND: Inflammatory myofibroblastic tumor (IMT) is an uncommon mesenchymal lesion composed of myofibroblastic and fibroblastic spindle cells, accompanied by inflammatory infiltration. IMT may occur in the tongue. Five cases have been previously reported at this site. CASE REPORT: An inflammatory myofibroblastic tumor arose in the tongue of a 10 month old infant, confirmed by anaplastic lymphoma kinase (ALK) immunohistochemical staining and the clinical response to the tyrosine kinase inhibitor. CONCLUSIONS: IMT can occur in the tongue. This report highlights the differential diagnosis of IMT. ALK staining is both a helpful diagnostic marker and a predictive marker for targeted therapy in this tumor type.

Outcome of long-term complications after permanent metallic left bronchial stenting in children.

OBJECTIVES: We describe the way we treated 7 children with critical long-term complications after metallic balloon-expandable stenting in the left mainstem bronchus. METHODS: Endoscopic follow-up included a first bronchoscopy 3 weeks after stenting, then monthly for 3 months, every 4-6 months up to 1 year and at scheduled times to calibrate stent diameter up to final calibration. When major complications occurred, patients underwent chest computed tomographic angiography. RESULTS: In 1 of the 7 children (median age 2.8 years), metallic left bronchial stenting served as a bridge to surgery. After a median 4-year follow-up, all 7 children experienced recurrent stent ovalizations with stent breakage in 3 and erosion in 1. In 4 children, computed tomographic angiography showed abundant peribronchial fibrous tissue, in 2 left mediastinal rotation and in 1 displacement along the left bronchus after pulmonary re-expansion as the cause of stent-related complication. Of the 7 children, 6 underwent surgery (5 posterior aortopexy and 1 section of the ligamentum arteriosus) and 3 required nitinol stents placement within the metallic ones. One patient completed the follow-up, and 1 patient was lost to follow-up. All 5 remaining children still have permanent bronchial stents in place, patent and re-epithelialized after a median 10.5-year follow-up. There were no deaths. CONCLUSIONS: Satisfactory anatomical relationships when children have stents placed in the left mainstem bronchus alone do not guarantee the final success. Several mechanisms intervene to cause critical stent-related complications in children during growth. Permanent metallic stents should be used carefully, and only in selected patients.

Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.

Prenatal diagnosis of skeletal dysplasias is particularly difficult for many reasons and differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily pathognomonic for a specific disorder. The diagnosis is often made just after birth or exitus. The prenatal diagnosis of osteochondrodysplasias is based predominantly upon fetal ultrasound findings and it focuses substantially on the possible lethality of the disorder, without always being able to find a specific name for the disorder. Metatropic dysplasia is a rare osteochondrodysplasia due to mutations in the TRPV4 gene: TRPV4 is a cation channel, non-selectively permeable to calcium, encoded by a gene on chromosome 12q24.11; it is widely expressed and involved in many different physiological processes through responses to several different stimuli (physical, chemical, and hormonal) in ciliated epithelial cells. The exact incidence of this disorder is not known, however less than a hundred cases have been reported at present, with only two prenatal reports but without any reference to the molecular test. We describe the first report of molecular diagnosis of metatropic dysplasia carried out in prenatal diagnosis: the molecular testing of the TRPV4 (transient receptor potential cation channel, subfamily V, member 4, MIM *605427) gene in our case, in fact, detected a causative variant, confirming the diagnostic suspicion, which was made possible thanks also to the utilization of MRI and CT scan. In our case different imaging methods together with the close cooperation of a multidisciplinary team and test availability, allowed an accurate diagnosis.

The role of posterior aortopexy in the treatment of left mainstem bronchus compression.

OBJECTIVES: We reviewed the role of posterior aortopexy for left mainstem bronchus compression in infants and children. METHODS: Eighteen children with respiratory symptoms were enrolled between 2005 and 2015 for surgical decompression of the left mainstem bronchus. The children were managed from diagnosis to follow-up by a dedicated tracheal team. Primary outcomes were the complete relief of symptoms or improvement with respect to preoperative clinical status. RESULTS: The median age was 4 years (0.3-15.4) and the median weight was 13.2 kg (3, 1-40). Symptoms or indications for bronchoscopy included difficult weaning from mechanical ventilation (n = 3, 17%), difficult weaning from tracheotomy (n = 4, 22%), recurrent pneumonia (n = 4, 22%), wheezing (n = 3, 17%), atelectasis (n = 1, 5.5%), bitonal cough (n = 1, 5.5%) and stridor (n = 2, 11%). Associated malformations were present in 88.7%. The diagnosis was made by bronchoscopy and computed tomography. Indication for surgery was the presence of pulsations and reduction in the diameter of the left mainstem bronchus compression of more than 70%. Surgery was performed by left posterolateral thoracotomy. Aortopexy was done under bronchoscopic control. No early or late deaths were observed, nor were reoperations necessary. Residual malacia was observed in 8 children (44%). Median follow-up was 4.1 years (0.1-7.1). At last follow-up, 17/18 (94.4%) children showed adequate airway patency. CONCLUSIONS: The intrathoracic location of the left mainstem bronchus predisposes it to compression. Vascular anomalies represent the most frequent causes. Aortopexy has been advocated as a safe and useful method to relieve the compression, and our results confirmed these findings. Management of these patients is challenging and requires a multidisciplinary team.

Features and perspectives of MR enterography for pediatric Crohn disease assessment.

