OpenMed/multicare-articles huggingface dataset:
Cyst of the canal of Nuck mimicking inguinal hernia
Authors: Uğur Topal, Ahmet Gökhan Sarıtaş, Abdullah Ülkü, Atılgan Tolga Akçam, Figen Doran
Journal: Int J Surg Case Rep (2018)
Keywords: canal of nuck, female hydrocele, inguinal hernia

Introduction:
Coley, in 1892, reported 14 cases of a hydrocele in women. He described this "affection" as being "too rare an anomaly to deserve consideration. The rarity of this finding continues to be described in more current literature of 400 cases.
Case presentation:
42-year-old woman presented to the clinic with a palpable mass in her left inguinal region. On physical examination, a soft-consistency, mobile mass of about 4 cm in size was seen in the left inguinal region. The cystic lesion which was seen to be originated from the inguinal canal was excised in the exploration made by suspending the round ligament by passing through the anatomical folds with the incision made from the left inguinal region. The defect was repaired with prolene mesh after high ligation. Patient was discharged on the 1st postoperative day.
Discussion:
In women, a round ligament is attached to the uterus close to the origin of the fallopian tubes, and the extension of the parietal peritoneum follows the round ligament as it passes to the inguinal canal through the internal ring. Hydroceles of the canal of Nuck were not conclusively diagnosed until surgery was performed on a suspected inguinal hernia. The treatment of Nuck canale hydroceles are surgery. Ligating the prosessus vaginalis and excision of the cyst in surgical treatment will prevent recurrences.
Conclusions:
Nuck canal cysts should be considered in the differential diagnosis of cases of female patient's complaints of swelling in the inguinal region.
Recurrent volvulus of an ileal pouch requiring repeat pouchopexy: a lesson learnt
Authors: Pär Myrelid, Pelle Druvefors, Peter Andersson
Journal: Case Rep Surg (2014)

Introduction. Restorative surgery for ulcerative colitis with ileal pouch anal anastomosis (IPAA) is frequently accompanied by complications. Volvulus of the ileal pouch is one of the most rarely reported late complications and to our knowledge no report exists on reoperative surgery for this condition. Case Report. A 58-year-old woman who previously had undergone restorative proctocolectomy due to ulcerative colitis with an IPAA presented with volvulus of the pouch. She was operated with a single row pouchopexy to the presacral fascia. Two months later she returned with a recurrent volvulus. At reoperation, the pouch was found to have become completely detached from the fascia. A new pexy was made by firmly anchoring the pouch with two rows of sutures to the presacral fascia as well as with sutures to the lateral pelvic walls. At follow-up after five months she was free of symptoms. Conclusion. This first report ever on reoperative surgery for volvulus of a pelvic pouch indicates that a single row pouchopexy might be insufficient for preventing retwisting. Several rows seem to be needed.
Homonymous Superior Quadrantanopia due to Erdheim-Chester Disease with Asymptomatic Pituitary Involvement
Authors: Roaa Ridha Amer, Sara Mohammed Qubaiban, Eman Abdulkarim Bakhsh
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Polyostotic sclerosing histiocytosis, also known as Erdheim-Chester disease (ECD), is a rare form of non-Langerhans histiocytosis. ECD has wide clinical spectrums which mainly affect skeletal, neurological, dermatological, retroperitoneal, cardiac, and pulmonary manifestations. Here we describe a case of ECD in a 45-year-old female who presented initially with bilateral knee pain and homonymous superior quadrantanopia progressed to ophthalmoplegia and complete visual loss of the left eye over a period of one year. Plain X-ray of both knees showed bilateral patchy sclerosis of the distal femur and upper parts of the tibiae. Initial brain magnetic resonance imaging (MRI) showed bilateral enhancing masses in the temporal lobes anterior to the temporal horns, thickening of the pituitary stalk, partially empty sella, and involvement of the left cavernous sinus one year later. Our case is a peculiar case of ECD initially presented with unilateral homonymous superior quadrantanopia due to involvement of the visual apparatus in the mesial temporal lobe which progressed to unilateral ophthalmoplegia and total visual loss secondary to involvement of the cavernous sinus. Thus, the diagnosis of ECD should be kept in mind in the presence of bilateral bone sclerotic lesions.
BAP1 hereditary cancer predisposition syndrome: a case report and review of literature
Authors: Sonja Klebe, Jack Driml, Masaki Nasu, Sandra Pastorino, Amirmasoud Zangiabadi, Douglas Henderson, Michele Carbone
Journal: Biomark Res (2015)
Keywords: bap1 hereditary cancer predisposition syndrome, melanoma, mesothelioma
MeSH terms: Case Reports

