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A new section on the approach to diagnostic histological interpretation, is the overture to this chapter on inherited and developmental disorders. This initial section is split chronologically into the early neonatal and infantile period and later childhood and adulthood; with the intention of reflecting clinical practice as closely and succinctly as possible. Disorders of the biliary tree, bile formation and secretion, and hepatocyte metabolism are the core of this chapter, a merger of chapters 3 and 4 of the previous edition. Considerations on the pathogenetic and/or clinical overlap between developmental, genetic and metabolic disorders were the rationale behind this change. The complexity of hepatocyte metabolism is reflected into the miriad of related pathological conditions. Recent technological advances, particularly in genomics in the last five years, have resulted in a plethora of new entities and changes in terminology, challenging the authors to balance detail and application to clinical practice. Tables and figures from previous editions have been largely kept due to their quality and contemporary relevance, whilst new ones have been added to accommodate new advances (e.g. classification of mitochondrial disorders), a compromise to bridge between the two editions for the accustomed reader. Liver involvement in immunodeficiency and miscellaneous disorders precede the final section on anatomical anomalies. Vascular anomalies are now included in the chapters on vascular disorders.

OBJECTIVE: To evaluate whether pathologic complete response (pCR) exclusively defines major pathologic response to treatment with improved survival. SUMMARY BACKGROUND DATA: pCR following trimodality therapy for esophagogastric adenocarcinoma is infrequent but associated with improved prognosis. Yet most clinical trials and correlative studies designate pCR as the primary endpoint. METHODS: We analyzed our prospectively maintained database for patients who underwent trimodality therapy for locally advanced esophageal adenocarcinoma between 1995 and 2017. Overall survival (OS) was examined by percentage treatment response (TR) in the primary tumor bed and pathologic nodal stage (ypN0) using Kaplan-Meier plots. Optimal thresholds of TR for differentiating patients in terms of OS were investigated with descriptive plots using restricted cubic spline functions; associations were quantified using Cox multivariable analysis. RESULTS: Among 788 patients, median follow-up was 37.5 months (range, 0.4–210.6); median OS was 48.3 months (95% CI, 42.2–58.8). Absence of residual nodal disease was independently associated with improved survival (P

ZusammenfassungIn jüngster Zeit wurden in der Therapie der eosinophilen Ösophagitis (EoE) und insbesondere im Bereich der topischen Corticosteroide erhebliche Fortschritte erreicht. Neue EoE-spezifische Darreichungsformen wurden entwickelt und haben in Form der orodispersiblen Budesonid-Tablette zu der ersten in Deutschland und anderen europäischen und außereuropäischen Ländern zugelassenen Therapie der EoE bei Erwachsenen geführt. In den USA steht eine EoE-spezifische orale Budesonid-Suspension kurz vor der Zulassung. Dagegen bleibt die wissenschaftliche Datenlage zur Wirksamkeit von Protonenpumpeninhibtoren weiterhin limitiert. Auch im Bereich der Biologika konnten nach langer Zeit Substanzen identifiziert werden, die erstmals in Phase 2 sehr vielversprechende Ergebnisse gezeigt haben und sich derzeit in klinischen Prüfungen der Phase 3 befinden. In diesem Artikel sollen die aktuellen Fortschritte und Perspektiven in der Therapie der EoE dargestellt und diskutiert werden.

ZusammenfassungEine Beteiligung des Ösophagus bei der Hauterkrankung Lichen planus wurde erstmals 1982 beschrieben und fast 30 Jahre lang als eine Rarität angesehen. Untersuchungen der letzten 10 Jahre aber zeigen, dass diese Erkrankung weniger selten ist als angenommen. Es ist sogar anzunehmen, dass der ösophageale Lichen planus (Esophageal Lichen planus, ELP) häufiger ist als die Eosinophile Ösophagitis (EoE). Die Ösophagusbeteiligung betrifft meist Frauen im mittleren Alter. Das Hauptsymptom ist eine Dysphagie. Endoskopisch erkennt man in der Speiseröhre eine charakteristische Schleimhautablösung, eine Trachealisierung, und gelegentlich Hyperkeratosen und bei langem Bestehen auch Stenosen. Wegweisend ist die Histologie mit einer subepithelialen Ablösung sowie einem bandförmigen Infiltrat aus T-Lymphozyten, dem Nachweis von apoptotischen Keratinozyten (Civatte Bodies) und Dyskeratosen. Die direkte Immunfluoreszenz zeigt Fibrinogen-Ablagerungen entlang der Basalmembran. Eine etablierte Therapie gibt es bisher nicht. Die Behandlung mit topischen Steroiden ist in 2/3 der Fälle wirksam. Eine Therapie wie beim klassischen Lichen planus scheint unwirksam zu sein. Bei symptomatischen Stenosen kann eine Dilatation indiziert sein. Der ELP reiht sich in die Gruppe der „neuen“ immunologisch vermittelten Erkrankungen des Ösophagus ein.

Lysosomal acid lipase (LAL) deficiency is a rare, autosomal recessive disease caused by mutations in the LIPA gene, which produces cholesteryl ester and triglyceride accumulation predominantly in hepatocytes, adrenal glands, and gastrointestinal tract. We describe two new cases occurring in siblings, aged 5 and 7 years, who presented with hepatomegaly, dyslipidemia, and abnormal liver function. Percutaneous liver biopsy revealed portal inflammation, hypertrophic Kupffer cells with a foamy appearance and microvesicular steatosis with fibrosis. Immunostaining for lysosomal markers, cathepsin D and LAMP1 reflected the lysosomal nature of the lipid vacuoles. After enzymatic confirmation, enzyme replacement therapy was initiated for both siblings. Follow-up transaminase levels and lipid profiles showed a notable decrease in AST and ALT and a slight increase in HDL cholesterol. It is crucial to increase awareness of this rare condition among clinicians and pathologists. The expression of lysosomal markers around the lipid vacuoles might help diagnose LAL deficiency in pediatric patients.

