Hand Radiographs in Skeletal Dysplasia: A Pictorial Review.

Skeletal dysplasias or osteochondrodysplasias comprise a large heterogeneous group of genetic disorders and possess significant overlap on imaging, which adds to the dilemma of the reporting radiologist. These entities are routinely evaluated with a detailed skeletal survey and hand radiographs form a crucial part of a complete survey. Certain conditions have characteristic imaging findings that enable a diagnosis be made on hand radiograph alone. Additionally, hand radiographs may also demonstrate findings that may be suggestive of a particular diagnosis/differential diagnoses and would warrant further assessment for proving the same. We aim to demonstrate the use of hand radiographs in diagnosis of various such entities through this review. Although they cannot replace a complete skeletal survey in the diagnosis, hand radiographs performed for other indications might alert a radiologist to the diagnosis of an unsuspected skeletal dysplasia.

Benign paediatric liver tumours: The radiological maze demystified.

The trajectory from the clinical identification of a benign liver mass to establishing a precise diagnosis is perplexing and arduous. Related contributory factors are that such lesions are encountered infrequently and that there is a nonavailability of dedicated paediatric radiologists in the developing world. The objective of this study was to review the spectrum of benign liver lesions in children and their typical imaging features. Cross-sectional imaging of all paediatric patients (< 18 years) with liver lesions (single and multiple) performed in the institute from 01 January 2018 to 01 January 2019 as well as those acquired at outside institutions and referred to the institute for management was included. Ultrasound was done as the first line of investigation in all the cases with suspicious liver masses and retrospectively performed in referral cases in whom CT or MRI was already done. Images were analysed by two senior radiologists. Most of the cases were diagnosed based on clinical, biochemical and imaging findings, and biopsy was only performed in equivocal cases. Most of the benign liver lesions in the paediatric age group were hepatic haemangioma and mesenchymal hamartomas. A simplified clinical-radiologic paradigm should be established for benign liver lesions in children to assist in reaching the correct diagnosis. Contribution: The article demonstrates the salient radiological findings of various benign liver lesions in the paediatric age group and the role of demographic, clinical and biochemical findings, which plays a substantial role in the diagnosis and avoids unnecessary biopsies.

Multimodality imaging of diseases of the vagina.

Pathologies of the vagina are important causes of symptoms related to the genital tract in women. They can be missed on transabdominal ultrasonography (USG), which is the baseline modality used for evaluation of gynaecological complaints. Transperineal USG and MRI are the imaging modalities of choice for evaluation of the vagina. Diseases of the vagina can be grouped depending upon the age group in which they occur. In children and young adults, congenital anomalies like longitudinal or transverse vaginal septum, imperforate hymen, vaginal aplasia or atresia, and rectovaginal fistula can be seen. Malignant tumours can rarely occur in children, rhabdomyosarcoma being the most common one. Common diseases affecting adults include benign lesions like epidermoid, Gartner duct, and Bartholin cysts, and urogenital fistulas involving the vagina. Endometriosis and other benign tumours of vagina including leiomyoma, fibroepithelial polyp, and angiomyxoma are occasionally seen. Malignant tumours can be primary, the most common one being squamous cell carcinoma, or secondary, due to direct extension from cancers involving the adjacent organs. Characteristic morphological changes occur in the vagina after radiotherapy, which can be identified on imaging. Knowledge about the imaging appearances of these diseases is crucial in guiding appropriate management.

Ultrasound in Causes of Stridor in Children.

Airway ultrasound (US) is an easily available, portable, radiation-free imaging modality for quick, non-invasive, dynamic evaluation of the airway without sedation. This is useful in children with stridor, which is an emergency due to upper airway obstruction requiring immediate management. Several causes of stridor including laryngomalacia, laryngeal cyst, subglottic hemangioma, vocal cord palsy, and lymphatic malformations can be evaluated accurately. Thin musculature and unossified cartilages in children provide a good acoustic window. Thus, airway US is valuable, but underutilized for the evaluation of children with stridor. In this case-based review, we describe the technique, indications, anatomy, and pathologies on airway US.

Comparison of HASTE versus EPI-Based DWI for Retinoblastoma and Correlation with Prognostic Histopathologic Parameters.

