Rare Pathology Research Articles

Treatment Strategies for Unknown Anatomic Pathology Ventriculus Terminalis Case Series: Single Center Experience

The ventriculus terminalis is a cavity in the conus medullaris, bounded by ependymal cells, associated with the central canal. It is an anatomical structure that is very rare in adults, with a limited number of surgical cases that have been reported in the literature. In children, it is regarded as a normal congenital variation, known to regress before five years of age, and very few symptomatic cases have been reported in both pediatric and adult populations. It is often asymptomatic in adults and is detected incidentally. Although potentially nonsignificant individually, symptoms can range from nonspecific low back pain to sphincter dysfunction and focal neurologic deficits. Our purpose is to discuss our management strategy in comparison to the existing literature. A retrospective review was conducted of all adult patients (aged 17 years and older) diagnosed with ventriculus terminalis who were referred to the hospital between 2010 and 2020. Clinical classification was made according to the classification defined by Batista. In addition, Ganau's classification was also used. Five patients were included in the study. The majority of these patients (n=4, 80%) were symptomatic at the time of diagnosis, with nonspecific back pain being the most common symptom (n=3, (60%). None of the patients required neurosurgical intervention during the follow-up period of 21.6±8.9 months, as there was no clinical deterioration observed. Ventriculus terminalis is a rare pathology that may develop de novo in adults, often remaining undiagnosed until the cyst enlarges, and can manifest with a wide spectrum of symptoms. When identified, it requires careful management, involving surgery when necessary and a conservative approach when appropriate.

Evolution of the doctrine of Zollinger-Ellison syndrome. Literature review

Zollinger–Ellison syndrome (ZES) is a rare pathology that does not have specific clinical manifestations and is not always diagnosed in time. This is attributed to doctors’ insufficient awareness of this pathology and the limited availability of the necessary examination methods. Foreign literary sources on this problem are analysed. Historical data regarding the discovery of this pathology and the origin of the syndrome’s name are provided. The epidemiology of the disease is highlighted. The most characteristic clinical manifestations and possible complications of ZES are described in detail. The characteristic changes in gastric acid production associated with this pathology and their diagnostic value (sensitivity and specificity) are presented. At the same time, indicators of both basal and maximal stimulated gastric acid production are significantly increased. The most important stage in the examination of patients with suspected ZES is the determination of blood gastrin levels. At the same time, it is shown that it is not always possible to make definitive judgements in support of ZES based on gastrin indicators. An absolute criterion in favor of ZES is fasting gastrin values of 1000 pg/ml or more. When gastrin levels are less than this indicator, tests using secretin or calcium gluconate have significant diagnostic value. In these circumstances, tests with secretin or calcium gluconate are mandatory. The information on the possible localization of gastrin, the incidence of malignant transformation, and the mechanism of metastasis is given. Methods of determining gastrin localization, sensitivity, and specificity are described in detail. Based on the findings, a differentiated treatment strategy for patients with ZES is provided. Indications and contraindications for surgical and medical treatment of patients with ZES are given. The prospects of a new treatment direction ‑ the use of targeted radiotherapy ‑ are shown. These patients require constant monitoring by a gastroenterologist and a surgeon and periodically undergo the necessary examinations.

Ectatic vertebral artery associated medullary compression treated with microvascular decompression: a case report and review of literature

BackgroundVertebral artery compression syndrome is a rare condition defined as the clinical presentation of dizziness, vertigo, ataxia, dysarthria, dysphagia, progressive or acute paralysis, hemisensory loss, and cervical myelopathy secondary to compression of the medulla and upper spinal cord by the vertebral artery.Case descriptionHere we describe a 57-year-old Mexican–American male with bulbar symptoms, positional vertigo, and diplopia. The patient’s symptoms were managed through microsurgical decompression of the medulla utilizing a far lateral transcondylar approach. The patient reported clinical improvement on follow-up.ConclusionThis case underscores the clinical complexity and heterogeneity of this rare neurovascular pathology and the importance of elucidating the pathophysiological mechanisms underlying the symptomatic presentation of vertebral artery compression syndrome.

