Peronea Magna Artery Challenging Proximal Fibula Resection of Ewing’s Sarcoma, Report of a Case

Surgical resection of the fibula is commonly done for either to obtain structural bone graft or to respect the fibula if involved by bone tumor. The vascular anatomy around the popliteal fossa is complex and has to be studied prior to any attempt of surgical resection. We present a case of 11 years old female patient who was diagnosed as a Ewing’s sarcoma of the fibula and her pre-operative CT angiography showed a vascular anomaly of Peronea magna artery. Following adjuvant chemotherapy, the patient was treated by wide local resection and the surgical procedure has to be modified in order to save the dominant peroneal artery the vascularity of the limb.

Twiglike MCA: A Not-So-Common Cerebral Vascular Anomaly

Congenital anomalies of the MCA are rare compared with the rest of the intracranial vasculature. An aplastic MCA, known as a twiglike MCA, is the result of replacement of MCA trunk by a plexiform network of small vessels. In this report, we aim to review the radiologic features of a twiglike MCA and its differential diagnosis, helping the reader differentiate this entity from more common pathologies to avoid unnecessary further investigation.

Embolization of a Superior Mesenteric Arteriovenous Fistula Identified During Consultation for a Transjugular Intrahepatic Portosystemic Shunt Procedure: A Case Report

Superior mesenteric arteriovenous fistula is a rare vascular anomaly often presenting with sequelae of portal hypertension, heart failure, or mesenteric ischemia. This report describes a 75-year-old woman with a history of extensive small bowel resection who presented with variceal bleeding. She was referred to vascular and interventional radiology for a transjugular intrahepatic portosystemic shunt procedure; however, her history was inconsistent with cirrhosis. This prompted further review of her imaging, which identified a superior mesenteric arteriovenous fistula as the probable etiology of her varices. This was subsequently embolized with a vascular plug and follow-up upper endoscopy at 1-month demonstrated complete resolution of her varices. This patient was able to avoid a procedure with potentially catastrophic consequences, highlighting the necessity of comprehensive consultations by interventional physicians. Level of Evidence: Level 4, Case Report.

Death Related to a Congenital Vascular Anomaly of Pulmonary Hamartoma Type: Malpractice or Tragic Fatality?

In forensic pathology, apparently straightforward cases can often hide rarities that, if not correctly interpreted, can alter the results of the entire investigation, leading to misinterpretations. This occurs when the investigation is conducted to assess medical malpractice. An unexpected death, with no known apparent cause, is often linked to an underlying disease process of unclear etiological origin whose nature can, unfortunately, be properly investigated only post-mortem. This presentation shows a case study, in which it was possible to reconduct the death of a patient to a natural pathology and not to medical treatment. Here, the authors illustrate a case with a hamartoma developed in chronic inflammatory conditions (bronchiectasis) that was difficult to differentiate from lung cancer due to the inability to perform specific instrumental examinations. The hamartoma, usually benign and identifiable by standard instrumental investigations, in this case, led to the patient’s death precisely during the execution of a bronchoscopy. However, in the absence of a certain cause of death, public opinion unanimously attributes a patient’s disease to medical error. Indeed, a routine practice such as bronchoscopy should not cause death and consequently, the doctor must have made a mistake. Fortunately, the autopsy not only demonstrated the origin of the bleeding but also unveiled the reason for this, as rare congenital lung disease. Fate, one might say.

Congenital Anomalous Azygos Vein Drainage Causing Pulmonary Embolus in a 91-Year-Old Patient

Background: Retroaortic course and azygos continuation of aberrant left brachiocephalic vein is a rare venous anomaly, which is usually associated with congenital heart disease and pulmonary artery anomalies. Venous stasis is a cause of pulmonary arterial thromboembolism, which can result from venous anomalies. Case presentation: We describe the case of a 91-year-old female admitted to our hospital with shortness of breath diagnosed with pulmonary embolism and infarctions by a CT pulmonary angiogram. CT also showed aberrant left brachiocephalic vein with vascular webs at its retroaortic course and azygos continuation, suggesting chronic venous thrombosis, which was considered to be the suspected source of emboli. Conclusion: To our knowledge, this is the first report presenting this vascular anomaly manifesting with chronic venous thrombosis and pulmonary embolism. Although rare, awareness and identification of this entity is important, especially in the absence of obvious embolic sources or in patients with recurrent embolus/consolidation.

