Imaging Review of Pediatric Monogenic CNS Vasculopathy with Genetic Correlation.

Monogenic cerebral vasculopathy is a rare but progressively recognizable cause of pediatric cerebral vasculopathy manifesting as early as fetal life. These monogenic cerebral vasculopathies can be silent or manifest variably as fetal or neonatal distress, neurologic deficit, developmental delay, cerebral palsy, seizures, or stroke. The radiologic findings can be nonspecific, but the presence of disease-specific cerebral and extracerebral imaging features can point to a diagnosis and guide genetic testing, allowing targeted treatment. The authors review the existing literature describing the frequently encountered and rare monogenic cerebral vascular disorders affecting young patients and describe the relevant pathogenesis, with an attempt to categorize them based on the defective step in vascular homeostasis and/or signaling pathways and characteristic cerebrovascular imaging findings. The authors also highlight the role of imaging and a dedicated imaging protocol in identification of distinct cerebral and extracerebral findings crucial in the diagnostic algorithm and selection of genetic testing. Early and precise recognition of these entities allows timely intervention, preventing or delaying complications and thereby improving quality of life. It is also imperative to identify the specific pathogenic variant and pattern of inheritance for satisfactory genetic counseling and care of at-risk family members. Last, the authors present an image-based approach to these young-onset monogenic cerebral vasculopathies that is guided by the size and predominant radiologic characteristics of the affected vessel with reasonable overlap. ©RSNA, 2024 Test Your Knowledge questions for this article are available in the supplemental material.

Natural history of Chiari I malformation with syrinx and dilatation of the central canal in the pediatric population: the CHEO experience.

PURPOSE: Given that syrinx is often considered an indication of surgery in children with Chiari I malformation (CM1), understanding of the natural history of these patients is very challenging. In this study, we investigate the natural history of children with CM1 that have syrinx and/or prominence of the central canal on presentation. METHODS: All pediatric Chiari I patients who had syrinx and/or prominence of the central canal who underwent MR imaging of the head and spine from 2007 to 2020 were reviewed. Patients were divided into 3 groups (early surgery, delayed surgery, and conservative management). We focused on those patients who did not initially undergo surgery and had at least 1 year of clinical follow-up. We assessed if there were any radiological features that would correlate with need for delayed surgical intervention. RESULTS: Thirty-seven patients met the inclusion criteria. Twenty-one patients were female and 16 were male. The mean age at presentation was 8.7 (5.8 SD). Fourteen (38%) patients had early surgical intervention, with a mean of 2.5 months after initial presentation, 8 (16%) had delayed surgery due to new or progressive neurological symptoms and 46% of patients did not require intervention during follow-up. The length of tonsillar herniation and the position of the obex were associated with the need of surgery in patients who were initially treated conservatively. CONCLUSION: In pediatric patients with CM1 with syringomyelia and prominence of the central canal, conservative treatment is initially appropriate when symptoms are absent or mild. Close follow-up of patients with CM1 and dilatation of the central canal who have an obex position below the foramen magnum and greater tonsillar herniation is suggested, as these patients show a trend towards clinical deterioration over time and may require earlier surgical intervention.

Intraoral healing type of pyogenic granuloma (A benign vascular tumor): A case report.

Pyogenic granulomas represent tumor-like lesions affecting the skin and the oral cavity. This classic definition can be somewhat misleading because such lesion is not associated with infection and lacks any clinical evidence of pus or histological evidence of actual granulation tissue. This case report describes a surgical excision of the growth to exclude angiomatous proliferation. The patient reported a chief complaint of localized gingival overgrowth since 4 months. Intraoral examination revealed an irregular, sessile exuberant growth in respect to labial aspect and interdental gingiva of 31, 32, and 33, measuring about 1.6 × 1.1 cm. Based on the clinical findings, the case was provisionally diagnosed as "pyogenic granuloma". A treatment was planned for the patient. A surgical excision was done irt 31, 32, 33, and the tissue was sent for histopathological examination, which was suggestive of a healing type of pyogenic granuloma.

Childhood Cerebral Vasculitis : A Multidisciplinary Approach.

Cerebral vasculitis is increasingly recognized as a common cause of pediatric arterial stroke. It can present with focal neurological deficits, psychiatric manifestations, seizures, and encephalopathy. The etiopathogenesis of childhood cerebral vasculitis (CCV) is multifactorial, making an inclusive classification challenging. In this review, we describe the common and uncommon CCV with a comprehensive discussion of etiopathogenesis, the role of various imaging modalities, and advanced techniques in diagnosing CCV. We also highlight the implications of relevant clinical, laboratory, and genetic findings to reach the final diagnosis. Based on the clinicoradiological findings, a stepwise diagnostic approach is proposed to facilitate CCV diagnosis and rule out potential mimics. Identification of key clinical manifestations, pertinent blood and cerebrospinal fluid results, and evaluation of central nervous system vessels for common and disease-specific findings will be emphasized. We discuss the role of magnetic resonance imaging, MR angiography, and vessel wall imaging as the imaging investigation of choice, and reservation of catheter angiography as a problem-solving tool. We emphasize the utility of brain and leptomeningeal biopsy for diagnosis and exclusion of imitators and masqueraders.