Resumen Introduccion Los antipsicoticos son medicamentos que pueden producir elevaciones transitorias de las enzimas hepaticas. La clozapina es un antipsicotico atipico usado en el tratamiento de la esquizofrenia refractaria a los antipsicoticos convencionales y existe evidencia que puede producir elevaciones de las transaminasas hepaticas, expresion de dano hepatico con patron hepatocelular. Metodos Reporte de caso y revision no sistematica de la literatura relevante. Presentacion del caso Una mujer de 39 anos con diagnostico de esquizofrenia paranoide acudio a un servicio de urgencias de un hospital general por nauseas, vomitos e ictericia que aparecio tras el inicio de clozapina. No hubo mejoria clinica de la paciente durante la hospitalizacion, que fallecio a los 44 dias de su ingreso. Revision de la literatura La clozapina puede elevar las cifras de funcion hepatica de manera transitoria y asintomatica. Hay criterios clinicos para recomendar la suspension de este antipsicotico. Conclusiones Este caso es el tercero en la literatura que registra un desenlace fatal tras un cuadro de hepatotoxicidad inducido por clozapina.

Objective To assess the initial clinical experience with a novel endograft system (NEXUS Aortic Arch Stent Graft System) designed to treat aortic arch pathologies and address the morphology and hemodynamic challenges of the aortic arch. Summary background data The aortic arch remains the most challenging part of the aorta for both open and endovascular repair. Transcatheter aortic arch repair has the potential to significantly reduce surgical risks. Methods Patients underwent transcatheter aortic arch repair with a single branch, two stent graft system, implanted over a through-and-through guidewire from the brachiocephalic trunk, to the descending aorta with an ascending aorta stent graft. The ascending aorta stent graft is deployed into a designated docking sleeve to connect the two stent grafts and isolate the aortic arch pathology. Proximal landing zone in all cases was in Zone 0. Anatomical inclusion criteria included adequate landing zone in the ascending aorta, brachiocephalic trunk and descending thoracic aorta. Preparatory debranching procedure was performed in all patients with carotid - carotid crossover bypass and left carotid to left subclavian bypass, or parallel graft from descending aorta to left subclavian artery. Safety and performance were evaluated through one year. Survival analysis used the Kaplan-Meier method. Results Twenty-eight patients, 79% males, with a mean age of 72.2 ± 6.2 years were treated with 100% procedural success. Isolated aortic arch aneurysm was the principle pathology in 17 (60.7%) of patients while chronic aortic dissection was the principle pathology in 6 (21.4%) of patients. The remaining 5(17.8%) had combined or other pathologies. At one month, the vascular pathology was excluded in 25 of 26 alive patients (96.1%). The 30 days mortality rate was 7.1%, stroke rate was 3.6% (all non-disabling) and combined mortality/stroke rate was 10.7%. One year mortality was 10.7%, without device or aneurysm related death. Two patients (7.1%) reported stroke or transient ischemic attack at one year that recovered completely. One year combined mortality/stroke rate was 17.8%. There were three patients (10.7%) that had device related unplanned reinterventions through one year. Conclusions The NEXUS Aortic Arch Stent Graft System, a novel single branch, two stent graft system used for endovascular aortic arch repair that requires landing in the ascending aorta, demonstrates a high success rate with excellent one year safety and performance.

The COVId19 pandemic is a newly emerging infectious disease that needs to be understood thoroughly in order to be controlled. This study aimed to study the clinical and laboratory characteristics of the COVID19 patient . Patient and methods: A cross-sectional study was done in Iraq, at Salahadeen general hospital from the period 1st March to the end of May 2020 on patients diagnosed with COVID 19. A total of 75 COVID19 patients enrolled in the study. a full history was taken, a full physical examination was done, computerized tomography, and laboratory tests. Results: The age distribution of the COVID19 patient were commonly aged (30-50 years) 37(49.3%), and those aged

Resumen Antecedentes y objetivo El manejo actual de la diverticulitis aguda de colon izquierdo requiere pruebas con alto valor pronostico. Los objetivos del estudio son analizar la utilidad de la ecografia como metodo diagnostico inicial y evaluar la validez de las clasificaciones actuales de gravedad de dicha enfermedad. Pacientes Estudio observacional retrospectivo de pacientes con diverticulitis aguda de colon izquierdo. Se solicito ecografia o tomografia computarizada (TC) siguiendo un algoritmo clinico. Tras los hallazgos de imagen, se clasifico la enfermedad como leve, localmente complicada y complicada. Se evaluaron la eficacia de la ecografia como herramienta diagnostica inicial y las razones por las que se realizo una TC como tecnica inicial. Se compararon los hallazgos con las clasificaciones de diverticulitis publicadas. Resultados De 311 pacientes con diverticulitis aguda, se seleccionaron 183 con diverticulitis aguda de colon izquierdo, que fueron clasificadas por imagen como leves (104), localmente complicadas (60) y complicadas (19). En 98 pacientes, el diagnostico se realizo por ecografia, en 77 por TC y en 8 mediante ambas. Las principales razones de utilizacion inicial de TC fueron falta de experiencia del radiologo en ecografia abdominal y falta de disponibilidad de un radiologo de guardia. A 6 pacientes diagnosticados por ecografia se les realizo una nueva evaluacion por TC, pero solo en 3 cambio la clasificacion. Ninguna de las clasificaciones publicadas recoge todos los hallazgos en imagen. Conclusiones La ecografia deberia ser la primera tecnica a utilizar para el diagnostico de diverticulitis aguda de colon izquierdo. Para establecer el pronostico de la enfermedad, son utiles diversos parametros analiticos y hallazgos de imagen. Para una apropiada toma de decision terapeutica se necesitarian nuevas clasificaciones de gravedad.

Resumen Objetivo Contribuir con la presentacion de los resultados de nuestro estudio a ampliar la evidencia cientifica sobre el empleo de la radioembolizacion en el manejo de pacientes con hepatocarcinoma. Material y metodo Se trata de una revision retrospectiva realizada en nuestro centro que incluye a 53 pacientes con hepatocarcinoma tratados con radioembolizacion. Los pacientes fueron clasificados segun el algoritmo del BCLC (Barcelona Clinic Liver Cancer) y de forma pormenorizada por su estado funcional siguiendo la clasificacion de Child-Pugh. Se realizo un estudio de supervivencia siguiendo la metodologia de Kaplan-Meier. Se empleo el metodo de regresion de Cox para la determinacion de parametros clinicos significativos, incluyendo dosis administradas en los parametros estudiados. Resultados La serie evaluada comprende a pacientes con una media de edad de 60 anos (rango 28-86). Se llevaron a cabo un total de 61 procedimientos. La actividad media administrada fue de 2,8 GBq (0,7-6,4 GBq), administrando una dosis media en tumor de 229,9 Gy (74-425,9 Gy). El tiempo libre de progresion fue de 6,7 meses desde el momento del tratamiento y la supervivencia global fue de 12,8 meses. La clasificacion de los pacientes segun BCLC (p = 0,848) y Child-Pugh (p = 0,252) no resulto significativa respecto al tiempo libre de enfermedad. Los parametros clinicos que resultaron con diferencias significativas en cuanto a supervivencia global fueron los niveles de bilirrubina (p Conclusiones La radioembolizacion es un procedimiento seguro y eficaz en el tratamiento de pacientes con hepatocarcinoma. La funcion hepatica y las dosis recibidas por el tumor son parametros claves en la eficacia del tratamiento. El incremento de la evidencia cientifica apoya su inclusion en guias terapeuticas.

