Case of embryonal tumor multilayered rosettes in a patient with neurofibromatosis type 1.

BACKGROUND: ETMR is a unique and highly malignant brain tumor mostly occurring in infants. This report provides a comprehensive overview of the clinical presentation, histological aspects, radiological features, and therapeutic options of ETMR. Being the first report on the co-occurrence of NF1 with ETMR, it highlight the challenges of managing a patient with complex medical conditions. CASE REPORT: We present a case of a 3 and 1/2-year-old girl with neurofibromatosis type 1 (NF1), later diagnosed with a supratentorial brain tumor reported as an embryonal tumor with multilayered rosettes (ETMR), along with possible co-occurrence of constitutional mismatch repair deficiency (CMMRD) on immunohistochemistry (IHC); however, germline testing was not performed. Even though NF1 can be associated with tumors such as gliomas, the literature has no previous case reports of ETMR coexisting with NF1. CONCLUSION: Exploring the link between NF1 and ETMR with CMMRD is crucial to improving and establishing more treatment protocols. Therefore, reporting each case's unique features would be essential in developing appropriate treatment protocols.

Capacity building for pediatric neuro-oncology in Pakistan- a project by my child matters program of Foundation S.

Introduction: Initiated in June 2019, this collaborative effort involved 15 public and private sector hospitals in Pakistan. The primary objective was to enhance the capacity for pediatric neuro-oncology (PNO) care, supported by a My Child Matters/Foundation S grant. Methods: We aimed to establish and operate Multidisciplinary Tumor Boards (MTBs) on a national scale, covering 76% of the population (185.7 million people). In response to the COVID-19 pandemic, MTBs transitioned to videoconferencing. Fifteen hospitals with essential infrastructure participated, holding monthly sessions addressing diagnostic and treatment challenges. Patient cases were anonymized for confidentiality. Educational initiatives, originally planned as in-person events, shifted to a virtual format, enabling continued implementation and collaboration despite pandemic constraints. Results: A total of 124 meetings were conducted, addressing 545 cases. To augment knowledge, awareness, and expertise, over 40 longitudinal lectures were organized for healthcare professionals engaged in PNO care. Additionally, two symposia with international collaborators and keynote speakers were also held to raise national awareness. The project achieved significant milestones, including the development of standardized national treatment protocols for low-grade glioma, medulloblastoma, and high-grade glioma. Further protocols are currently under development. Notably, Pakistan's first pediatric neuro-oncology fellowship program was launched, producing two graduates and increasing the number of trained pediatric neuro-oncologists in the country to three. Discussion: The initiative exemplifies the potential for capacity building in PNO within low-middle income countries. Success is attributed to intra-national twinning programs, emphasizing collaborative efforts. Efforts are underway to establish a national case registry for PNO, ensuring a comprehensive and organized approach to monitoring and managing cases. This collaborative initiative, supported by the My Child Matters/Foundation S grant, showcases the success of capacity building in pediatric neuro-oncology in low-middle income countries. The establishment of treatment protocols, fellowship programs, and regional tumor boards highlights the potential for sustainable improvements in PNO care.

Pulmonary barotrauma as a complication of mechanical ventilation for management of COVID-19 associated acute respiratory distress syndrome (CARDS).

Objectives: To identify that incidence of pulmonary barotrauma secondary to mechanical ventilation for the management of acute respiratory distress syndrome associated with coronavirus-disease-2019, and to compare it with the incidence of pulmonary barotrauma trauma secondary to mechanical ventilation associated with all the other causes. METHODS: The retrospective case-control study was conducted at the Aga Khan University Hospital, Karachi, and comprised data from October 2020 to March 2021 of patients who underwent mechanical ventilation. The data was divided into two groups. Data of acute respiratory distress syndrome associated with coronavirus-disease-2019 was in group 1, and that of acute respiratory distress syndrome associated with any other cause in control group 2. Medical records were reviewed to obtain demographic and clinical data, while the institutional picture archiving and communication system was used to review radiological images. Data was analysed using SPSS 24. RESULTS: Of the 261 cases, 115(44%) were in group 1; 87(75.6%) males and 28(24.3%) females. There were 146(56%) controls in group 2; 96(65.7%) males and 50(34.2%) females. There were 142(54.4%) subjects aged >60 years; 61(43%) in group 1 and 81(57%) in group 2. The incidence of pulmonary barotrauma in group 1 was 39(34%) and 8(5.5%) in group 2 (p<0.0001). CONCLUSIONS: Mechanical ventilation in the management of acute respiratory distress syndrome associated with coronavirusdisease- 2019 was found to be associated with a significantly higher incidence of pulmonary barotrauma than acute respiratory distress syndrome associated with any other cause.