Comparative evaluation of the efficacy of amniotic membrane with collagen membrane along with demineralized freeze-dried bone allograft in the treatment of periodontal intrabony defects - A clinico-radiographic study.

Context: The use of human-derived amniotic barrier membranes in regenerative procedures along with allograft like demineralized freeze-dried bone allograft (DFDBA) has displayed promising outcomes. Aims: The objective of the current research was to clinically and radiographically evaluate and compare amniotic membrane (AM) and collagen membrane (CM) in combination with open flap debridement (OFD) along with DFDBA in the management of human periodontal intrabony defects. Settings and Design: The present research-based study was a randomized controlled clinical trial of 6 months duration. Materials and Methods: A total of twenty chronic periodontitis patients with intrabony defects were randomly divided into two groups: Group 1 treated with OFD + DFDBA + AM and Group 2 with OFD + DFDBA + CM. Clinical parameters such as plaque index (PI), gingival index (GI), pocket probing depth (PPD), and relative attachment level were recorded and evaluated at baseline, 3 months, and 6 months. The relative intrabony defect component level (rIBD) was recorded at baseline and after 6 months employing a millimeter X-ray grid. Statistical Analysis Used: For comparison of clinical parameters and radiographic parameters at various intervals unpaired t-test, repeated measures ANOVA test, and paired t-test were used. The P value was taken statistically significant when less than 0.05 (P < 0.05). Results: A statistically significant difference in PI, GI, PPD, and RAL for both the groups were found on intragroup comparison between baseline, 3 months, and 6 months (P < 0.05). On intragroup comparison, the difference in mean rIBD was statistically significant from baseline to 6 months. However, for all the clinical and radiographic parameters, no statistically significant difference was noted between both the groups (P > 0.05). Conclusions: In the treatment of intrabony defects AM being an allograft can be considered an alternative novel membrane for regenerative procedures.

Pediatric Chiari I malformation: novel and traditional measurements associated with syrinx and surgery.

PURPOSE: Multiple imaging parameters have been examined to estimate the presence of syrinx and the need for surgery in Chiari I patients (CM1); however, no consistent or definitive criteria have been proposed. The objective of this study was to review existing and identify novel radiological and clinical characteristics of CM1 patients that associate syrinx development and surgical intervention. METHODS: Patients with Chiari I malformation diagnosed on imaging between 0 and 18 years were retrospectively reviewed from January 1, 2007 to February 12, 2020. Participants were included if they had a baseline MRI of the head and spine prior to surgical intervention if required. Forty age-matched controls with cranial imaging were identified for comparison. Imaging parameters and clinical symptoms were recorded. RESULTS: A total of 122 CM1 patients were included in this study. Of the 122 patients, 28 (23%) had syrinx, and 27 (22%) had surgery. The following imaging parameters associated with syrinx and surgical intervention were identified: midbrain length (P < 0.001; P = 0.032), the obex position (P = 0.002; P < 0.001) and medullary kinking (P = 0.041; P < 0.001). Among the clinical features, the presence of overall pain (P = 0.017; P = 0.042), neck pain (P = 0.005; P = 0.027), and sensory dysfunction (P < 0.001) were found to be strongly associated with syrinx and surgery. CONCLUSION: While further investigation is needed, these specific radiological and clinical parameters should be considered when evaluating CM1 patients and may be used to guide further management.

Efficient and Scalable Object Localization in 3D on Mobile Device.

Two-Dimensional (2D) object detection has been an intensely discussed and researched field of computer vision. With numerous advancements made in the field over the years, we still need to identify a robust approach to efficiently conduct classification and localization of objects in our environment by just using our mobile devices. Moreover, 2D object detection limits the overall understanding of the detected object and does not provide any additional information in terms of its size and position in the real world. This work proposes an object localization solution in Three-Dimension (3D) for mobile devices using a novel approach. The proposed method works by combining a 2D object detection Convolutional Neural Network (CNN) model with Augmented Reality (AR) technologies to recognize objects in the environment and determine their real-world coordinates. We leverage the in-built Simultaneous Localization and Mapping (SLAM) capability of Google's ARCore to detect planes and know the camera information for generating cuboid proposals from an object's 2D bounding box. The proposed method is fast and efficient for identifying everyday objects in real-world space and, unlike mobile offloading techniques, the method is well designed to work with limited resources of a mobile device.