A 72-year-old woman was diagnosed with uveal melanoma, peritoneal mesothelioma and a primary biliary tract adenocarcinoma. She had a strong family history of mesothelioma as well as other malignancies including renal cell carcinoma. The recently described BAP1 hereditary cancer predisposition syndrome was suspected, but immunohistochemical labeling was not conclusive. Genetic testing confirmed a novel and unusual germline mutation in the ubiquitin hydrolase domain of the BAP1 gene (p.Tyr173Cys) and the patient was diagnosed with the BAP1 hereditary cancer predisposition syndrome. This case demonstrates the importance of clinically recognizing this rare syndrome and its manifestations, some which are still being characterized. It also highlights the importance of genetic testing in cases where there is a high clinical suspicion, even when screening tests, such as immunohistochemistry, in this case, are inconclusive. The diagnosis of a germline BAP1 mutation may have important implications for both the patient and their families with regards to further genetic testing and active surveillance programs. Further research is needed to fully understand the extent and clinical implications of this rare cancer syndrome.
Renal Oncocytoma and Retroperitoneal Ancient Schwannoma: A Benign Mimic of Metastatic Renal Cell Carcinoma
Authors: Tyler J Maiers, Daniel C Wang, Ali H Houjaij, Oussama M Darwish
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

Renal oncocytomas and retroperitoneal schwannomas are rare and typically benign tumors with characteristic histopathologic features. Ideal management of both renal oncocytoma and retroperitoneal schwannoma is surgical resection. We present a rare case of a 63-year-old man with multifocal renal oncocytoma and retroperitoneal ancient schwannoma which, preoperatively, masqueraded as metastatic renal cell carcinoma. Both tumors were successfully resected surgically. Immunochemistry and histopathology confirmed each diagnosis.
Therapeutic Management of Ocular Ischemia in Takayasu's Arteritis: A Case-Based Systematic Review
Authors: Yue Zeng, Jianan Duan, Ge Ge, Meixia Zhang
Journal: Front Immunol (2022)
Keywords: takayasu’s arteritis, carotid surgery, endovascular procedures, medical therapy, ocular ischemic syndrome, systematic review
MeSH terms: Eye Diseases / etiology, Eye Diseases / surgery, Takayasu Arteritis / complications, Takayasu Arteritis / surgery, Case Reports, Research Support, Non-U.S. Gov't, Systematic Review, Adult, Eye / blood supply, Female, Humans, Ischemia / etiology, Ischemia / surgery, Vascular Surgical Procedures

Background:
Takayasu's arteritis (TA) is a rare, chronic granulomatous large-vessel vasculitis that can lead to ocular ischemia. Ocular outcomes after therapeutic management in TA remain largely unknown. We herein conduct a case-based systematic review to address the current treatment options in this particular cohort.
Methods:
PubMed, Medline, and EMBASE databases were searched pertaining to ocular outcomes after systemic treatment in TA. Studies reporting ocular examinations before and after treatment in TA patients with ocular ischemia were included. Clinical characteristics, therapies, ocular outcomes, and complications were recorded.
Results:
A 29-year-old woman with newly diagnosed TA showed dramatic regression of Takayasu's retinopathy (TR) following balloon angioplasty. Optical coherence tomography angiography (OCTA) was used as a novel strategy for subsequent follow-up. A total of 117 eyes of 66 patients with a median age of 27 years were included for systematic review. TR was the most common ocular manifestation. Oral steroids were prescribed in nearly all patients (n = 65), followed by the use of methotrexate and antiplatelet therapy. Of the patients, 65.8% and 34.2% underwent open surgery and endovascular procedure, respectively. The median follow-up period was 12 weeks (interquartile range 8-33.5). Surgical therapy showed better ocular improvement (including visual and imaging responses) in both acute and chronic vision loss, along with fewer complications than medical therapy alone. In the surgical group, the visual prognosis was significantly better in patients with initial visual acuity better than 20/200 (p = 0.03) and those who underwent surgery before stage III TR (p = 0.01). Ocular outcomes were equivalent in the two surgical approaches.
Conclusion:
Clinicians should be familiar with ophthalmic manifestations of this potentially treatable complication in TA. Compared with medical therapy alone, surgical intervention might be a better choice for both acute and chronic vision loss. Surgery is best recommended before the onset of irreversible ischemia to the globe. A combined regimen (oral steroids, immunosuppressants, and antiplatelet drugs) might be effective for those with surgical contradictions or reluctance to an invasive procedure. Physicians should be aware of the importance of ocular examinations, including OCTA, during the diagnosis and follow-up in TA.
Case report: Novel NIPBL-BEND2 fusion gene identified in osteoblastoma-like phosphaturic mesenchymal tumor of the fibula
Authors: Tomohisa Sakai, Yusuke Okuno, Norihiro Murakami, Yoshie Shimoyama, Shiro Imagama, Yoshihiro Nishida
Journal: Front Oncol (2023)
Keywords: rna sequencing, bone tumor, fusion gene, phosphaturic mesenchymal tumor, tumor induced osteomalacia, whole exome sequencing
MeSH terms: Case Reports