Objective To develop and evaluate the performance of artificial intelligence (AI) models that can identify safe and dangerous zones of dissection, and anatomical landmarks during laparoscopic cholecystectomy (LC). Summary background data Many adverse events during surgery occur due to errors in visual perception and judgment leading to misinterpretation of anatomy. Deep learning, a subfield of AI, can potentially be used to provide real-time guidance intraoperatively. Methods Deep learning models were developed and trained to identify safe (Go) and dangerous (No-Go) zones of dissection, liver, gallbladder, and hepatocystic triangle during LC. Annotations were performed by four high-volume surgeons. AI predictions were evaluated using 10-fold cross-validation against annotations by expert surgeons. Primary outcomes were intersection-over-union (IOU) and F1 score (validated spatial correlation indices), and secondary outcomes were pixel-wise accuracy, sensitivity, specificity, ± standard deviation. Results AI models were trained on 2627 random frames from 290 LC videos, procured from 37 countries, 136 institutions and 153 surgeons. Mean IOU, F1 score, accuracy, sensitivity, and specificity for the AI to identify Go zones were 0.53 (±0.24), 0.70 (±0.28), 0.94 (±0.05), 0.69 (±0.20) and 0.94 (±0.03) respectively. For No-Go zones, these metrics were 0.71 (±0.29), 0.83 (±0.31), 0.95 (±0.06), 0.80 (±0.21) and 0.98 (±0.05), respectively. Mean IOU for identification of the liver, gallbladder and hepatocystic triangle were: 0.86 (±0.12), 0.72 (±0.19) and 0.65 (±0.22), respectively. Conclusions AI can be used to identify anatomy within the surgical field. This technology may eventually be used to provide real-time guidance and minimize the risk of adverse events.

Malakoplakia is a rare chronic inflammatory condition, which primarily occurs in genitourinary tract, with prostatic malakoplakia being extremely rare. We present two cases of acute urinary retention, with clinically firm nodular prostate and a raised serum prostate-specific antigen. Transrectal ultrasound-guided prostatic biopsy showed features of malakoplakia. There was a significant reduction of size of prostate on transrectal ultrasonography after 4 weeks of antibiotics. However, one patient had failed trial without catheter and was subjected to transurethral resection of prostate. The biopsy of the prostatic chips also showed features of malakoplakia. Other patient improved symptomatically after antibiotics and was managed conservatively. Both the patients are on regular follow-up and are asymptomatic. Prostatic malakoplakia presenting as urinary retention is very uncommon with around 12 cases in the literature. Recognition of prostatic malakoplakia is important because clinically it can masquerade prostatic malignancy. Treatment with antibiotics is necessary before subjecting the patients for surgery in patients with obstructive symptoms.

Acute oesophageal necrosis is a rare cause of haematemesis associated with high mortality and morbidity in elderly patients with multiple comorbidities. Acute oesophageal necrosis is thought to be caused by a combination of hypoperfusion, vascular disease and duodenal disease causing transient gastric outlet obstruction and therefore reflux of gastric contents. The subsequent necrosis is associated with significant morbidity and mortality. We present a case of an 83-year-old man presenting with sepsis secondary to gallstone cholangitis, who developed haematemesis 2 days post admission. Oesopho-gastro-duodenoscopy demonstrated necrosis to the oesophagus and duodenal ulceration. This was the first case of acute oesophageal necrosis observed within our hospital. We review the literature on the management of acute oesophageal necrosis and discuss the impact of acute oesophageal necrosis and its complications on the patient’s long-term outcome.

We present a case of a 41-year-old woman who visited the emergency department (ED) with acute abdomen. She was diagnosed with perforated appendicitis and abscess formation on CT. She was treated conservatively with antibiotics and discharged. On control CT 3 months later, the appendix had healed, but signs of thickening of the terminal ileum were noticed and colonoscopy was performed, which was uneventful and showed no signs of inflammation. Twelve hours later, she developed pain in the right lower quadrant, followed by fever, and visited the ED. Physical examination and blood work showed signs consistent with acute appendicitis, and appendectomy was performed laparoscopically 6 hours later. The patient recovered remarkably shortly afterwards. Whether colonoscopy resulted in de novo appendicitis or exacerbated an already existing inflammation remains unknown. However, endoscopists should be aware of this rare, yet serious complication and consider it in the workup of post-colonoscopy abdominal pain.

A male patient, aged over 75 years, was referred to the emergency room for pain in his right hypochondrium. This pain, which persisted for approximately 3 days, radiated to his right flank and right iliac quadrant and worsened after meals. The patient reported no nausea, vomiting, diarrhoea, fever or recent traumatic events. Blood laboratory tests, ultrasonography, an MRI and a CT scan were performed, leading to the diagnosis of a mass in the Morrison’s pouch with ultrasound features of adipose tissue compatible with a liposarcoma, infiltrating the liver and the right kidney. Subsequent CT-guided needle aspiration and a histological examination led to the diagnosis of actinomycosis. The patient was initially treated with a daily dose of 18 million IU of benzylpenicillin for 4 weeks and subsequently prescribed the oral administration of 3 g/day of amoxicillin for 11 months. A monitoring CT scan was performed after 1, 5, 8 and 12 months, and a CT scan re-evaluation confirmed that the mass had completely healed.

A term male infant was born to a healthy 24-year-old mother with antenatally diagnosed liver-up, left congenital diaphragmatic hernia (CDH) and gastroschisis. The infant was stabilised in the neonatal intensive care unit and then underwent primary repair of the CDH via left subcostal incision and silo placement for the gastroschisis. Serial silo reductions were started postoperatively and umbilical flap closure for the gastroschisis was performed on day of life 6. The patient was weaned from respiratory support, started on enteral feeds, and discharged home at 1 month of age. He was weaned from supplemental nasogastric feeds by 6 weeks of age and is currently well and thriving at 11 months of age.