RFMiD: Retinal Image Analysis for multi-Disease Detection challenge

In the last decades, many publicly available large fundus image datasets have been collected for diabetic retinopathy, glaucoma, and age-related macular degeneration, and a few other frequent pathologies. These publicly available datasets were used to develop a computer-aided disease diagnosis system by training deep learning models to detect these frequent pathologies. One challenge limiting the adoption of a such system by the ophthalmologist is, computer-aided disease diagnosis system ignores sight-threatening rare pathologies such as central retinal artery occlusion or anterior ischemic optic neuropathy and others that ophthalmologists currently detect. Aiming to advance the state-of-the-art in automatic ocular disease classification of frequent diseases along with the rare pathologies, a grand challenge on “Retinal Image Analysis for multi-Disease Detection” was organized in conjunction with the IEEE International Symposium on Biomedical Imaging (ISBI - 2021). This paper, reports the challenge organization, dataset, top-performing participants solutions, evaluation measures, and results based on a new “Retinal Fundus Multi-disease Image Dataset” (RFMiD). There were two principal sub-challenges: disease screening (i.e. presence versus absence of pathology — a binary classification problem) and disease/pathology classification (a 28-class multi-label classification problem). It received a positive response from the scientific community with 74 submissions by individuals/teams that effectively entered in this challenge. The top-performing methodologies utilized a blend of data-preprocessing, data augmentation, pre-trained model, and model ensembling. This multi-disease (frequent and rare pathologies) detection will enable the development of generalizable models for screening the retina, unlike the previous efforts that focused on the detection of specific diseases.

Thyroglossal Duct Cyst Carcinoma: Our 12-year Experience in a Tertiary Care Centre.

Malignant transformation in thyroglossal duct cyst is an extremely rare occurrence, papillary carcinoma being the most common type of malignancy. In this study, we present our 12-years experience on this rare pathology. Records of all the patients with thyroglossal duct cyst and thyroid malignancies who were managed between January 2011 and December 2022 were reviewed retrospectively. The data was recorded and studies. Descriptive statistics were used to summarize the data. Out of 112 cases of thyroglossal duct cyst, 11 adult patients had associated carcinoma. Their age ranged from 20 to 68 years with a median age of 32 years. The most common presentation was anterior midline painless neck swelling. The diagnosis was made on final histopathological examination post-operatively. Alignant change is rare complication of the most common congenital thyroid anomaly. This study highlights the occurrence of this disease in adults and provides data on manifestation and management of this rare disease.

A rare pathology that mimics lung cancer: IgG4-related vasculitis.

Immunoglobulin-G4 (IgG4)-related disease is essentially a fibro-inflammatory disease that can affect any organ simultaneously or at different times. The disease usually presents with organ growth that mimics a tumour and can affect the lacrimal glands, major salivary glands, pancreas, bile ducts, retroperitoneal area, lungs, kidneys, aorta, meninges and thyroid gland. The immunopathogenesis behind this new disease has not yet been elucidated. Histopathological distinguishing features of the disease include dense lymphoplasmocytic infiltrates dominated by IgG4 positive plasma cells, storiform fibrosis and obliterative phlebitis. The likelihood of developing with immunoglobulin G4 (IgG4-RD) is a recently identified rare systemic fibroinflammatory disease with an estimated incidence of less than 1 in 100,000 people worldwide. We present our case, which was diagnosed with IGG4-related vasculitis by lung fine needle aspiration biopsy, which is very rare in the literature.

S3759 Why Rare Pathology Should Never Go Overlooked: A Case Report of Splenic Rupture

S3759 Why Rare Pathology Should Never Go Overlooked: A Case Report of Splenic Rupture

TVE in the management of rare diseases in hematology: raising the "Dephi" bar

Launched in 2022 at the Policlinique d'hématologie et d'immunologie (PHI) of the Centre hospitalier(CH) Saint-Louis, the therapeutic patient education (TPE) program for patients suffering from rare hematology pathologies is continuing to develop. It has led to the creation ofan TPE team. To date, two workshops are up and running, and a third is nearing completion.

Mid-jejunal diverticulitis with closed-loop bowel obstruction, strangulation, and contained perforation.