BACKGROUND AND PURPOSE: Non-EPI-based DWI has shown better performance in head and neck pathologies owing to lesser susceptibility artifacts compared with EPI-DWI. However, only sporadic studies have investigated the feasibility of non-EPI-based DWI in retinoblastoma (RB). We qualitatively and quantitively compared EPI-DWI and HASTE-DWI in RB and correlated the tumor ADC values obtained from these 2 techniques with histopathologic markers. MATERIALS AND METHODS: Twenty-one treatment-naive patients with RB underwent 1.5T orbital MR imaging. EPI-DWI and HASTE-DWI were acquired at 3 b-values (0, 500, and 1000 s/mm2). All patients subsequently underwent surgical enucleation. For qualitative image assessment, scoring of overall image quality, artifacts, tumor sharpness, and tumor conspicuity was done by using a 5-point Likert scale. Quantitative assessment included calculations of SNR, contrast-to-noise ratio (CNR), geometric distortion, and ADC. Qualitative scores were compared by using the Wilcoxon signed-rank test, and quantitative parameters were analyzed with a t test. RESULTS: All 21 patients had unilateral RB; 15 were male and 6 were female with a median age of 36 months (range, 9-72 months). On histopathology, patients had either poorly differentiated (n = 13/21) or moderately differentiated (n = 8/21) RB. Other poor prognostic markers evaluated were optic nerve invasion (n = 10/21), choroidal invasion (n = 12/21), and anterior eye segment enhancement on MRI (n = 6/21). HASTE-DWI demonstrated higher image quality scores than EPI-DWI (P < .01), except for tumor conspicuity score, which was higher for EPI-DWI (P < .001). HASTE-DWI showed lower SNR, CNR, and geometric distortion than EPI-DWI (P < .001). The average acquisition times of EPI-DWI and HASTE-DWI were ∼1 and 14 minutes, respectively. The mean tumor ADC value on EPI-DWI was 0.62 ± 0.14 × 10-3 mm2/s and on HASTE-DWI was 0.83 ± 0.17 × 10-3 mm2/s. A significant correlation between EPI-DWI and HASTE-DWI ADC values (r = 0.8; P = .01) was found. Lower ADC values were found in tumors with poor prognostic markers, but none reached a statistically significant difference. CONCLUSIONS: HASTE-DWI shows improved overall image quality; however, it lacks in terms of tumor conspicuity, SNR, CNR, and longer acquisition time compared with EPI-DWI. ADC values derived from HASTE-DWI show no advantage over EPI-DWI in correlation with histopathologic prognostic markers.

Serum Adipokines as Biomarkers for Surveillance of Metabolic Syndrome in Childhood Acute Lymphoblastic Leukemia Survivors in Low Middle-Income Countries.

BACKGROUND: Serum adipokines (leptin and adiponectin) are dysregulated before the onset of metabolic syndrome and hence may be useful biomarkers for screening of cardiometabolic late effects in childhood Acute Lymphoblastic Leukemia (cALL) survivors. METHODS: We compared serum adipokine levels between 40 cALL survivors (aged 10-18 years, >2 years from treatment completion) with similar controls. A multivariable logistic regression analysis was then done to assess the association of metabolic syndrome in cALL survivors with variables including adipokines and other metabolic parameters, demographic and treatment details, and Dual-energy X-ray absorptiometry scan-derived variables. RESULTS: Compared to controls, cALL survivors had a higher prevalence of metabolic syndrome (8/40 vs. 2/40, P = .044) and central obesity (11/40 vs. 4/40, P = 0.042). Median Serum Leptin (7.39 vs. 4.23 ng/ml, P = 0.207) levels and derived Leptin-Adiponectin Ratio (1.44 vs. 0.80, P = 0.598), were higher but not statistically different in our survivors compared to controls; Adiponectin levels were similar (6.07 vs. 5.01 µg/ml, P = 0.283). In the cALL survivors, overweight/obesity (odds ratio [OR] 21.9, P = 0.020) or higher Leptin levels (OR 1.11, P = 0.047), were independently associated with metabolic syndrome. CONCLUSIONS: Serum Leptin, independently predictive of metabolic syndrome in our cALL survivors, may be tested in larger studies to assess its utility in surveillance and initiation of early preventive measures.

Unusual case of 'scorbutic proptosis'.