Primary retroperitoneal neuroendocrine tumours (NETs) are extremely rare, and many a times, these are metastatic lesions with known or unknown primary location, most commonly arising from the stomach, duodenum, small intestine and rectum. NETs arising from the duodenum are more commonly seen in the first part of the duodenum followed by the second part. The incidence is increasing because of easy accessibility to endoscopies and cross-sectional imaging. In NETs, lymph node (LN) metastasis occurs commonly when the tumour size is more than 2 cm. In contrast, LN metastasis occurs even with subcentimetric lesions, especially the ampullary variant of NETs. A patient presented to us with mild abdominal pain and found to have retroduodenal mass. On evaluation found to be a metastatic LN deposit of NET with the primary arising from the first part and supra-ampullary part of duodenum.

A 57-year-old man was incidentally diagnosed with a 7 cm left-sided retroperitoneal mass. The mass was presumed to be arising from the left adrenal gland on a CT scan of the adrenal glands. Thus, a thorough workup ensued, looking into the possible functionality of the lesion. All investigations resulted in the negative. Subsequently, the patient was referred for surgery to fully characterise the tumour. Histology proved that the lesion was a benign retroperitoneal schwannoma with no relation to the adrenal gland.

Primary adenocarcinoma of the fourth portion of the duodenum (D-IV) is reported infrequently than other parts of the duodenum. Its diagnosis is often late because of non-specific symptoms and signs. We encountered a 48-year-old male patient who was diagnosed as duodeno-duodenal intussusception, underwent segmental duodenal resection with duodenojejunal anastomosis and confirmed as adenocarcinoma of D-IV. He received adjuvant chemotherapy and is doing well at 1 year of follow-up. This report describes about the rare case of isolated adenocarcinoma of the D-IV presented as intussusception which is never reported before and successfully treated by segmental resection of the duodenum and jejunum.

Boerhaave’s syndrome or spontaneous perforation of the oesophagus is a life-threatening condition that carries high mortality. Delayed diagnosis has a mortality rate of 20%–50%. While surgical intervention has been the mainstay of treatment, advancements in endoscopy and oesophageal stenting have allowed for alternative management. Our case involves a 33-year-old man with self-induced emesis and DKA. After 10 days in the ICU, he developed a large right pleural effusion, which was treated with chest tube placement. Upper GI study confirmed delayed Boerhaave’s syndrome. A self-expanding stent was inserted followed by percutaneous endoscopic gastrostomy (PEG) for decompression and jejunal extension for nutrition. He developed empyema and underwent right thoracotomy for washout and lung decortication. Stent was exchanged once due to recurrent leak following migration and removed after 40 days. Endoscopic stent placement with PEG with jejunal extension followed by thoracotomy is a viable alternative to primary repair of delayed oesophageal perforation.

Morgagni hernia is the rarest type of congenital diaphragmatic hernia, which can present late in adulthood. Here, we report a case of Morgagni hernia in an elderly woman who presented as an acute coronary syndrome with raised troponin level. X-ray of the chest (CXR) showed air–fluid level in the right lower hemithorax with loss of right diaphragmatic outline and subsequently confirmed strangulated Morgagni hernia with CT. She was treated with emergency laparotomy to reduce the hernia content and surgical repair with mesh done. In conclusion, Troponin can be falsely positive in Morgagni hernia patients, possibly due to strain on the heart by herniated bowel contents. Basic imaging such as a (CXR) is useful in the case of chest pain to rule out the non-cardiac causes. Although ‘time is the myocardium’ in the setting of all cases of chest pain with raised troponin, CXR should be done before treatment that poses bleeding risk and unnecessary delay in laparotomy.

To compare safety and healthcare utilization after sleeve gastrectomy versus Roux-en-Y gastric bypass in a national Medicare cohort.Though bariatric surgery is increasing among Medicare beneficiaries, no long-term, national studies examining comparative effectiveness between procedures exist. Bariatric outcomes are needed for shared decision-making and coverage policy concerns identified by the cMS Medicare Evidence Development and Coverage Advisory Committee.Retrospective instrumental variable analysis of Medicare claims (2012-2017) for 30,105 bariatric surgery patients entitled due to disability or age. We examined clinical safety outcomes (mortality, complications, and reinterventions), healthcare utilization [Emergency Department (ED) visits, rehospitalizations, and expenditures], and heterogeneity of treatment effect. We compared all outcomes between sleeve and bypass for each entitlement group at 30 days, 1 year, and 3 years.Among the disabled (n = 21,595), sleeve was associated with lower 3-year mortality [2.1% vs 3.2%, absolute risk reduction (ARR) 95% confidence interval (CI): -2.2% to -0.03%], complications (22.2% vs 27.7%, ARR 95%CI: -8.5% to -2.6%), reinterventions (20.1% vs 27.7%, ARR 95%CI: -10.7% to -4.6%), ED utilization (71.6% vs 77.1%, ARR 95%CI: -8.5% to -2.4%), and rehospitalizations (47.4% vs 52.3%, ARR 95%Ci: -8.0% to -1.7%). Cumulative expenditures were $46,277 after sleeve and $48,211 after bypass (P = 0.22). Among the elderly (n = 8510), sleeve was associated with lower 3-year complications (20.1% vs 24.7%, ARR 95%CI: -7.6% to -1.7%), reinterventions (14.0% vs 21.9%, ARR 95%CI: -10.7% to -5.2%), ED utilization (51.7% vs 57.2%, ARR 95%CI: -9.1% to -1.9%), and rehospitalizations (41.8% vs 45.8%, ARR 95%Ci: -7.5% to -0.5%). Expenditures were $38,632 after sleeve and $39,270 after bypass (P = 0.60). Procedure treatment effect significantly differed by entitlement for mortality, revision, and paraesophageal hernia repair.Bariatric surgery is safe, and healthcare utilization benefits of sleeve over bypass are preserved across both Medicare elderly and disabled subpopulations.

A 62-year-old woman presented with non-specific abdominal pain, elevated alkaline phosphatase levels and bilateral sequential visual loss. Visual acuity was counting fingers in right eye (RE) and 20/400 in left eye (LE). She was noted to have optic nerve pallor in RE and mildly elevated optic disc with signs of ocular inflammation in LE. After 2 weeks, vision deteriorated to light perception bilaterally with now extensive vitreal inflammation present in both eyes. Positive rapid plasma reagen and Treponema pallidum’s antibody tites confirmed syphilis infection. Unfortunately, as the diagnosis was delayed by many months, her visual acuity remained poor (hand motions in RE and 20/50 in LE) despite treatment with intravenous penicillin. This case reminds us of the re-emergence of this ‘great masquerader’ and highlights the importance of maintaining high suspicion for syphilis in patients with unexplained visual loss and systemic symptoms, even in older adults without identifiable risk factors.