Pediatric craniopharyngioma: a 20-year study on epidemiological features, clinical presentation, and survival outcomes in a tertiary care center from LMIC.

INTRODUCTION: Craniopharyngioma constitutes approximately 10% of primary brain tumors in children. It can cause considerable morbidity and mortality due to the local aggressiveness of the tumor itself or its management affecting the hypothalamus-pituitary axis and optic pathway involvement. There is very scarce data available from LMIC which makes the management controversial where multidisciplinary teams are already not available in most of the centers. This is a single-center cross-sectional retrospective review of 20-year record of 49 patients with craniopharyngioma treated between 2001 and 2020 at Aga Khan University Hospital, a tertiary care center in Karachi, Pakistan. METHODS: We have assessed the epidemiological data of children presenting with the diagnosis of craniopharyngioma, treatment modalities used, and neurological, endocrine, and hypothalamic complications in these patients. The assessment involved a retrospective review of medical records and medical follow-up. RESULTS: Out of a total of 49 patients, 26 (53%) were male, and 23 (46.9%) were female. The mean age was 9.5 years (SD ± 4.5 years). Most common symptoms at initial presentation were headache 41 (83.6%), visual deficit 40 (81.6%), nausea and vomiting 26 (53%), and endocrine abnormalities 16 (32%). Treatment modalities used at our center include gross total resection 11 (22%) and subtotal resection 38 (77%) out of total, while 6 (12.2%) patients received intracystic interferon. Histopathologic findings of the majority of patients (40 (81%)) revealed an adamantinomatous type of tumor. Only 23 (46.9%) children followed in clinic post-op. Median follow-up after craniopharyngioma presentation was 5 years (± 2.1 SD, range: 2-10 years). Pituitary hormone deficiencies (98%) and visual disturbances (75%) were the most common long-term health conditions observed. CONCLUSIONS: Since pituitary hormone deficiencies and visual disturbance were the most common long-term health conditions observed in our study, these patients require a multidisciplinary team follow-up to improve their quality of life.

Knowledge assessment of radiologists, radiology residents, and radiographers regarding contrast materials and management of adverse drug reactions occurring due to contrast materials: a cross-sectional study.

The purpose of this study was to assess the knowledge of the radiology personnel regarding contrast media used in radiology and the management of associated adverse drug reactions. Methods: A questionnaire-based cross-sectional study was conducted from 21 February to 31 March 2019 in five major hospitals of Peshawar, Pakistan. A 30-item questionnaire was adopted from the existing literature containing both open and closed-ended questions and the authors conducted a pilot study among 25 participants to assess the face validity of the tool. A universal sampling technique was adopted. Descriptive statistics were used to summarize the findings of the study. Results: Less than half of the participants could correctly classify iodinated contrast media used in radiology on the basis of ionicity and osmolaity. Sixty-three percent chose severe contrast material-induced allergic reaction as type I hypersensitivity reaction while almost half of them correctly identified the features of iodinated contrast media associated with lesser side effects. Very few of them (6.7%) had read the ACR 2018 manual on contrast media. Regarding the risk factors for acute adverse reactions and signs/symptoms of anaphylaxis few could answer satisfactorily. Twenty-eight percent of participants correctly identified epinephrine as the initial medication in an anaphylactic reaction. Regarding the preferred route of administration, concentration and dose of epinephrine, the participants' correct response was quite poor (43.8%, 6.7%, and 8.6%, respectively). More than 65% of participants could name a single intravenous corticosteroid and antihistamine. Conclusion: Radiology personnel's knowledge regarding contrast material and management of severe contrast material-induced allergic reactions is unsatisfactory.