Closed-loop bowel obstruction and contained perforation secondary to acute on chronic jejunal diverticulitis is rare and should be included in the differential diagnosis of acute abdomen. The association between polymyalgia rheumatica and diverticular disease requires further research but may prompt clinicians to consider appropriate therapies in patients with both diseases. Jejunal diverticulosis is a sac-like outpouching of the intestinal wall that can cause complications such as diverticulitis, obstruction, abscess, perforation, or fistula formation. Complicated jejunal diverticulosis may present with acute abdomen and nonspecific symptoms which can lead to misdiagnosis and delayed treatment. A 76-year-old male with a remote history of polymyalgia rheumatica (PMR) presented with sudden onset abdominal pain, fever, nausea, vomiting, and inability to pass flatus. Physical exam revealed a distended and diffusely tender abdomen with signs of peritonitis. Laboratory test results were significant for neutrophil-dominant leukocytosis and elevated inflammatory markers. CT scan of the abdomen with IV contrast revealed a contained perforation and a closed-loop small bowel obstruction in the mid-abdomen. The patient underwent emergent exploratory laparotomy and resection of 100 cm of mid-jejunum which was found to have numerous diverticula surrounding the closed-loop obstruction and contained perforation. Pathology findings showed evidence of acute on chronic jejunal diverticulitis. Jejunal diverticulosis with complications may present with an acute abdomen and peritonitis. Closed-loop bowel obstruction and contained perforation secondary to acute on chronic jejunal diverticulitis is uncommonly thought of and should be considered in the differential diagnosis. Additionally, the association between PMR and diverticular disease is notable. While the patient had a remote history but no active PMR on presentation, studies suggest a possible association between gut inflammation and rheumatologic disease. This association should prompt clinicians to consider appropriate therapies and bear in mind the potential risk for diverticular perforation if glucocorticoids are given to treat PMR. Jejunal diverticulosis with multiple complications such as closed-loop bowel obstruction and contained perforation secondary to acute on chronic jejunal diverticulitis is rare and may present with an acute abdomen and nonspecific symptoms. Including rare pathologies as such in the differential diagnosis may prevent misdiagnosis and delayed treatment. While further investigation is needed, the association between diverticulosis and PMR is noteworthy as patients who present with both diseases would require mindful management due to the potential risk of diverticular perforation after treatment with steroids.

Drug-resistant schizophrenia-like psychosis associated with temporal non-anaplastic pleomorphic xanthoastrocytoma: unusual revealing symptom of a rare pathology

Introduction and importance: Pleomorphic xanthoastrocytoma (PXA) was first described by Kepes et al. in 1979. Fewer than 200 cases have been reported in the literature. It generally involves the temporoparietal lobe. PXA has a favorable prognosis. The most reported clinical manifestation is epileptic seizures. Revealing psychiatric symptoms have an incidence varying from 50 to 78%. The most common symptoms encountered are anxiety disorders, depression, schizophrenia-like psychosis, cognitive dysfunction or even anorexia nervosa. Case presentation: Here, the authors report a new case of non-anaplastic pleomorphic xanthoastrocytoma revealed by a drug-resistant schizophrenia-like psychosis in a 26-year-old male patient known with epileptic seizures in whom these two pathologies were intertwined and had been evolving for 5 years. The postoperative course was uneventful, and positive symptoms of schizophrenia were relatively stabilized at discharge. Clinical discussion: Given the superficial hemispheric location of PXA, the most common clinical presentation is seizures. Psychiatric symptoms revealing brain tumors have an incidence varying from 50 to 78%. Most of these symptoms concern frontal and limbal tumors. In their case, the tumor was located in the right temporal lobe. Surgery was performed and postoperative course was uneventful even though there are conflicting reports regarding the importance of the surgical excision quality. Conclusion: PXA remains a rare and benign primary CNS tumor. Psychiatric disorders represent a rare revealing mode of this pathology, which must lead to neuroimaging in any patient carrying this type of symptoms.