Proptosis is a frequent presenting symptom/sign of many paediatric malignancies. Acute-onset proptosis is an ophthalmic emergency that can endanger vision if not treated promptly. Appropriate treatment must be instituted only after investigating for the underlying aetiology. Here, we report a developmentally delayed boy in middle childhood who presented with recent onset bilateral proptosis. Clinical examination followed by radiological evaluation suggested scurvy to be the underlying cause and vitamin C supplementation led to prompt reversal of proptosis. The relevant literature has been reviewed and presented here to apprise the paediatric oncologists about this rare but easily treatable cause of proptosis.

Intramural Duodenal Hematoma in a Case of Hyper IgM Syndrome.

Three-year-old boy who presented with colicky abdominal pain, diarrhoea and vomiting was investigated with computed tomography which revealed a mass in the peripancreatic region. An imaging possibility of duodenal intramural hematoma was considered after reassessment with ultrasound which was subsequently confirmed by magnetic resonance imaging. The development of a spontaneous duodenal hematoma lead to further evaluation of the patient and revealed X linked hyper IgM syndrome.

Minimally invasive autopsy in the evaluation of fetal malformations and stillbirths: A feasibility study.

BACKGROUND: Minimally invasive autopsy (MIA) using post-mortem magnetic resonance imaging with ancillary investigations is reported as accurate as conventional autopsy. This study assesses MIA's feasibility and accuracy compared to conventional autopsy. METHOD: MIA and/or conventional autopsy were performed on malformed fetuses (14-20 weeks gestation) and stillbirths (>20 weeks gestation), with/without malformation. Concordance in diagnostic accuracy (95% confidence interval [CI]) and agreement (Kappa coefficient [k]) were assessed in malformed cases where both MIA and autopsy were conducted. RESULTS: We enrolled 200 cases, including 100 malformed fetuses (<20 weeks) and 100 stillbirths (with/without malformations). Concordance of 97.3% was observed between MIA and autopsy in 156 malformed cases. The overall diagnostic accuracy of MIA was 96.04%. CONCLUSION: While conventional autopsy remains the gold standard, MIA is feasible in tertiary care settings. It can be considered a potential alternative for post-mortem assessment, particularly in settings with limited facility of conventional autopsy and parental refusal.

Liver Metastasis from Nasopharyngeal Carcinoma Diagnosed on Fine Needle Aspiration Cytology.

A 12-year-old boy presented with abdominal distention for 1 year. On examination, he had massive hepatomegaly. Facial swelling in the maxillary region, palpable left cervical lymph nodes, and a nasal twang to his voice were detected. Imaging showed multiple hypodense liver lesions, necrotic mediastinal and hilar lymph nodes, multiple lytic-sclerotic skeletal lesions, and lesions in the nasopharynx and maxilla. Fine needle aspirate (FNA) from the cervical lymph node yielded blood. FNA from the liver showed singly dispersed and cohesive clusters of tumor cells, with interspersed neutrophils and tingible body macrophages. Cells had scant to moderate fragile cytoplasm, enlarged vesicular nuclei, and prominent nucleoli. Immunohistochemistry on cell block revealed positivity for cytokeratin and Epstein-Barr virus (EBV)-Latent Membrane Protein-1 (LMP1). A diagnosis of metastatic nasopharyngeal carcinoma was made, and was confirmed on a subsequent biopsy from the femur.

Comparison of Protocol-Based Continuous and Intermittent Tube Feeding in Mechanically Ventilated Critically Ill Children - An Open Label Randomized Controlled Trial.

OBJECTIVES: To compare the time taken to reach the target calories and proteins by protocol based "continuous tube feeding (CTF)" and "intermittent tube feeding (ITF)" in critically ill children. METHODS: This trial was conducted in the Pediatric Intensive Care Unit (PICU) of a tertiary care institute. Eligible children were randomized to receive CTF or ITF. Target calories were defined as 70% of calorie amount as per the WHO formula and target protein was defined as 1.5 g/kg as per the American Society of Parenteral and Enteral Nutrition (ASPEN) criteria. The primary outcome was time taken to reach target calories, the secondary outcomes were time taken to reach target protein, incidence of feed intolerance, PICU mortality, duration of ventilation, and outcome on 28th day. RESULTS: Fifty-eight children were randomized; 29 in each group. The baseline characters were comparable. The median (IQR) times for reaching target calories were 1.7 (1.4, 2.5) d and 1.8 (1.4, 4.4) d in the CTF and ITF groups, respectively [Hazards ratio (HR) 0.89 (95% CI 0.5, 1.5); p = 0.69]. For the target protein intake, the median times were comparable in the 2 groups [HR 0.82 (95% CI 0.4-1.5); p = 0.55]. The other outcomes were not significantly different between the groups. CONCLUSIONS: The authors did not observe any difference in the time taken to reach target calories and protein between the two different modes of delivery of enteral nutrition.