Magnetic resonance imaging grading of pituitary macroadenoma - SIPAP classification revisited.

Background: Magnetic resonance imaging (MRI) is regarded as the modality of choice in diagnosis of pituitary macroadenomas. Since surgery is the first line therapy for all pituitary adenomas, simple and reproducible MRI classification based on major directions of tumour growth is an essential tool. SIPAP MRI classification for pituitary adenoma describes tumor extension in parasellar, suprasellar, infrasellar, anterior and posterior directions. We, therefore, evaluated reproducibility of SIPAP classification in reporting of pituitary adenomas. Methods: Forty-nine patients with biopsy-proven pituitary macroadenoma were graded according to SIPAP classification. Data was analyzed using Stata version 15. Interobserver variability was calculated using Cohen's Kappa. Comparison between grading before and after treatment was performed by Chi-square test. P values < 0.05 were considered statistically significant. Results: Individual tumour extensions according to SIPAP for pre- and post-operative grading showed significant difference (p-value <0.001), except for anterior extension. For suprasellar extension, 67.3 % patients had pre-operative grade-3 and 63.3 % had post-operative grade-0. For infrasellar extension, 51.0 % had pre-operative grade-2 and 71.4 % had post-operative grade-0. Anterior, posterior and parasellar extensions showed increased frequency in grade-0 in post-operative stage compared to pre-operative. Substantial inter-observer agreement was achieved for Superior, Inferior, Anterior and Posterior extent with all Kappa statistics values above 0.7 (p-value <0.001). Conclusion: We propose incorporating simple and objective SIPAP classification in routine MR reporting for ideal pituitary tumour delineation, relationship to juxtasellar structures and tumour size, hence facilitating greater success rate in surgical and subsequent clinical management.

Assessment of the normal pediatric pineal gland - MR findings of a single centre; A retrospective study.

OBJECTIVE: To analyse the size and morphology of the normal pineal gland in the paediatric age group using magnetic resonance imaging. METHODS: The retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised data of patients aged <18 years who had magnetic resonance imaging done between 2007 and 2017. Pineal size was estimated measuring its largest anteroposterior and supero-inferior diameters on sagittal T2-weighted sequences on any slice with maximal diameter. The width of pineal gland was measured on axial or coronal T2 sequences. The volume, morphology and enhancement patterns of the gland were also assessed. Data was analysed using SPSS 21. RESULTS: Of the 200 patients, 116(58%) were males and 84(42%) were females. The overall mean age was 7.8±5.5 years. The mean anteroposterior dimension was 4.85±1.46mm, height 3.31±0.95mm, width 4.16±1.19, and volume 39.54±38.12 mm3. Mean size of cyst was 2.77±1.4mm (range: 1.2-7.5mm). No significant differences in the pattern of enhancement were found in different age groups (p>0.05). CONCLUSIONS: Comprehensive knowledge of the size of the typical pineal organ is useful for radiologists in the identification of pineal gland anomalies and the exclusion of neoplastic lesions.

Cardiac hydatid cyst presenting as ventricular arrhythmia: a case report.

BACKGROUND: Hydatid disease caused by Echinococcus granulosus commonly involves the liver followed by lungs. Cardiac involvement is a rare occurrence and presents a challenging scenario. CASE PRESENTATION: Our case describes a middle-aged gentleman who presented to the emergency room with an episode of sudden loss of consciousness resulting from ventricular tachycardia. After successful cardiac resuscitation, the patient underwent imaging that showed a lesion compatible with hydatid cyst. Surgical treatment with pharmacologic coverage was provided which resulted in good clinical outcome. CONCLUSIONS: The case highlights rare occurrence of isolated cardiac hydatid disease presenting as cardiac arrhythmia in contrast to its common routine outpatient presentation involving the liver and lungs. Good knowledge of the unusual presentations and its epidemiology is essential to the proper management of such patients.