Surgical treatment of Trapezo-metacarpal luxation

Introduction: Trapeziometacarpal dislocation, often resulting from violent trauma in young people, is generally diagnosed clinically and by imaging. It can cause instability of the first column and promote the development of rhizarthrosis . The treatment of fresh dislocations gives rise to debates between orthopedic and surgical approaches. This series reports a number of cases rarely exceeding fifteen. Material and method: This is a retrospective series of five cases of trapezio -metacarpal dislocation collected between January 2017 and October 2022 in the trauma-orthopedics department of Wing 4 of the Ibn Rochd University Hospital in Casablanca. Results: The patients were mainly men with an average age of 34 years, with lesions mainly located on the right side and caused by road accidents or falls. The diagnosis was confirmed by radiographs, mainly revealing isolated trapeziometacarpal dislocations. Treatment consisted of percutaneous metacarpo - trapezius pinning , with good short-term results for all patients. Discussion: Trapeziometacarpal dislocation is a rare pathology. Its diagnosis is based on radiological examinations and therapeutic approaches such as trapeziometacarpal pinning. Conclusion: Treatment by reduction followed by pin stabilization seems to offer satisfactory results for trapeziometacarpal dislocation.

Un caso de exoftalmos progresivo en una niña de 5 años

Introduction: spindle cell sarcoma is a rare tumor, with little presentation in the literature. Soft tissue tumors constitute a heterogeneous group, requiring a multidisciplinary approach. Clinical case: 5-year-old schoolboy who goes to his pediatrician for exophthalmos. His mother refers a progressive proptosis in the left eye of 6 months of evolution. No loss of visual acuity, in the last weeks intermittent pain with eye movements. On examination proptosis of the left eye with intermittent tearing and vascular lesion in the temporal portion of the same eye, he presented restriction of left eye movements. He was referred to the hospital emergency department where a head CT scan (Figure 1,2) was performed, revealing a unilateral left retroorbital lesion measuring 28 x 14 mm, causing proptosis, mass effect on retroocular structures and loss of ocular sphericity. Given the findings in the imaging tests, it was decided surgical intervention by means of frontotemporal craniotomy, subsequently receiving complementary treatment with local radiotherapy. Due to negative molecular pathology studies, the result was finally interpreted as undifferentiated 'adult-type' spindle cell sarcoma. Conclusion: although undifferentiated spindle cell sarcoma is a rare pathology, it should be included in the differential diagnosis of retro-orbital pathologies. The objective of this case is to review the main characteristics of spindle cell sarcoma, given its rapid and aggressive form of presentation, in a rare tumor.

A clinical case of gastrointestinal stromal tumor of the duodenum

Background. Gastrointestinal stromal tumors localized in the duodenum are very rare and account for only 4–5%. They can be asymptomatic, while reaching large sizes and causing dangerous complications. Gastrointestinal stromal tumors of the duodenum are a special problem for diagnosis and treatment. Therefore, it is relevant to highlight the issue of their detection and treatment on the example of the presented clinical case. Purpose – present a description of the literature and present a rare clinical case of gastrointestinal stromal tumor of the duodenum. Material and methods. The patient, a 49-year-old woman, was diagnosed with a tumor of the abdominal cavity during a routine preventive ultrasound examination. The patient underwent a laboratory and instrumental examination, which included determination of blood and urine parameters, video esophagogastroduodenoscopy, contrast x-ray examination of the gastrointestinal tract, contrast-enhanced computer tomography and contrast-enhanced magnetic resonance imaging of the abdominal cavity. Results. The patient underwent surgical resection of the tumor of the duodenum. During the immunohistochemical study, the tumor cells were positive for markers DOG-1, CD117. As a result, «Gastrointestinal stromal tumor of the wall of the duodenum of a low degree of malignancy pT2N0M0R0» was diagnosed. During the six-month follow-up of the patient, no data on tumor recurrence were found. The relatively rare frequency of gastrointestinal tumors of the duodenum leads to difficulties at the diagnostic stage. In this clinical case, the tumor was asymptomatic, was not visualized during video esophagogastroduodenoscopy and was suspected during ultrasound examination. This indicates the importance of preventive examinations. Oncological awareness of doctors is extremely important for early diagnosis of oncology. Conclusion. Based on the analysis of the literature, the data on the epidemiology, clinical picture, methods of diagnosis and treatment of this rare pathology are displayed.