Cerebellar Metastasis From Thyroid Carcinoma With Prominent 123 I Uptake But Less Impressive MRI Findings in a Pediatric Patient.

ABSTRACT: Papillary thyroid carcinoma in childhood frequently presents with locoregional lymph node metastases. The distant metastases often involve lungs and the bone, whereas brain metastasis is rare. We report a case of classic variant-papillary thyroid carcinoma with right cerebellar metastasis in a 7-year-old girl on a 123 I SPECT/CT study. A brain MRI on the same day shows a tiny millimetric enhancing nodule in the right cerebellum with no perceivable perilesional edema, confirming the 123 I scan findings.

Pediatric Petrous Apex Lesions: A Radiological Classification and Diagnostic Algorithm.

The petrous apex (PA) is involved in a myriad of pathological conditions, some of which are exclusive in children. Diagnosis may be difficult due to vague clinical presentation, and local examination is challenging owing to its inaccessible location. This is further complicated by multiple unfused sutures and ongoing PA pneumatization in children. Cross-sectional imaging is vital for the evaluation of the PA lesions, due to their precarious location and proximity to the major neurovascular structures. Several classification systems have been proposed for these lesions based on their site of origin, solid or cystic appearance, surgical or non-surgical (no touch lesions) management, and benign or malignant nature. In this article, we emphasize the distinctive role of different cross-sectional imaging modalities in the diagnosis of pediatric PA lesions, with special attention to normal variants that should not be mistaken for pathology. We also propose a radiological classification and algorithmic approach to aid in the precise diagnosis and facilitate appropriate management of the various PA lesions in children.

Atypical exophytic liver mass: Giant pedunculated hepatic haemangioma masquerading as a gastrointestinal stromal tumour of the gastric wall.

Haemangioma is the most common benign tumour of the liver. However, an exophytic hepatic haemangioma, especially the pedunculated form, is very rare. Giant pedunculated haemangiomas are prone to complications because of the narrow size of the pedicle. A large number of lesions can potentially present as exophytic liver masses, and accurate diagnosis can sometimes be challenging. We report a case of an incidentally discovered asymptomatic giant pedunculated liver haemangioma in the region of the lesser sac in a prospective renal donor, which was initially suspected to be a gastrointestinal stromal tumour of the stomach wall. Multiphasic computed tomography and confirmatory magnetic resonance imaging scans ultimately revealed the true nature of the lesion, which turned out to be an exophytic pedunculated hepatic haemangioma from the left lobe of the liver. The lesion was then surgically resected and histopathologically confirmed to be a haemangioma. The patient subsequently underwent successful renal donation as planned. Being a benign lesion with characteristic imaging features, accurate radiological diagnosis is absolutely essential for the appropriate management of such atypical haemangiomas.

Comparison of dynamic contrast-enhanced and diffusion weighted magnetic resonance image in staging and grading of carcinoma bladder with histopathological correlation.

BACKGROUND: Bladder cancer is the second most common neoplasm of the urinary tract worldwide. Dynamic contrast-enhanced and diffusion-weighted MRI has been introduced in clinical MRI protocols of bladder cancer because of its accuracy in staging and grading. AIM: To evaluate and compare accuracy of Dynamic contrast enhanced (DCE) and Diffusion weighted (DW) MRI for preoperative T staging of urinary bladder cancer and find correlation between apparent diffusion coefficient (ADC) and maximum enhancement with histological grade. MATERIALS AND METHODS: Sixty patients with bladder cancer were included in study. All patients underwent Magnetic Resonance Imaging (MRI) on a 1.5-T scanner with a phased-array pelvic coil. MR images were evaluated and assigned a stage which was compared with the histolopathological staging. ADC value and maximum enhancement curve were used based on previous studies. Subsequently histological grade was compared with MR characteristics. RESULTS: The extent of agreement between the radiologic staging and histopathological staging was relatively greater with the DW-MRI (κ=0.669) than DCE-MRI (κ=0.619). The sensitivity, specificity, and accuracy are maximum and similar for stage T4 tumors in both DCEMRI (100.0, 96.2 and 96.7) and DW-MRI (100.0, 96.2 and 96.7) while minimum for stage T2 tumors - DCEMRI (83.3, 72.2, and 76.7) and DWI-MRI (91.7, 72.2, and 80). CONCLUSION: MRI is an effective tool for determining T stage and histological grade of urinary bladder cancers. Stage T2a and T2b can be differentiated only by DCE-MRI. Results were more accurate when both ADC and DCE-MRI were used together and hence a combined approach is suggested.