MDCT and MRI in Bronchiectasis in Older Children and Young Adults - A Non-Inferiority Trial.

OBJECTIVES: To compare and evaluate the usefulness of magnetic resonance imaging (MRI) with computed tomography (CT) in bronchiectasis; to compare MRI and CT scores with pulmonary function tests (PFT) and to evaluate the role of Diffusion-weighted imaging (DWI) in bronchiectasis. METHODS: In this prospective study, 25 patients between 7-21 y of age with a clinical/radiological diagnosis of bronchiectasis underwent MDCT and MRI chest. MRI and CT scoring was performed using modified Bhalla-Helbich's score by two independent radiologists for all parameters. A final consensus score was recorded. The overall image quality of different MRI sequences to identify pathologies was also assessed. Appropriate statistical tests were used for inter-observer agreements, and correlation amongst CT and MRI; as well as CT, MRI and PFT. RESULTS: Strong agreement (ICC 0.80-0.95) between CT and MRI was seen for extent and severity of bronchiectasis, number of bullae, sacculation/abscess, emphysema, collapse/ consolidation, mucus plugging, and mosaic perfusion. Overall CT and MRI scores had perfect concordance (ICC 0.978). Statistically significant (p-value <0.01) intra-observer and inter-observer agreement for all CT and MRI score parameters were seen. A strong negative correlation was seen between total CT and MRI severity scores and forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), forced expiratory flow (FEF) 25-75%. DWI MR, with an apparent diffusion coefficient (ADC) cut-off of 1.62 × 10-3 mm3/s had a sensitivity of 70% and specificity of 75% in detecting true mucus plugs. CONCLUSIONS: MRI with DWI can be considered as a radiation-free alternative in the diagnostic algorithm for assessment of lung changes in bronchiectasis, especially in follow-up.

Multiple neural tube defects: rare developmental anomaly with an elusive embryological explanation.

Neural tube defect is a congenital anomaly resulting from the failure of fusion of the neural folds in the midline which occurs in the third and the fourth week of embryonic development. These defects can occur at any of the three embryological stages-gastrulation, primary neurulation and secondary neurulation. Presence of neural tube defects at multiple (two or more) sites along the craniospinal axis is an extremely rare anomaly and the management depends on clinical as well as imaging findings. These multiple defects are not well explained by the "Zipper closure" theory and can be better explained by the "Multisite closure theory", which will be highlighted in this manuscript. Few of these multiple site anomalies cannot be fully explained even by the multisite closure theory and more research is needed to decipher this entity.

Ultrasound and magnetic resonance imaging in thoracic tuberculosis in the pediatric population: moving beyond conventional radiology.

Imaging is crucial in the diagnostic work-up and follow-up after treatment in children with thoracic tuberculosis (TB). Despite various technological advances in imaging modalities, chest radiography is the primary imaging modality for initial care and in emergency settings, especially in rural areas and where resources are limited. Ultrasonography (US) of the thorax in TB is one of the emerging applications of US as a radiation-free modality in children. Magnetic resonance imaging (MRI) is the ideal radiation-free, emerging imaging modality for thoracic TB in children. However, only limited published data is available regarding the utility of MRI in thoracic TB. In this pictorial review, we demonstrate the use of US and rapid lung MRI in evaluating children with thoracic TB, specifically for mediastinal lymphadenopathy and pulmonary complications of TB.

Can Whole-Body Magnetic Resonance Imaging Predict Relapse in Juvenile Idiopathic Arthritis? A Longitudinal Pilot Study.