Phosphaturic mesenchymal tumor (PMT) is a rare tumor that secretes fibroblast growth factor 23 (FGF23) and causes hypophosphatemia and tumor-induced osteomalacia (TIO). Fusion genes FN1-FGFR1 and FN1-FGF1 have been detected in some PMTs, but the pathogenesis of PMTs without these fusion genes remains unclear. Here, we report a 12-year-old boy with persistent muscle weakness and gait disturbance. Roentgenographic examination revealed a radiolucent lesion with endosteal scalloping in the left fibula, while his serum level of FGF23 was markedly increased. Combined with simple X-ray findings of other body parts, we suspected that TIO was caused by PMT, and resected the tumor. After resection, the serum level of FGF23 started to decrease immediately and normalized within 3 hours after resection, with this being earlier than normalization of the serum phosphorus level. In RNA sequencing, FN1-FGFR1 and FN1-FGF1 were not detected, but a novel NIPBL-BEND2 fusion gene was identified. When we forcedly expressed this fusion gene in HEK293T cells and MG63 cells, cell proliferation was enhanced in both cell lines. Furthermore, Gene set enrichment analysis of HEK293T cells showed significant upregulation of MYC-target genes. Our results suggest that this novel NIPBL-BEND2 fusion gene promotes cell proliferation possibly via the MYC pathway and might be one of the etiologies of PMTs other than FN1-FGFR1 or FN1-FGF1.
Plexiform unicystic ameloblastoma: a rare variant of ameloblastoma
Authors: Swapnil S Deore, Rishikesh C Dandekar, Aarti M Mahajan, Rahul Patil, Nilima Prakash
Journal: Case Rep Dent (2014)

The term plexiform unicystic ameloblastoma refers to a pattern of epithelial proliferation that has been described in cystic cavity. Because of unilocular presentation, it is commonly misdiagnosed as an odontogenic cyst. However, they may often behave clinically as biologically aggressive tumors. These tumors show high incidence of cortical perforation, tooth resorption and a high rate of recurrence after simple enucleation. This paper aims to provide an insight into this biologically distinct entity. A literature review on the topic has been added along with a case report highlighting the approach of diagnosis and management of such ameloblastomas.
Vaping and Commitment Flu-B Infection Is a Deadly Combination for Spontaneous Pneumomediastinum
Authors: Md Didar Ul Alam, Khandakar Hussain, Samsone Garedew, Muhammad Imtiaz
Journal: Case Rep Pulmonol (2021)
MeSH terms: Case Reports

Vaping or E-cigarettes were created to deliver nicotine-containing aerosol to users with a flavoring agent without agents such as tars, oxidant gases, and carbon monoxide smoke found in traditional tobacco cigarettes. The use of E-cigarettes is steadily increasing in the United States, especially among the young population. Electronic cigarettes seem capable of causing various injury patterns in the lungs, collectively called E-cigarettes or vaping-associated lung injury (EVALI). Spontaneous pneumomediastinum (SPM) is a rare finding in EVALI. Here, we report a case of spontaneous pneumomediastinum secondary to vaping in a young man with no past medical history except for daily vaping and a recent untreated influenza infection.
Inflammatory pseudotumour of the lung: a case report and literature review
Authors: R Morar, A Bhayat, G Hammond, H Bruinette, C Feldman
Journal: Case Rep Radiol (2012)