Abdominal Parasitic Fibroids after Laparoscopic Surgery Using a Power Morcellation: A Novel Insight from Vietnam and a Narrative Revew of the Literature

Abstract Parasitic fibroid is a rare benign pathology that can be negotiated because of its rarity. The etiology remains unknown following prior intervention related to uterine fibroids. The assessment of this rare disease is usually based on clinical features and imaging modalities. In addition, appropriate management should be individualized where appropriate. Herein, we report an uncommon case at our center and raise proper recognition for all gynecologists. Particularly, in low-and middle-income countries such as Vietnam, where the health-care system is insufficient to follow-up the long-term postoperation. A 40-year-old woman (gravida 3, para 2) presented to the gynecologic examination room due the abdominal pain and increased size of abdominal circumference. The patient had undergone laparoscopy involving the power morcellator without a contained-bag system for myomectomy at our hospital 6 years prior. The imaging diagnostic tools showed multiple hypoechoic disseminated masses in the abdominal cavity. The laparotomy intervention and histopathological endpoints confirmed completely the diagnosis of parasitic fibroid. Although an extremely rare occurrence, parasitic fibroids should be informed to all patients after laparoscopic intervention for uterine fibroids. In addition, the diagnosis of parasitic fibroid should be warranted among the patients presenting with abdominal pain after a history of fibroid resection. The power morcellation in the contained bag, uterine extraction in hysterectomy, as well as relieving the surgical specimen of uterine fibroids should be gently performed to minimize fibroid tissue disruption.

Electrolyte Alteration in Bartter Syndrome: Case Report

Bartter syndrome is a clinical condition that presents with hyperaldosteronism, however, blood pressure is normal, this is associated with hypovolemia and high levels of PGE2. The clinical case of a pediatric patient who initially presents with significant electrolyte alterations with recurrently associated symptoms is presented. After several laboratory, imaging and genetic studies, she was diagnosed with Bartter Syndrome, for which she has been managed by several specialists. such as pediatric nephrology, genetics, and urology. The patient is currently under control and carries out her daily activities normally, under strict monitoring. It is the first clinical case of this characteristic reported in Ecuador, and contributes to those already registered worldwide, with the experience to contribute to a consensual management of this rare pathology.

Metástasis cerebral múltiple de adenocarcinoma pancreático. Reporte de caso

Introduction: Brain metastases are the most common malignant lesions in the central nervous system. Brain metastases from pancreatic cancer are very rare, with poor prognosis. The present paper aims to describe a rare pathology and the work carried out for the patient's care. Case report: 49-year-old man with personality changes, depression, and apathy. Five days before admission, he presented dysarthria, added left hemiparesis, and disorientation that progressed to sudden neurological deterioration that required advanced airway management. A computed tomography study was seen with cerebral cystic lesions. A decompressive craniectomy and drainage of the larger lesión was performed, with subsequent resection. The study protocol with immunohistochemistry reports CK 19, compatible with pancreatic adenocarcinoma. Conclusions: A rare case of multiple brain metastases and suspected lung metastasis, both secondary to primary pancreatic adenocarcinoma was presented. The patient began with symptoms associated with brain lesions. The incidence of brain metastases with a primary pancreatic tumor is very low, and this is an exceptional case when presenting with neurological symptoms. Surgical resection of the brain lesion had a limited role in the clinical improvement of the patient since the progression of the disease was rapid. Still, it was useful to establish a diagnosis by immunohistochemistry. Since there are no screening tests for pancreatic tumors, it is difficult to identify them in early stages and without gastrointestinal symptoms. Keywords: Pancreatic adenocarcinoma; brain tumors; brain metastases; cytokeratin 19; immunohistochemistry.

EP454 - Left Paraduodenal Hernia and Large Bowel Obstruction: A Case Report

Abstract Aims Internal hernias are uncommon and difficult to diagnose clinically. Of these, a paraduodenal hernia is the most common, but remains a rare condition. Cases reported in the literature are few and often describe small bowel obstruction as a result of small bowel herniation into the left paraduodenal space and lesser sac. Here we describe a case of left paraduodenal hernia resulting in large bowel obstruction. Method Written consent from the patient has been obtained to present the case and associated radiological and intra-operative images. A 50 year old male with no surgical history presented to the general surgical team via the emergency department with a 12 hour history of epigastric pain, vomiting, abdominal distension and 24 hours history of absolute constipation. CT showed a large bowel obstruction with a transition point in the mid transverse colon with a swirling of the mesentery and large bowel concerning for left paraduodenal hernia. Results Open laparotomy was the preferred approach. There was gross dilatation of the large bowel with a competent ileocaecal valve. The hepatic flexure was found herniating into the lesser sac under the ligament of Treitz. This was reduced and the large bowel decompressed via the appendix. The narrow based small bowel mesentery was expanded by dividing the mesenteric parietal peritoneum. The large defect was closed with interrupted non-absorbable sutures. The patient made an unremarkable post-operative recovery. Conclusion This is a rare pathology with interesting surgical anatomy and we present its radiological and intraoperative findings and operative management strategy.