Glomuvenous Malformation of the Neck.

The cells in glomus body regulate blood flow to the skin and play a role in temperature regulation. Glomuvenous malformations (GVMs), previously reported in literature as glomus tumors or glomangiomas, are usually present in the nail bed. In 1972, Carroll and Berman described the triad of paroxysmal stabbing pain, point tenderness, and cold hypersensitivity associated with these malformations. We present an unusual case of GVM in the neck of a 17-year-old female presenting with a painful right-sided neck mass. Physical examination revealed an approximately 2.5 × 2 cm right-sided tender neck mass; pain was exacerbated by probing with a pinhead. Computed tomography identified multiple rounded masses in the neck, with the delayed contrast filling. The patient underwent excisional biopsy of the lesion and samples were sent for histopathological examination. The histopathology report, along with the radiological findings and the clinical presentation, confirmed the diagnosis of GVM. The patient remained symptom-free on long-term follow-up. Despite absence of previous reports, GVM can occur in neck. Surgical excision can lead to complete resolution of symptoms.

Ossifying fibromyxoid tumor: a rare case.

Ossifying fibromyxoid tumour (OFMT) is a rarely occurring soft tissue neoplasm of mesenchymal origin. It is a rarely found tumour with intermediate behaviour and differentiation. Although it is mostly benign, malignant variants also exist. We are presenting a case of 32-year-old man presented in clinic with complaints of painless swelling in left distal thigh. After reviewing his X-ray, a diagnostic biopsy was planned which came out to be suspicious of solitary fibrous tumour. Other radiological workup was done and the patient was planned to undergo wide margin excision. The final histopathology showed a diagnosis of OFMT of soft tissue, atypical variant. The patient is under follow-up and is disease free. This type of tumour possesses potential of local recurrence and metastases; therefore, it is important to keep a long-term follow-up of patient.

Usefulness of Delayed Films of Contrast Enema for Detecting Hirschsprung's Disease.

Background Contrast enema (CE) in Hirschsprung's disease (HD) provides a road map to surgeons by ascertaining the transition zone (TZ) and helps in pre-surgical planning. In our institute, we use CE as the initial investigation for HD and carry on till the whole colon is fully distended, followed by a 24-hour abdominal film which is also a part of the international protocol. The main aim of this study was to evaluate the usefulness of this 24-hour delayed film in detecting HD, compare it with gold-standard biopsy results, and to evaluate other imaging features of contrast enema for diagnosis of HD in our tertiary-care hospital in Pakistan.  Methods This retrospective study was conducted at the Department of Radiology, Aga Khan University Hospital, Karachi. Records of pediatric patients referred for radiological evaluation of symptoms and signs suspicious of HD during the years 2007-2017 were reviewed. A delayed film was labeled positive if the contrast was not completely evacuated when the residual contrast was present till transverse colon and not beyond. Specificity and sensitivity along with positive and negative predictive values were calculated for each finding according to rectal biopsy, taken as the gold standard. Results In all, 82 patients met the inclusion criteria out of 111 cases, as they had both biopsy results and delayed 24-hour films. HD was confirmed using rectal biopsy in 56 (43 patients were males and 13 were females) of 82 cases. The most sensitive radiological finding was the transition zone with a sensitivity of 91.07%. The rectosigmoid index was the second most common finding on contrast enema with a sensitivity and specificity of 91.07% and 83.93%, respectively. In all, 59% patients had a positive delayed 24-hour film and were confirmed with having HD on biopsy. The sensitivity, specificity, and positive predictive value of delay in contrast evacuation after 24 hours in our study was 81.25%, 90.91%, and 97.50% respectively. Conclusion Contrast enema examinations along with the 24-hour delayed film with mid transverse colon cut-off are optimal for initially investigating HD in a developing nation, and our results show that it correlates well with biopsy. However, rectal biopsy still remains the gold standard for diagnosis.