We describe a patient with inflammatory pseudotumour of the lung. He was a young man who presented with haemotysis and the chest X-ray and computerized tomography were indicative of a nonbenign lesion in the right upper lobe. Excision biopsy confirmed the diagnosis of inflammatory myofibroblastic pseudotumour of the lung. This is a rare inflammatory nonneoplastic condition commonly affecting children and young adults.
CT diagnosis and endovascular management of spontaneous rupture of uterine artery in pregnancy
Authors: Karthikeyan Damodharan
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Spontaneous rupture of the uterine artery during pregnancy is an extremely uncommon condition, which presents as an acute emergency, associated with high rates of maternal and foetal mortality. This condition is challenging to diagnose and treat, as it is an uncommon entity having an acute nature of presentation. They are usually managed by emergency laparotomy and the diagnosis is rarely made preoperatively. We describe a case with CT angiographic images clearly demonstrating the uterine artery pseudoaneurysm with associated extensive haemoperitoneum, which helped us confirm this rare diagnosis. We successfully treated the patient by an endovascular approach, which has not been reported previously.
Small-bowel diverticulosis:imaging findings and review of three cases
Authors: B De Peuter, I Box, R Vanheste, S Dymarkowski
Journal: Gastroenterol Res Pract (2009)
MeSH terms: Case Reports

Complicated small-bowel diverticulosis is a rather uncommon cause of upper abdominal pain. It may lead to symptoms presenting with an acute onset or to chronic and nonspecific complaints. As the presentation is often similar to other pathologies (acute appendicitis, pancreatitis, or acute cholecystis) and in many cases diagnosis is made on basis of surgical findings, careful analysis of the imaging landmarks may be warranted to aid in the early stages of detection. In this report, we present clinical and morphological findings in three patients where small-bowel diverticulitis was surgically proven. The relevant literature is reviewed, and typical imaging properties are discussed.
The impact of approaching grief on the neonatal team: professional experience report
Authors: Cristiane Maria da Conceição Griffin, Jessica Macedo Pamponet, Viviane Bianca Bella, Gustavo Foronda, Soraya Gomiero Fonseca Azzi, Paula Alves Gonçalves
Journal: Einstein (Sao Paulo) (2022)
MeSH terms: Grief, Parents / psychology, Case Reports, Child, Family, Humans, Infant, Newborn, Intensive Care Units, Neonatal, Organizational Policy

This case report describes the holistic performance of the multidisciplinary team in a context of approaching the moment of death of a newborn, in a cross-cultural approach, and its impact on the working group. We report the clinical case of a neonate diagnosed as severe congenital heart disease, who evolved with early surgical intervention and died on the second day of life. Considering the neonatal intensive care unit an area requiring performance of a specialized team that addresses, with a high level of complexity, in a broad way, the patient, and his family, the death of a child breaks the logic of the life cycle. The multiprofessional and family management of the newborn in question illustrates the opportunities that are still being improved in the care of mourning in the neonatal period. Demonstrating that the care process does not end at the time of death, and the period of mourning is still a challenge for the neonatal team. Even so, parents can be welcomed, with care provided in a private and secure manner, with their needs, and preserved individuality. We observe the need for professional qualification and support for mourning and the need for specific institutional policies, since the health organizations must be attentive and take care of those who care, be cared for with a different look at their emotions.
Vector autoregression: Useful in rare diseases?-Predicting organ response patterns in a rare case of secondary AA amyloidosis
Authors: Sandra M Ihne-Schubert, Malte Kircher, Rudolf A Werner, Constantin Lapa, Hermann Einsele, Andreas Geier, Torben Schubert
Journal: PLoS One (2023)
MeSH terms: Amyloidosis / complications, Amyloidosis / diagnostic imaging, Amyloidosis / drug therapy, Positron Emission Tomography Computed Tomography, Case Reports, Aged, Cross-Sectional Studies, Humans, Rare Diseases / complications, Serum Amyloid A Protein, Serum Amyloid A Protein, AA amyloidosis