FP7.9 - Caecal Volvulus with Ischaemia in Pregnancy Requiring Right Hemicolectomy

Abstract Background Caecal volvulus is a rare but significant pathology, accounting for 1-3% of all bowel obstructions. There are only 3 published case reports in pregnancy, and there is often a significant delay in diagnosis. Presentation A patient in her 30s was 22 weeks pregnant with her first baby conceived through IVF. She presented with a 2 hour history of severe epigastric pain and vomiting. Inflammatory markers were normal with lactate 3.5, which normalised after fluids. This was her third presentation of pain during pregnancy. She was treated as gastritis and kept in for observation. An ultrasound demonstrated free fluid with no cause. The patient remained in severe pain and repeat bloods demonstrated worsening inflammatory markers. By this time, MRI was no longer available so a CT occurred at 9pm which showed caecal volvulus with acute ischaemia. Treatment At emergency laparotomy, the diagnosis of caecal volvulus was confirmed with a non-viable ascending colon but no perforation or enteric contamination. A right hemicolectomy with ileocolic anastomosis was performed. She was admitted to ITU post-operatively, then stepped down to the ward on day 2 where she continued to make a good recovery and was discharged on day 5. Conclusion Caecal volvulus is a recognised cause of mechanical bowel obstruction in pregnancy but can be difficult to diagnose. Optimum outcome of surgical complications in pregnancy relies on optimum treatment of the mother. Pregnant patients with pain out of proportion to their clinical presentation need a low threshold for cross-sectional imaging, which should be discussed promptly with radiology.

Pre-implant surgery complexity for achieving implant-supported prosthetic rehabilitation in oligodontia patients: a retrospective study

IntroductionOligodontia is a rare dental developmental pathology that requires prolonged, complex and multidisciplinary treatment. Although bone augmentation is frequently required during a complete implant treatment of oligodontia. Therefore, we evaluated the ability to predict pre-implant surgery complexity based on age, number of missing teeth, and number of implants required to achieve implant-supported prosthetic rehabilitation.Material and methodsThis retrospectively registered study included all patients who underwent surgical treatment for oligodontia in our Oral and Maxillofacial Surgery Department between January 2012 and May 2023. Demographic data, number and location of missing teeth, pre- and per-implant surgical procedures, and the number of planned implants were recorded. A quantitative variable called “complexity score of pre-implant surgery” was created. This 10-point score was calculated by adding one point for each preimplant surgical procedure registered. A simple linear regression was calculated to explain the number of targeted implants based on number of missing teeth. A multiple linear regression model was used to explain the complexity score of pre-implant surgery and age, number of missing teeth and number of targeted implants.Results119 oligodontia patients were included in the study. The median number of tooth agenesis was 10. A total of 825 implants were placed, 14 (1.7%) of which failed. A significant regression equation was used (F(1,118) = 1098,338; p < 0.0001) to explain the number of targeted implants based on number of missing teeth, with a R2 of 0.903. A significant regression equation was found (F(3,116) = 107,229; p < 0.0001) to explain the complexity score of pre-implant surgery and age, number of missing teeth and number of targeted implants, with a R2 of 0.735.DiscussionThese results based on patient data indicate that age, number of missing teeth and number of targeted implants could reliably explain the complexity of pre-implant surgery.

Squamous Cell Carcinoma of the Penis in Two Cases at the Bamako Dermatology Hospital, Mali

Penile cancer is a rare pathology. Squamous cell carcinoma represents the most common histological type. Radical excision surgery, although often mutilating, remains the best treatment for localized stages. We retrospectively report the epidemiological, clinical, therapeutic and progressive characteristics of two clinical cases of penile cancer.