Osteoid osteoma: Contemporary management.

Osteoid osteoma is a benign bone-forming tumor with hallmark of tumor cells directly forming mature bone. Osteoid osteoma accounts for around 5% of all bone tumors and 11% of benign bone tumors with a male predilection. It occurs predominantly in long bones of the appendicular skeleton. According to Musculoskeletal Tumor Society staging system for benign tumors, osteoid osteoma is a stage-2 lesion. It is classified based on location as cortical, cancellous, or subperiosteal. Nocturnal pain is the most common symptom that usually responds to salicyclates and non-steroidal anti-inflammatory medications. CT is the modality of choice not only for diagnosis but also for specifying location of the lesion, i.e. cortical vs sub periosteal or medullary. Non-operative treatment can be considered as an option since the natural history of osteoid osteoma is that of spontaneous healing. Surgical treatment is an option for patients with severe pain and those not responding to NSAIDs. Available surgical procedures include radiofrequency (RF) ablation, CT-guided percutaneous excision and en bloc resection.

Unicameral bone cysts: Current concepts.

Unicameral bone cysts (UBC) or simple/solitary bone cysts are benign fluid filled cavities that enlarge over time, resulting in thinning of the bone. Usually these cysts are reported in the metaphyseal areas of long bones with open physes. 85% of UBCs occur almost exclusively in children and adolescents. UBCs are more aggressive in the first decade of life and correspondingly the recurrence rate for these patients is four times that for adolescents. The proximal humerus and femur account for almost 90% of these cases. UBCs are classified as active when they are within 1 cm of the physis and latent as they progress to a diaphyseal location. Differential diagnoses for UBC include aneurysmal bone cyst, fibrous dysplasia, enchondroma, and intraosseous ganglia. By the time of skeletal maturity most UBCs tend to resolve. Nonoperative treatment may be a viable option for many patients with small or symptomatic lesions. Interventions include steroid injection, open curettage and bone grafting, decompression and percutaneous injection of marrow or graft substitutes.

Metachronous renal Ewing sarcoma/primitive neuroectodermal tumour in a survivor of Burkitt lymphoma.

We present a case of a 14-year-old girl who was diagnosed with Burkitt lymphoma in 2014. She was managed with chemotherapy and remained in remission for 3 years. On her surveillance imaging in 2017, a left-sided renal neoplastic mass was incidentally discovered. She underwent nephrectomy and pathology of the resected specimen revealed small cell tumour of the kidney with features favouring renal Ewing sarcoma/primitive neuroectodermal tumour. Molecular genetic analysis by fluorescence in situ hybridisation was performed which showed translocation of 22q12, thereby confirming the diagnosis. This is a rare secondary malignancy and an unusual association. This case highlights the importance and diagnostic dilemmas of rare secondary tumours in patients with such haematological malignancies and discusses its possible pathogenetic aspects.

Clinicoradiological Correlation of Infarct Patterns on Diffusion-weighted Magnetic Resonance Imaging in Stroke.

Diffusion-weighted magnetic resonance imaging (DW-MRI) represents a major advance in the early diagnosis of acute ischemic stroke. It can detect edema due to ischemia in the brain tissue. It not only establishes the presence and location of ischemic brain injury but also a relatively new concept is the determination of infarct patterns seen on diffusion imaging and its clinical correlation. Objective To determine the frequency of various infarct patterns and their relationship with functional outcome of the patient. Materials and methods A total of 108 patients with acute stroke were enrolled by purposive sampling. Magnetic resonance imaging (MRI) was obtained with departmental protocol and diffusion-weighted sequences. The clinical data was collected from medical records and functional outcome was assessed at the time of admission using Barthel Index (BI) which was dichotomized into poor and favorable outcomes. The radiological data was collected and three infarct patterns (cortical, subcortical, and territorial infarcts) were recorded from diffusion-weighted images. Association of other risk factors such as age, gender, diabetes, hypertension (HTN), hyperlipidemia, and smoking were also evaluated. Results Amongst the three infarct patterns, subcortical infarcts were noted with the highest proportion of 62% (67/108). The highest proportion of territorial infarcts (78.6%) was significantly associated with a poor outcome in comparison to cortical and subcortical infarcts. Cortical infarcts (61.5%) were significantly associated with good outcomes followed by subcortical and then territorial infarcts (p-value < 0.002). Amongst the risk factors, HTN was found to be highly prevalent followed by diabetes mellitus (DM). Conclusion Subcortical infarct pattern was the most common, followed by territorial and cortical infarct. The highest proportion of infarct pattern with good outcomes was seen with cortical infarcts followed by subcortical and then territorial infarct pattern. HTN and coronary artery disease (CAD) were the effect modifiers showing significant association with poor outcomes.