The aim of this paper is to provide indications for performing magnetic resonance enterography (MRE) in Crohn's disease (CD), the essential technical elements of MRE techniques and typical findings in patients with CD. Patients suffering from CD frequently require cross-sectional imaging. By performing MRE, it is possible to obtain results comparable to those obtained with endoscopy in terms of identifying and assessing disease activity and better than other cross-sectional imaging techniques, such as CT, in the evaluation of the fibrosis and complications of disease. The MR imaging of diffusion MR is a technique which enables medical staff to add important additional information and which may replace the use of intravenous contrast agents in the near future. Magnetic resonance enterography is an accurate tool for assessing bowel disease and the various complications associated with CD. The lack of exposure to non-ionizing radiation is an important advantage of this imaging technique, especially in the case of pediatric patients. Familiarity with common and pathognomonic imaging features of CD is essential for every clinician involved in the treatment of inflammatory bowel disease and the care of patients.

Reactive lymphoid hyperplasia of liver mimicking late ovarian cancer recurrence: case report and literature review.

Reactive lymphoid hyperplasia (RLH) is a rare, benign, lymphocytic tumour-like lesion reported in various organs. It has been previously identified in 18 cases in the English-language literature, but only 5 of them were related to oncological disease. No previous cases have been described of RLH occurring in ovarian cancer patients. We describe a case of hepatic RLH which developed in a patient treated for ovarian cancer 11 years previously. Radiological features on computed tomography (CT) scan and PET-CT (positron emission tomography-computed tomography) were strongly suggestive of oncological disease, in contrast to magnetic resonance imaging (MRI); the volume increment of the nodular lesion and the rise in carbohydrate antigen 125 corroborated the hypothesis of malignancy. The patient was subjected to resection of the 7th segment of the liver and the final histological report showed RLH. RLH should be considered in the presence of hepatic lesions in suspected ovarian cancer recurrence. Imaging techniques should be thoroughly investigated to exclude tumor recurrence promptly, in order to avoid unnecessary surgery.

Diffusion-weighted MR imaging and apparent diffusion coefficient of the normal fetal lung: preliminary experience.

OBJECTIVE: To assess if a correlation is present between apparent diffusion coefficient (ADC) values and normal lung maturation during gestation to define potential reference values as indicators of the lung development. METHODS: Our study included 50 pregnant women (gestational age, GA: 18-36 weeks), with normal fetal development of lungs assessed by a previous obstetric ultrasound (US), and then confirmed by our magnetic resonance (MR) examination. We used T2-weighted sequences, diffusion-weighted imaging sequences (DWI) and ADC maps for studying pulmonary tissue. In all cases the resulting ADC values were related to GA using Pearson correlation. RESULTS: ADC values ranged from 1,2 microm(2)/ms at 18 weeks' gestation to 3,9 microm(2)/ms at 36 weeks' gestation with a mean value, regardless for the gestational age, of 2, 352 +/- 0,623106 microm(2)/ms. We found a significant correlation between ADC and gestational age (Pearson correlation = 0,816). CONCLUSION: The ADC values correlate with gestational age since alveolar fluid secretion and angiogenesis increase gradually. Therefore, ADC can be considered as a new parameter for studying lung maturity.

Potential role of fetal cardiac evaluation with magnetic resonance imaging: preliminary experience.

OBJECTIVE: To report our experience with magnetic resonance imaging (MRI) in fetal heart evaluation. METHOD: Two radiologists examined 31 MRI of fetuses with no ultrasound (US) evidence of cardio-thoracic anomalies. T2-weighted half-Fourier single-shot turbo spin-echo sequences were acquired for anatomic evaluation; fast imaging with steady-state free precession (TrueFISP) and cine-MR sequences with real-time steady-state free precession oriented like standard fetal echocardiographic projections were acquired for the characterization of cardiovascular morphology and function. RESULTS: In every case, MRI assessed the viscero-atrial situs. The four-chamber view and the short-axis view of the left ventricle were obtained in all fetuses, the long-axis view of the aortic arch in 28, the long-axis view of the ductus arteriosus in 17, the five-chamber view in 12, the long-axis of the left ventricle in 9, the three-vessel view in 7, the tricuspid-aortic view in 3, and the transverse view of the aortic arch and the angulated view of the arch and the ductus arteriosus simultaneously in 2 fetuses. CONCLUSION: Our preliminary experience demonstrates the feasibility to visualize the fetal heart with routine fetal MRI protocols in particular, by means of acquisition of TrueFISP imaging (morphological study) and real-time cine-MRI (dynamic study), potentially making MRI a second-level tool to add to fetal echocardiography in the prenatal study of congenital cardiac malformations.

MRI with diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) assessment in the evaluation of normal and abnormal fetal kidneys: preliminary experience.

OBJECTIVE: To investigate apparent diffusion coefficient (ADC) mapping with the measurement of renal tissue ADC value of normal and pathological fetal kidneys at various gestational ages (GAs). METHODS: Fifty pregnant women underwent magnetic resonance images (MRI) after ultrasound (US) for suspected fetal genitourinary disorders (16) or for suspected disorders in other organs (34). A multiplanar study of urinary system was obtained by using conventional T2-weighted sequences and echo planar imaging (EPI); Diffusion-weighted images and ADC maps were evaluated. The renal tissue ADC value was measured for all normal and abnormal fetuses and related to GA. RESULTS: MRI confirmed urinary anomalies in 15 fetuses [2 renal developmental variants, 2 nephropathies, 4 multicystic dysplastic kidneys (MCDK), 7 renal tract dilatations] and detected normal kidneys in the remaining 35 fetuses. Normal renal parenchyma showed bright signal on diffusion-weighted images with ADC values ranging from 1,065 to 1,327 microm(2)/s with a tendency to decrease over GA. A pathological ADC was detected in cases of bilateral MCDK, huge dilatations and in cases of nephropathies. CONCLUSION: Diffusion-weighted imaging (DWI) with ADC mapping can be used in the evaluation of fetal renal parenchyma and may become a tool of assessing function of the fetal kidney by means of measurement of renal tissue ADC values.