We present an 87-year-old woman who presented to the emergency department with a 7-day history of severe abdominal pain at her ileostomy parastomal hernia site. Prior to presentation, her general practitioner had started her on a reducing steroid dose for suspected Crohn’s disease exacerbation. On examination, she had a distended abdomen with localised guarding and tenderness over her hernia site. A CT scan demonstrated an incarcerated perforated gallbladder within her parastomal hernia. Successful surgical management was performed involving an enterotomy, refashioning her ileostomy and an open cholecystectomy. The patient recovered well with a short postoperative stay. This report is intended as a guide for clinicians in the differential diagnoses for acute abdominal pain and an unusual presentation of a gallbladder perforation.

Gastroenteropancreatic neuroendocrine tumours (GEPNETs) are a heterogenous group of tumours which are rising in incidence. Morbidity and mortality related to these tumours is dependent on the location of metastatic spread. Hyperammonaemia and subsequent encephalopathy has previously been described in GEPNET and is typically associated with a poor prognosis. We describe a case of a 55-year-old woman with hyperammonaemic encephalopathy and a new diagnosis of GEPNET. Given the poor prognosis and the outcomes in this patient group we feel this case highlights the benefit of a multimodality treatment approach including peptide receptor radionucleotide therapy and transarterial chemoembolisation.

Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and coronavirus disease 2019 (COVID-19) continues to have a devastating impact across the globe. However, little is known about the disease course in patients with autoimmune hepatitis (AIH). Methods Data for patients with AIH and SARS-CoV-2 infection were combined from three international reporting registries and outcomes were compared to those with chronic liver disease of other aetiology (non-AIH CLD) and to patients without liver disease (non-CLD). Results Between 25th March and 24th October 2020, data were collected for 932 patients with CLD and SARS-CoV-2 infection including 70 with autoimmune hepatitis (AIH). Fifty-eight (83%) of AIH patients were taking one or more immunosuppressive drug. There were no differences in rates of major outcomes between AIH and non-AIH CLD including hospitalization (76% vs 85%; p= 0.06), ICU admission (29% vs. 23%; p=0.240), and death (23% vs. 20%; p=0.643). Factors associated with death within the AIH cohort included age (OR 2.16/10 years; 1.07–3.81), Child-Turcotte-Pugh (CTP) class B (OR 42.48; 4.40–409.53), and CTP-C cirrhosis (OR 69.30; 2.83–1694.50), but not use of immunosuppression. Propensity score matched (PSM) analysis comparing AIH with non-AIH CLD demonstrated no increased risk adverse outcomes including death (+3.2%; -9.2%–15.7%). PSM analysis of AIH versus non-CLD patients (n=769) demonstrated increased risk of hospitalization with AIH (+18.4%; 5.6–31.2%), but equivalent risk of all other outcomes including death (+3.2%; -9.1%–15.6%). Conclusion AIH patients were not at increased risk of adverse outcomes despite immunosuppressive treatment compared to other causes of CLD and to matched cases without liver disease., Graphical abstract, Highlights • This is the largest cohort of patients with autoimmune hepatitis and laboratory proven SARS-COV-2 infection reported to date. • There were no differences in rates of major adverse COVID-19 outcomes including hospitalization, intensive care unit (ICU) admission, and death between AIH patients and those with other aetiologies of liver disease. • When compared to patients without liver disease in propensity score matched analysis, patients with AIH had higher rates of hospitalization but no increased risk of ICU admission or death despite potential reporting of AIH cases with more severe baseline liver disease. • Independent risk factors for death in AIH patients were age and baseline liver disease severity, but not the use of immunosuppression., Lay summary: Little is known about the outcomes of COVID-19 in patients with autoimmune hepatitis (AIH), a rare chronic inflammatory liver disease. This study combines data from three large registries to describe the course of COVID-19 in this patient group. We show that AIH patients do not appear to have an increased risk of death from COVID-19 compared to patients with other forms of liver disease and compared to patients without liver disease, despite the use of medications which suppress the immune system.

OBTECTIVE: To determine the incremental yield of standardized addition of chest CT to abdominal CT to detect COVID-19 in patients presenting with primarily acute gastrointestinal symptoms requiring abdominal imaging. SUMMARY BACKGROUND DATA: Around 20% of patients with COVID-19 present with gastrointestinal symptoms. COVID-19 might be neglected in these patients, as the focus could be on finding abdominal pathology. During the COVID-19 pandemic several centers have routinely added chest CT to abdominal CT to detect possible COVID-19 in patients presenting with gastrointestinal symptoms. However, the incremental yield of this strategy is unknown. METHODS: This multicenter study in six Dutch centers included consecutive adult patients presenting with acute non-traumatic gastrointestinal symptoms, who underwent standardized combined abdominal and chest CT between March 15, 2020 and April 30, 2020. All CT scans were read for signs of COVID-19 related pulmonary sequelae using the CO-RADS score. The primary outcome was the yield of high COVID-19 suspicion (CO-RADS 4-5) based on chest CT. RESULTS: A total of 392 patients were included. Radiologic suspicion for COVID-19 (CO-RADS 4-5) was present in 17 (4.3%) patients, eleven of which were diagnosed with COVID-19. Only five patients with CO-RADS 4-5 presented without any respiratory symptoms and were diagnosed with COVID-19. No relation with community prevalence could be detected. CONCLUSION: The yield of adding chest CT to abdominal CT to detect COVID-19 in patients presenting with acute gastrointestinal symptoms is extremely low with an additional detection rate of around 1%.