OBJECTIVE: To determine the utility of whole-body magnetic resonance imaging (WB MRI) to predict relapse in children with juvenile idiopathic arthritis (JIA) in clinical remission. METHODS: Consecutive patients with JIA who fulfilled the Wallace criteria for remission were recruited into this longitudinal pilot study and underwent WB MRI. A radiological score was devised, incorporating synovitis, bone marrow edema, sacroiliitis, enthesitis, and bone erosions. Two readers independently scored the MR data sets. The same score was calculated for both knee joints individually and correlated with outcome for that joint. Score-based models incorporating clinical and laboratory variables were generated. Logistic regression analysis was done to determine predictors for relapse. Receiver operating characteristic curve was drawn for significant variables. RESULTS: Twenty-two children (median age, 12 years; interquartile range, 9.5-14.25 years) were included in the final analysis. At 24 months' follow-up, 15 joints in 5 children relapsed; knee was the most common site. Seven knee joints had disease relapse. On univariate analysis, synovitis and total score on WB MRI were significant predictors of relapse at follow-up, with odds ratios of 9.46 (bias-corrected 95% confidence interval, 3.07-29.13) and 2.8 (bias-corrected 95% confidence interval, 1.23-6.39) respectively. Two models, which included a higher number of joints involved at presentation and abrupt drug withdrawal strategy as predictor variables, were also statistically significant (odds ratio, approximately 1.9). On multivariate analysis of the predictors variables in models where p < 0.6, it was found that only synovitis score and total score were near statistical significance ( p = 0.06); no clinical or laboratory variables were significant. The areas under the receiver operating characteristic curve for relapse prediction were approximately 0.82, 0.87, 0.79, and 0.81 for synovitis score, total MRI score, and both models, respectively. CONCLUSION: Synovitis on WB MRI is the strongest independent predictor for disease relapse in children with JIA in remission.

Diagnostic accuracy of whole-body magnetic resonance imaging versus positron emission tomography-computed tomography for the staging of pediatric lymphoma: a systematic review and meta-analysis.

BACKGROUND: Whole-body magnetic resonance imaging (MRI) has been investigated by multiple authors as a radiation-free alternative to positron emission tomography computed tomography (PET-CT) in children with lymphoma. OBJECTIVE: To evaluate the sensitivity, specificity, and diagnostic odds ratio of whole-body MRI compared to PET-CT for the staging of pediatric lymphoma. METHODS: The databases PubMed, Embase, and Scopus were searched for studies that reported the accuracy of whole-body MRI compared to PET-CT for lymphoma staging in children. Data was collected from included studies to formulate 2 × 2 contingency tables, including the number of true positive, true negative, false positive, and false negative. The pooled sensitivity, specificity, and diagnostic odds ratio (DOR) were calculated. Summary receiver operating characteristic curves were drawn and the area under the curve (AUC) calculated. In addition, the Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS 2) tool was used to assess the risk of bias and applicability concerns. RESULTS: A total of seven studies were included in the final analysis. Of these, six studies used unenhanced whole-body MRI. The pooled sensitivity of whole-body MRI-based staging was 95.8%, while the pooled specificity was 21.8%. The DOR for whole-body MRI was 1.19. For extranodal staging, the pooled sensitivity was 88.9%, specificity was 97.4%, and DOR was 25.29. The partial AUC for overall staging was 0.63, whereas that for extranodal staging stood at 0.88. Based on the QUADAS 2 tool, all seven studies were at risk of bias (six at high risk, one at unclear risk). CONCLUSION: Whole-body MRI has high sensitivity for staging of pediatric lymphoma and may be a useful alternative to PET-CT.

Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader.

OBJECTIVES: To evaluate the natural history and to highlight the possible masqueraders causing diagnostic delay and iatrogenic interventions in Fibrodysplasia Ossificans Progressiva (FOP). METHODS: Patient details with suspected FOP were retrieved from the patient registry from 2012 through 2021. Clinical records, X-rays, clinical photographs, and molecular testing results were captured. Follow-up was recorded where available. RESULTS: A total of 16 patients with a clinical diagnosis of FOP were found. Twelve patients with both clinical and molecular records were included in this study. The median age of onset and diagnosis was 1.5 y and 6.5 y respectively with a median diagnostic delay of 3.5 y. The disease course was progressive in ten patients. Seven out of twelve patients were subjected to invasive procedures due to misdiagnosis, which exacerbated their disease progression. CONCLUSIONS: Clinical suspicion followed by molecular testing is straightforward for a confirmed diagnosis of FOP. It is not only diagnostic, cost-effective, and saves time but also avoids unnecessary interventions in these patients.