Diagnostic Accuracy of SWAN in the Diagnosis of Low-Flow Brain Vascular Malformations in Childhood

Purpose The main objective of this study is to demonstrate the diagnostic accuracy of susceptibility-weighted angiography (SWAN) in the diagnosis of slow-flow cerebral vascular malformations, especially developmental venous anomaly (DVA). We also aimed to determine the prevalence of DVAs identified by SWAN at 1.5 T. Methods We retrospectively evaluated 1,760 axial SWAN images for the diagnosis of low-flow vascular anomaly. Among them were 305 patients who underwent contrast-enhanced examination due to different indications. Postcontrast images were analyzed by different radiologists who were blinded to patients. The presence of DVA and other features such as location, length, depth, and direction of drainage vein was evaluated. Results Twenty-six patients with DVA had both SWAN and postcontrast images. There were four false-negative patients with SWAN. The sensitivity of the SWAN sequence was 84.6%. In addition, totally 77 DVA (4.36%), 2 capillary telangiectasia (0.11%), and 2 cavernous malformations (0.11%) were detected in 1,760 patients. Conclusion SWAN is an effective method for the diagnosis of developmental venous anomalies and other low-flow cerebral vascular malformations. Especially in the pediatric age, susceptibility-weighted imaging sequences are useful to limit contrast use.

Colon cancer in malrotated gut: A case report

Malrotation of the gut is a rare congenital anomaly that mostly presents in the 1st month of life. Very rarely, it is found during adulthood either as an asymptomatic incidental finding or at autopsy. Presenting in adulthood with colon cancers is extremely rare. Here, we present the case of a middle-aged male patient with unexplained anemia which on investigation was found to have adenocarcinoma at the hepatic flexure of the colon. The staging computed tomography scan of the abdomen showed the growth at the hepatic flexure with malrotation of the gut. During the laparoscopic assessment, the cecum and ascending colon were found on the left side, and hence, a formal midline incision was made. Cecum was found on the left of the midline along with Ladd’s band. Extended right hemicolectomy was performed, dividing the Ladd’s band, taking care of the anomalous position of superior mesenteric vessels. The post-operative period was uneventful. Histopathological examination revealed this to be well-differentiated adenocarcinoma (pT3N1b). He thereafter received adjuvant chemotherapy and remains well after 5 years of follow-up. Presentation of malrotation of the gut in adulthood is seen in only 10–15% of cases as an incidental finding or at autopsy. Cancers in the colon in these patients are extremely rare. The treatment for colon cancer remains the same although one has to be careful about the vascular anomaly during the resection.

PIK3CA Mutation Correlates With mTOR Pathway Expression But Not Clinical and Pathological Features in Fibro-Adipose Vascular Anomaly (FAVA)

BackgroundFibro-adipose vascular anomaly (FAVA) is a rare and new entity of vascular anomaly. Activating mutations in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene were identified at a frequency of 62.5% in FAVA cases. The PIK3CA mutations excessively activate mammalian target of rapamycin (mTOR) pathway, which promotes angiogenesis and lymphangiogenesis, implying that PIK3CA mutations may act as drivers of FAVAs. This study investigated the correlations between PIK3CA mutational status, clinicopathological features and immunohistochemical expression of the mTOR pathway in a series of FAVA.MethodsWe retrospectively evaluated the clinical and pathological findings of five FAVA cases. We performed next-generation sequencing (NGS) with a custom panel of genes associated with the mTOR pathway and genes responsible for other vascular anomalies, direct sequencing and immunohistochemical analysis of the mTOR pathway.ResultsTwo PIK3CA-mutation cases and three PIK3CA-wild-type (wt) cases exhibited similar typical clinical features of FAVA. Histological analysis revealed venous malformation, lymphatic malformation, nerves containing enlarged abnormal vessels and fibrofatty tissue were observed regardless of PIK3CA mutational status. In contrast to clinical and histological findings, the immunohistochemical expression of activated AKT and mTOR that are upstream of the mTOR pathway was detected in abnormal vessels of PIK3CA-mutation cases but not in those of PIK3CA-wt cases. However, activated eukaryotic translation initiation factor 4E-binding protein 1 (4EBP1) and ribosomal protein S6 kinase 1 (S6K1), both of which are downstream effectors of the mTOR pathway, were expressed in abnormal vessels of both PIK3CA-mutation and PIK3CA-wt cases. Furthermore, targeting NGS did not find any common genetic mutations involved in the mTOR pathway among PIK3CA-wt cases.ConclusionThere was no significant association between the presence of PIK3CA mutations and the clinicopathological features of FAVA, suggesting that the PIK3CA gene is not necessarily involved in the onset of FAVA. FAVAs lacking PIK3CA mutations would be caused by other gene mutations that activate 4EBP1 and S6K1.