Objective: : To develop an international Core Outcome Set (COS), a minimal collection of outcomes that should be measured and reported in all future clinical trials evaluating treatments of acute simple appendicitis in children.Summary Background Data: A previous systematic review identified 115 outcomes in 60 trials and systematic reviews evaluating treatments for children with appendicitis, suggesting the need for a COS.Methods: The development process consisted of four phases: (1) an updated systematic review identifying all previously reported outcomes, (2) a two-stage international Delphi study in which parents with their children and surgeons rated these outcomes for inclusion in the COS, (3) focus groups with young people to identify missing outcomes, and (4) international expert meetings to ratify the final COS.Results: The systematic review identified 129 outcomes which were mapped to 43 unique outcome terms for the Delphi survey. The first-round included 137 parents (eight countries) and 245 surgeons (10 countries), the second-round response rates were 61% and 85% respectively, with ten outcomes emerging with consensus. After two young peoples’ focus groups, two additional outcomes were added to the final COS (12): mortality, bowel obstruction, intra-abdominal abscess, recurrent appendicitis, complicated appendicitis, return to baseline health, readmission, reoperation, unplanned appendectomy, adverse events related to treatment, major and minor complications.Conclusion: An evidence-informed COS based on international consensus, including patients and parents has been developed. This COS is recommended for all future studies evaluating treatment of simple appendicitis in children, to reduce heterogeneity between studies and facilitate data synthesis and evidence-based decision-making.

Introduction The standard approach to thyroidectomy is a collar incision via the anterior neck, and the neck scar has always been a source of worry for patients. Acceptable wound cosmetology has become a focus for thyroid surgeons. Objective To verify the effectiveness and cosmetic results of thyroidectomy through a lateral supraclavicular incision. Methods 180 patients were randomly divided into two groups: a lateral supraclavicular approach and a conventional transcervical approach. The main outcomes included incision length, intraoperative blood loss, operative time, total drainage volume, hospitalization expense, early postoperative pain measured by visual analog scale, infection, and perceived cosmetic outcome. Results There were no statistical significances between the two groups in terms of age, gender, nodule size, intraoperative blood loss, operative time, total drainage volume, hospital expense and postoperative complications, whereas there were significant differences in terms of incision length (5.2 ± 1.04 cm vs. 6.9 ± 1.14 cm, p < 0.05). Conclusions The lateral supraclavicular incision is a safe and feasible approach for thyroidectomy. Compared with conventional approach, it provides a better cosmetic result. Resumo Introdução A abordagem padrão para tireoidectomia é uma incisão em colar na face anterior do pescoço; a cicatriz no pescoço sempre foi uma fonte de preocupação para os pacientes; consequentemente, a cosmetologia aceitável da ferida tornou‐se um foco de atenção para os cirurgiões de cabeça e pescoço. Objetivos Verificar a eficácia e os resultados cosméticos da tireoidectomia por meio de incisão supraclavicular lateral. Método Foram divididos aleatoriamente 180 pacientes em dois grupos: um grupo supraclavicular lateral (Grupo LS) e outro transcervical convencional (Grupo TC). Os desfechos principais incluíram comprimento da incisão, perda de sangue intraoperatória, tempo cirúrgico, volume total de drenagem, despesas hospitalares, dor no pós‐operatório imediato medida através de escala visual analógica, infecção e resultado cosmético percebido. Resultados Não houve significância estatística entre os dois grupos em termos de idade, sexo, tamanho do nódulo, perda sanguínea intraoperatória, tempo cirúrgico, volume total de drenagem, custo hospitalar e complicações pós‐operatórias, mas houve diferença significante em termos de comprimento da incisão (5,2 ± 1,04 cm vs. 6,9 ± 1,14 cm, p < 0,05). Conclusão A incisão supraclavicular lateral é uma abordagem segura e viável para tireoidectomia. Em comparação com a abordagem convencional, oferece um melhor resultado cosmético.

Resumen La pancreatitis autoimmune es una manifestacion caracteristica del espectro de la enfermedad relacionada con IgG4, trastorno raro de tipo autoinmune que se presenta clinicamente con ictericia obstructiva debido a la infiltracion de celulas plasmaticas y fibrosis en el pancreas; puede presentarse con otra sintomatologia en caso de afectacion de otros organos y en muy raras ocasiones hay compromiso hematologico. Se presenta el caso de un hombre adulto con signos de colestasis secundaria a una pancreatitis autoinmune tipo i , con compromiso de otros organos y asociada con trombocitopenia que mejoro con el tratamiento inmunosupresor a base de corticoide sistemico, luego del cual se observo una evolucion favorable en cuanto a la clinica y analitica en el transcurso del tiempo.

Resumen Los quistes broncogenicos se originan de anomalias en el desarrollo del arbol traqueobronquial durante el periodo embrionario temprano. Su localizacion mas frecuente es el mediastino posterior. Los quistes broncogenicos de localizacion retroperitoneal son raros y mas todavia los intrapancreaticos. Presentamos un caso de un quiste broncogenico intrapancreatico asintomatico en un hombre de 61 anos detectado casualmente en una revision urologica.

Resumen Los quistes intestinales (tailgut cyst), o hamartomas quisticos retrorrectales, son lesiones benignas raras que se incluyen en la categoria de lesiones quisticas del desarrollo. Aunque existen varias hipotesis con respecto a su desarrollo, actualmente sigue sin conocerse con certeza su origen. Se localizan principalmente en el espacio presacro (retrorrectal) y afectan fundamentalmente a mujeres de edad media (40-60 anos). Teniendo en cuenta su localizacion y caracteristicas histologicas, los principales diagnosticos diferenciales incluyen quistes epidermoides, quistes de duplicacion y teratomas. La transformacion maligna de estas lesiones es rara, la mayoria en forma de adenocarcinoma y tumores neuroendocrinos. Nosotros presentamos un caso de un quiste intestinal asociado a tumor neuroendocrino bien diferenciado (G1) en una mujer de 63 anos.

Resumen El higado ectopico (HE) es una entidad infrecuente, debida a la migracion aberrante de las celulas hepaticas durante la embriogenesis. La incidencia se estima entre el 0,24 y el 0,47%. Puede presentarse en numerosas localizaciones, siendo la vesicula la localizacion mas comun. Existen alrededor de 100 casos publicados de HE, de los cuales 28 han desarrollado carcinoma hepatocelular (CHC); mientras que el higado ortotopico no presenta ninguna alteracion; todos provienen de la literatura asiatica y caucasica. Reportamos el caso de un paciente de 42 anos con lesion solida de 17 × 12 × 12 cm, aparentemente dependiente de la pared posterior del cuerpo gastrico, y con desplazamiento de numerosas visceras, sugiriendo como posibilidad diagnostica GIST. Mientras que, otras estructuras como el higado y las vias biliares fueron topograficamente normales. El estudio anatomopatologico concluyo que la tumoracion descrita correspondia a un CHC originado en un HE.