Negative Predictive Value of Ultrasound in Predicting Tumor-Free Margins in Specimen Sonography.

OBJECTIVE: To evaluate the success of ultrasound in post-excision specimen visualization, and negative predictive value of ultrasound for estimation of tumor-free margins using histopathology as the gold standard. STUDY DESIGN: Cross-sectional analytical study. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital, Karachi, Pakistan, from May 2010 till January 2013. METHODOLOGY: Sonography of all breast nodules was done before and after exicision by two female radiologists with at least five years clinical experience. All surgeries were performed by the same referring breast surgeons. All nodules were non-palpable and had histopathology as well as specimen sonography performed at AKUH. Subjects were excluded, if histopathology was not available, post-procedure sonogram not done or done in another hospital and nodules that were not seen on ultrasound. After needle localization in 47 patients using ultrasound and in 7 patients using mammogram was done, sonogram was conducted in all 54 lesions. These were then assessed by ultrasound for detection of lesion and tumor-free margins in malignant lesion. Post-excision ultrasound was performed for the evaluation of lesion whether visualized or absent with localizing needle in situ, lesion dimensions, depth measurement between the superior margin of the lesion and its edge. RESULTS: All 54 lesions were present on post-exicison scan, out of which 28 were documented as malignant and 26 as benign. Ultrasound declared all specimens as tumor-free. On histopathology, two lesions were documented as having tumor-positive margins and were proven to be invasive lobular carcinoma. Therefore, the negative predictive value of the specimen sonography for margin detection was 26/28 (92.8%). CONCLUSION: Ultrasound of the excised breast tumor specimen is a simple and reliable technique for confirmation of the tumor-free margins in non-palpable breast lesions.

Bilateral intracranial calcifications with bilateral facial cutaneous naevus: Sturge Weber syndrome.

Sturge Weber syndrome also known as mother spot disease belongs to a group of disorders called phakomatoses (neurocutaneous syndromes involving the central nervous and cutaneous systems). It is a congenital disorder of the vasculature of the meninges, brain, face and eyes. Clinically, it usually presents with seizures and other neurological complications, including mental retardation, contralateral hemiparesis and glaucoma. Its incidence is estimated at one case in 20 000-50 000 persons with equal frequency in boys and girls. We present a case of 18-months-old boy was brought by parents with history of seizures since birth resulting in fall 1 day back. Physical examination showed bilateral port-wine stain on face. CT head examination revealed bilateral intracranial calcification. This is a highly unusual presentation of Sturge Weber syndrome.

Successful percutaneous angioembolisation of bleeding jejunal varix by acrylate glue and coils.

Portal hypertension is a common disease worldwide. One of its rare complications is bleeding jejunal varices which is usually asymptomatic and may present with gastrointestinal bleeding. We present a case of a jejunal bleeding that was successfully embolised with acrylate glue and embolisation coils. A middle-aged woman with a history of multiple abdominal surgeries for adenocarcinoma of right ovary, presented to us with multiple episodes of haematochezia. On a CT scan of the abdomen, she was diagnosed with chronic liver disease with portal hypertension, multiple varices at porto-systemic anastomosis and ectopic jejunal varix. She was treated by interventional radiologists by percutaneous embolisation of bleeding varix using glue and embolisation coils through a portal venous approach.