Background:
Statistical analyses of clinical data are a cornerstone in understanding pathomechanisms of disorders. In rare disorders, cross-sectional datasets of sufficient size are usually not available. Taking AA amyloidosis as an example of a life-threatening rare disorder resulting from of uncontrolled chronic inflammation, we propose techniques from time series analysis to predict organ response to treatment. The advantage of time-series analysis is that it solely relies on temporal variation and therefore allows analyzing organ response to treatment even when the cross-sectional dimension is small.
Methods:
The joint temporal interdependence of inflammatory activity and organ response was modelled multivariately using vector autoregression (VAR) based on a unique 4.5 year spanning data set of routine laboratory, imaging data (e.g., 18F-Florbetaben-PET/CT) and functional investigations of a 68-year-old patient with multi-organ involvement of AA amyloidosis due to ongoing inflammatory activity of a malignant paraganglioma in stable disease for >20 years and excellent response to tocilizumab).
Results:
VAR analysis showed that alterations in inflammatory activity forecasted alkaline phosphatase (AP). AP levels, but not inflammatory activity at the previous measurement time point predicted proteinuria.
Conclusion:
We demonstrate the feasibility and value of time series analysis for obtaining clinically reliable information when the rarity of a disease prevents conventional prognostic modelling approaches. We illustrate the comparative utility of blood, functional and imaging markers to monitor the development and regression of AA amyloidosis.
Macular ischemia after intravitreal amikacin on patient with intraocular foreign body
Authors: Arief Kartasasmita, Susi Mona, Erwin Iskandar, Iwan Sovani, Djonggi Panggabean
Journal: GMS Ophthalmol Cases (2017)
MeSH terms: Case Reports

Background: Although still used in third world countries, amikacin has a harmful effect to be used intravitreally. Purpose: To report macular ischemia after an intravitreal injection of amikacin Methods: A case report regarding a traumatized eye of a 26-year-old man that was injected intravitreally with amikacin due to intraocular foreign body endophthalmitis Results: Angiography and OCT show macular ischemia due to amikacin toxicity. Conclusion: The case reported here is to alert about the potential harmful effect of intravitreally injected amikacin despite its role as an accepted regimen for endohthalmitis cases.
Shoulder Agony: A Painful Glenoid Cyst
Authors: Badrul Akmal Hisham Md Yusoff, Muhamad Karbela Reza Ramlan, Ahmad Farihan Mohd Don, Muhammad Ilyaas Muhammed Ali Noor, Norlelawati Mohamad
Journal: Cureus (2023)
Keywords: cyst, ganglion, glenoid, pain, shoulder
MeSH terms: Case Reports

A ganglion cyst is a benign cystic lesion that can occur intraosseously. It is commonly a multiloculated lesion that consists of fibrous tissue with mucoid change and is usually located in the subchondral bone adjacent to the joint. Here, we present a rare case of a 33-year-old woman who presented to our orthopedic clinic with a five-year history of shoulder pain that gradually worsened. The pain was worst after any activity involving the right shoulder, and it also occurred at night and disturbed her sleep. Physical examination showed that the patient had limitations on the extreme range of movement. MRI revealed a subchondral bone cyst at the glenoid fossa. The ganglion cyst was subsequently curetted and packed with a bone graft from the iliac bone. Postoperatively, the pain resolved and the patient's range of movement improved. At the six-month follow-up, new bone formation over the void area caused by the cyst was observed on MRI.
COVID-19: An Emerging Culprit of Inflammatory Arthritis
Authors: Muhammad Shariq Mukarram, Muhammad Ishaq Ghauri, Sehrish Sethar, Nasir Afsar, Amir Riaz, Khizra Ishaq
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

Arthralgia is one of the most common symptoms that occur in patients with COVID-19. About 15% of patients present with arthralgia at some point. Although COVID-19 seems to attack the musculoskeletal system (muscles and joints) in its infective and postinfective stage causing inflammatory arthritis, not much is known about the rheumatic manifestations of this infection. In this case series of 5 patients, we discuss the occurrence of bilaterally symmetrical polyarthritis in patients, previously free from any rheumatic disease, after encountering COVID-19 infection. The musculoskeletal manifestations in these patients phenotypically resembled rheumatoid arthritis. These patients were treated successfully with low-dose glucocorticoids and disease-modifying antirheumatic drugs (DMARDs).