The bleeding from the upper gastrointestinal tract represent a significant medical but also socio-economic problem.A special group of patients et increased risk consists of critically ill patients in intensive care units. Particularly significant cause of bleeding in intensive care unit patients is bleeding resulting from the stress ulcers caused by damage of themucosa of the stomach and duodenum. The purpose of this review is to present current experience in prevention of upper gastrointestinal tract bleeding using proton pump inhibitors in intensive care units. Combination of endoscopic hemostatic methods and proton pump inhibitors represents golden standard in most cases. Despite some adverse effects treatment with proton pump blockers is essential when upper gastrointestinal tract bleeding appears in critically ill patients in intensive care units. Proton pump inhibitors are more effective in acid suppression, as well as in the prevention of recurrent bleeding after endoscopic hemostasis than histamine 2 receptor blockers. The efficacy of proton pump blockers is higher in the case of a continuous intravenous infusion than in the intermittent mode of administration of the drug. The need for highly elaborate strategy for the prophylaxis of bleeding from the upper parts of gastrointestinal tract in intensive care units is essential, because when it occurs in intensive care units, mortality is high, and therapeutic options become narrow.

ZusammenfassungDie Immunsuppression ist eine wesentliche Grundvoraussetzung für eine erfolgreiche Transplantation. Zur Reduktion der teils beträchtlichen Nebenwirkungen werden Kombinationstherapien mit unterschiedlichen Wirkstoffen durchgeführt. Dieser Beitrag soll einen aktuellen Überblick zur Immunsuppression nach Leber- und Nierentransplantation geben.

Mucocele of the apendix is a rare clinical and pathological entity with a higher incidence in the female population, and non-specific symptomatology that includes more diagnoses including neoplastic and non-neoplastic causes of the apendix dilation and mucin proliferation. With obtained numerous variations in symptomatology, clinical picture, intraoperative presentation, surgical treatment and histopathological findings, the aim of this paper is an inspection into current knowledge of this disease, its histopathological characteristics, differential diagnosis and current treatment modalities. We present a patient with a clinical picture of the acute abdomen and numerous comorbidities. Ultrasound diagnostics indicated the presence of thin-walled dilatation of the small intestine, especially in the lower right quadrant, as well as the presence of free fluid in the peritoneal cavity. Apendectomy and removal of the mucocele and resection of the gangrenous sigmoid colon according to Hartmann were done. A definitive histopathological finding suggests ischemic colitis and retention mucocele of the apendix with normal mucosa. Histopathologically, four types of mucocele apendixes are distinguished, namely the retention mucinous cyst, mucosal hyperplasia, mucinous cystadenoma and mucinous cystadenocarcinoma. Surgical treatment is the method of choice in treating these tumors, either open or laparoscopic. Imperative is the preservation of the integrity of the entire mucocele, due to the possible dissemination of contents of the cyst and the subsequent development of pseudomyxoma peritonei.

This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: To assess the beneficial and harmful effects of exercise interventions in adults after liver transplantation.

A 21-year-old woman visited out hospital for lower abdominal pain and bloody diarrhoea at 19 weeks of pregnancy. Endoscopic findings revealed longitudinal ulcerations with hyperaemia and oedema in the sigmoid colon. These findings and clinical presentation confirmed the diagnosis of ischaemic colitis. Conservative treatment, including fasting and intravenous hydration, was administered, and the patient made a good recovery. After discharge, there was no recurrence during pregnancy and postpartum period. It is important to make early diagnosis and treatment, and multidisciplinary teamwork between obstetricians, gastroenterologist and endoscopist is required.

The development and refinement of endoscopic stenting techniques in recent years have made endoscopic treatment an important part of palliative care for irresectable malignant disease in the gastrointestinal tract. We present the case of a 82-year-old man with biliary obstruction and duodenal stenosis on the basis of disseminated pancreatic cancer. He was bothered by jaundice and reduced oral intake. This is typically alleviated using stents; however, the placement of a duodenal stent can limit the possibility of subsequent placement of a biliary stent. This therapeutic challenge was solved using a combination of lumen-apposing metal stents (LAMS) and self-expanding uncovered metal stents (SEMS). LAMS is a relatively novel type of stent intended for endoscopic ultrasonography-guided placement. First, we placed a SEMS in the duodenum, a LAMS was subsequently placed through the mesh of the duodenal SEMS, alleviating the biliary system. The patient was able to resume oral intake and his jaundice subsided.

Endoscopic procedures are the front-runner of the management of bleeding duodenal ulcer. Rarely, surgical intervention is sought for acute bleeding, not amenable to endoscopic procedures. Oversewing of the gastroduodenal artery at ulcer crater by transduodenal approach is the most acceptable and recommended method of treatment. We describe a case of an intraoperative duodenal injury that occurred during an attempt to oversew the gastroduodenal artery after a duodenotomy, leading to an unsatisfactory and meagre duodenal stump. This case will highlight the intraoperative turmoil, postoperative complications and management of a series of anticipated but unfortunate events that have rendered us wiser in terms of surgical management of a bleeding duodenal ulcer.

Rectal duplication cysts are rare congenital anomalies of the gastrointestinal tract. They can present with pain, gastrointestinal bleeding, infection or compressive symptoms on the rectum and urinary bladder. A 79-year-old man presented with a 8×5 cm swelling in the sacral region above the natal cleft with a positive cough impulse. During surgical exploration, there were two cysts with the posterior one presenting as the hernia. The cyst was excised and histopathological examination confirmed a diagnosis of rectal duplication cyst. Rectal duplications can lie anterior or more commonly posterior to the rectum. Differential diagnoses include dermoid cyst, diverticular cyst, sacrococcygeal teratoma or meningocele and endoscopic ultrasound is imaging of choice for diagnosis. Surgical excision is the treatment of choice. This is a rare presentation of a rectal duplication cyst as a perineal hernia with only a handful of cases in literature.

Hepatitis E virus (HEV)-associated neuralgic amyotrophy (NA) is often bilateral and severe, involving structures outside the brachial plexus, such as the phrenic nerves or the lumbosacral plexus. We report a case of an HEV-positive man who had presented with brachial neuritis, with significant phrenic nerve involvement, resulting in diaphragmatic paralysis requiring non-invasive ventilation. Prognosis of HEV-associated NA is often unfavourable and recovery is usually incomplete. Identifying HEV-associated NA early could potentially aid in prognostication and management planning, as clinicians and patients would be expectant of its potential features and severity. Respiratory function should be monitored in patients with HEV who suffer from NA, as diaphragmatic paralysis could potentially lead to severe respiration difficulties requiring ventilatory support.

A 77-year-old woman presented with a 2-week history of malaise, prostration, anorexia, abdominal pain, vomiting and diarrhoea. She had been taking systemic corticosteroids for the past year. During hospitalisation, renal insufficiency, ionic changes and liver function abnormalities were detected and corrected. However, the patient developed total dysphagia. UGE revealed multiple shallow ulcers below the cricopharyngeal level and in the distal oesophagus, with normal-appearing intervening mucosa. Histological examination allowed the diagnosis of herpes simplex virus esophagitis. Treatment with intravenous acyclovir was instituted for 14 days. In the elderly, herpetic esophagitis may present with non-specific complains, such as prostration or anorexia. In the reported case, dysphagia was only detected as a late symptom, addressing the importance of maintaining a high degree of suspicion for the diagnosis of herpes simplex virus esophagitis.

A young male in his early 30s presented to us with increasing swelling at the umbilicus, and an umbilical hernia was diagnosed. At laparoscopic intraperitoneal onlay mesh (IPOM) repair, an unexpected finding of a thin innocuous-looking fibrous film over the small bowel was noted. This finding presented a dilemma as to the probable pathology of this material, and a decision had to be made on whether laparoscopic IPOM could be continued. It was prudently decided to abandon the plan of placing a mesh intraperitoneally and an open repair of the umbilical hernia was done. In retrospect this was a wise decision, as, after 7 months he had to have a laparotomy for intestinal obstruction, when the classic thick fibrous encapsulating abdominal cocoon was seen. Hence here we have followed the evolution of the abdominal cocoon from its original asymptomatic phase to the classic encapsulating sclerosing peritonitis with probably laparoscopic gas insufflation being the precipitating factor.

Swallowing is a complex activity requiring a sophisticated system of neurological control from neurones within the brainstem, cerebral cortices and cerebellum. The cerebellum is a critical part of the brain responsible for the modulation of movements. It receives input from motor cortical and sensory areas and fine tunes these inputs to produce coordinated motor outputs. With respect to swallowing, numerous functional imaging studies have demonstrated increased activity in the cerebellum during the task of swallowing and damage to the cerebellum following differing pathological processes is associated with dysphagia. Single pulses of transcranial magnetic stimulation (TMS) have been applied to the cerebellum and have been shown to evoke motor responses in the pharynx. Moreover, repetitive TMS (rTMS) over the cerebellum can modulate cerebral motor (pharyngeal) cortical activity. Neurostimulation has allowed a better understanding of the connections that exist between the cerebellum and cerebral swallowing motor areas in health and provides a potential treatment for neurogenic dysphagia in illness. In this review we will examine what is currently known about the role of the cerebellum in the control of swallowing, explore new findings from neurostimulatory and imaging studies and provide an overview of the future clinical applications of cerebellar stimulation for treating dysphagia. ispartof: DYSPHAGIA vol:38 issue:2 pages:497-509 ispartof: location:United States status: published

Double filtration plasmapheresis (DFPP) is an apheretic technique that selectively removes high molecular weight substances using a plasma component filter. DFPP has been used to treat positive-sense RNA virus infections, mainly chronic hepatitis C virus (HCV) infection, because of its ability to directly eliminate viral particles from blood plasma from 2008 to about 2015, before direct-acting antiviral agents was marketed. This effect has been termed virus removal and eradication by DFPP. HCV is a positive-sense RNA virus similar to West Nile virus, dengue virus and the SARS and Middle East respiratory syndrome coronaviruses. SARS-CoV-2 is classified same viral species. These viruses are all classified in Family Flaviviridae which are family of single-stranded plus-stranded RNA viruses. Viral particles are 40–60 nm in diameter, enveloped and spherical in shape. We present a rare case of HCV removal where an RNA virus infection that copresented with virus-associated autoimmune hepatitis was eliminated using DFPP. Our results indicate that DFPP may facilitate prompt viraemia reduction and may have novel treatment applications for SARS-CoV-2, that is, use of therapeutic plasma exchange for fulminant COVID-19.

In addition to the legs, restless legs syndrome (RLS) affects various other parts of the body, including the arms, abdomen, face, head-neck, oral cavity, genital area and bladder. RLS is also associated with several comorbid conditions, including irritable bowel syndrome (IBS). We are reporting two cases of RLS who also had IBS, fulfilling the Rome IV criteria. The administration of levodopa and dopamine agonists provided a complete improvement in both IBS and RLS. Review of the literature suggest that the clinical semiology and clinical pattern of IBS (urge to defaecate, abdominal pain, abdominal distension, bloating, disturbed sleep and circadian rhythm) simulate the semiology and pattern of RLS. Similarities are also noted in the associated comorbid conditions, effective drugs and proposed hypotheses for both clinical syndromes. We hypothesise that RLS may affect intestine, and IBS-like symptoms in a subset of patients with RLS may be the part of RLS symptoms complex.

Oesophageal anastomotic stricture is a frequent complication after esophagectomy. In most cases, endoscopic bougination or balloon dilation usually resolves anastomotic stricture. However, some refractory oesophageal strictures remain difficult to treat and cause significant morbidity. Recently, successful treatment using endoscopic incisional therapy has been reported in several cases. We report a case of refractory benign oesophageal anastomotic stricture after oesophagectomy. A 72-year-old man underwent three consecutive bouginations. However, he developed progressive stricture. Stricture was successfully treated with an endoscopic knife incision. We performed only three incisions without a cutting method, which was new compared with previous reports. A new simple endoscopic incision technique is effective and safe for stricture management. In conclusion, endoscopic incisional therapy may be recommended as a salvage treatment for properly selected patients with refractory benign stricture who do not respond to conventional therapy.

Gastrointestinal stromal tumours (GISTs) are rare - and rectovaginal extragastrointestinal stromal tumours (RV-EGISTs) even rarer. We share a case of RV-EGIST, complemented by high-quality radiological and surgical images. A review of current literature pertaining to RV-EGIST is also included. Our case report highlights the diagnostic challenge presented by extragastrointestinal stromal tumours. Differentiated from overlapping pathologies only by targeted application of immunohistopathology and cytogenetics, the inclusion of RV-EGIST in the differential diagnosis of a rectovaginal tumour is essential to making this correct diagnosis. Primary surgery is the treatment of choice for RV-EGIST if complete cytoreduction can be achieved, combined with adjuvant tyrosine kinase inhibitor (TKI) therapy for those with high-risk features to further reduce rates of future recurrence.