OpenMed/multicare-articles huggingface dataset:
Optical coherence tomography and fundus autofluorescence findings in presumed congenital simple retinal pigment epithelium hamartoma
Authors: Prabu Baskaran, Dhananjay Shukla, Parag Shah
Journal: GMS Ophthalmol Cases (2017)
Keywords: rpe tumors, autofluorescence, congenital simple rpe hamartoma, optical coherence tomography
MeSH terms: Case Reports

Aim: Presumed congenital simple retinal pigment epithelium hamartoma is a rare benign lesion of the macula that mimics congenital hypertrophy of the retinal pigment epithelium (RPE) and combined hamartoma of the retina and the RPE; newer imaging modalities can help in diagnosis. We report three patients with presumed congenital simple RPE hamartoma, and describe the enhanced-depth imaging optical coherence tomography (EDI-OCT) and fundus autofluorescence (FAF) findings. Methods: Two patients were asymptomatic; one had an intraocular foreign body in addition to the hamartoma. All had a similar jet black, elevated lesion in the macula, sparing the fovea. EDI-OCT showed a characteristic hyperreflective layer with complete optical shadowing of the deeper layers; FAF showed pronounced hypoautofluorescence of the lesion. Conclusion: Multimodal imaging with FAF and EDI-OCT can help to differentiate simple RPE hamartoma from similar RPE lesions, and may serve as a useful adjunct to clinical diagnosis of this rare tumor. We present the second largest series of presumed congenital simple RPE hamartoma, and - to the best of our knowledge - the first report of FAF findings of this tumor.
Unruptured ovarian ectopic pregnancy: Two case reports and literature review
Authors: Fang Ren, Gang Liu, Tifang Wang, Meijun Li, Zhiqiang Guo
Journal: Front Physiol (2022)
Keywords: case report, diagnosis, ovarian pregnancy, review, treatment
MeSH terms: Review

In clinical practice, ovarian pregnancy is extremely rare and is always found to be ruptured. A definitive diagnosis for ruptured ovarian pregnancy is difficult to obtain. We present two cases of unruptured ovarian pregnancies detected during laparoscopy and review existing literature to better understand the clinical characteristics of ectopic pregnancies in this rare site. Intrauterine devices, assisted reproductive technology, and intrauterine operations are all high-risk factors in ovarian pregnancy. Moreover, menopause, abdominal pain, and vaginal bleeding are clinical manifestations. Ovarian pregnancy can be diagnosed using serum hCG, transvaginal ultrasound, and magnetic resonance imaging. Laparoscopy is the treatment of choice for ovarian pregnancy. It is recommended that the intact gestational sac be excised and the ovarian function be protected to the greatest extent possible during the operation. More definitive diagnosis of ovarian pregnancy must be reported in order to gain a better understanding of ovarian pregnancy.
Intraosseous inflammatory myofibroblastic tumor in the mandible: a rare pathologic case report
Authors: Dale E Stringer, Chad N Allen, Katina Nguyen, Rahul Tandon
Journal: Case Rep Surg (2014)

Inflammatory myofibroblastic tumor (IMT) is an extremely rare lesion found in the maxillofacial region. Its frequency diminishes further when found in the bone. Although classification has varied throughout its history, the histologic features are often diagnostic, particularly with its strong association with anaplastic lymphoma kinase-1 (ALK-1) staining. The current mode of treatment for such a lesion is surgical removal with careful followup. In this rare case report, we describe the diagnosis and treatment in a 16-year-old male. Although this rare pathology can present as-and at times mimic-more serious pathologies, it is important for the attending surgeon to initially manage the pathology conservatively.
Giant retroperitoneal liposarcoma: a case report
Authors: Chavan Shahaji, Parasnis Amit, Punia Prashant, Tekade Sachin
Journal: Case Rep Oncol Med (2012)

Soft tissue sarcomas represent less than 1% of all human neoplasms. One-third of malignant tumors that arise in the retroperitoneum are sarcomas and liposarcoma is the most common retroperitoneal sarcoma. More often than not, patients report late to the hospital due to the slow progress and few late symptoms. Thus, the tumor is known to grow to enormous sizes. Here, we report a case of giant retroperitoneal liposarcoma weighing more than 7 kgs.
Mucinous adenocarcinoma of renal pelvis in a young male: a diagnostic challenge
Authors: Pooja Gupta, Deepti Agarwal, Sharma Shruti, Mithlesh Chandra
Journal: Ger Med Sci (2020)
Keywords: hydronephrosis, mucinous adenocarcinoma, urolithiasis, urothelial tumor
MeSH terms: Adenocarcinoma, Mucinous / pathology, Adenocarcinoma, Mucinous / physiopathology, Adenocarcinoma, Mucinous / surgery, Kidney Neoplasms / pathology, Kidney Neoplasms / physiopathology, Kidney Neoplasms / surgery, Kidney Pelvis / diagnostic imaging, Kidney Pelvis / pathology, Nephrectomy / methods, Ureter / diagnostic imaging, Ureter / pathology, Case Reports, Adult, Carcinoma in Situ / pathology, Carcinoma in Situ / surgery, Flank Pain / diagnosis, Flank Pain / etiology, Humans, Hydronephrosis / diagnosis, Hydronephrosis / etiology, Male, Tomography, X-Ray Computed / methods, Treatment Outcome, Ultrasonography / methods, Ureteral Neoplasms / pathology, Ureteral Neoplasms / surgery

Primary mucinous adenocarcinoma of the renal pelvis is an extremely rare tumor with only a handful of cases reported to date. Clinical and radiological features are not specific, and hence, histopathological examination holds the key for definitive diagnosis. This tumor has mainly been described in the elderly population, with less than five cases reported in individuals aged <35 years. Here, we report a case of primary mucinous adenocarcinoma of the renal pelvis in a young male. A 31-year-old male presented with a history of right-sided flank pain for the past year. On examination, he had right-sided costovertebral tenderness. Computed tomography (CT) scan revealed the presence of a hyperdense mass lesion in the right renal pelvis with severe hydronephrosis and cortical thinning. Because of the non-functioning status, right nephrectomy was performed. To our surprise, histopathology showed the presence of mucinous adenocarcinoma of the renal pelvis with carcinoma in situ of the ureter. This case describes a rare presentation of primary mucinous adenocarcinoma of the renal pelvis, and highlights the importance of histopathological examination in reaching the correct diagnosis.
Primary Mature Cystic Teratoma Compressing the Prostate in a 28-Year-Old Male: A Case Report and Literature Review
Authors: Khalil Chalhoub, Rawad Abou Zahr, Elias Mansour, Mona Aoun, Michel Jabbour
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

Primary mature retroperitoneal teratomas are rare tumors most commonly occurring in adult females. These tumors are usually asymptomatic since they have no attachments to specific organs. We present a rare case of a 28-year-old male with 2-month history of lower urinary tract symptoms, who was found to have a primary mature cystic teratoma abutting the prostate.
Basiliximab for the therapy of acute T cell-mediated rejection in kidney transplant recipient with BK virus infection: A case report
Authors: Tingting Chen, Xiaoyu Li, Jina Wang, Xuanchuan Wang, Tongyu Zhu, Ruiming Rong, Cheng Yang
Journal: Front Immunol (2022)
Keywords: bk virus, acute t cell–mediated rejection, basiliximab, kidney, transplantation
MeSH terms: BK Virus, Kidney Diseases / complications, Kidney Transplantation / adverse effects, Polyomavirus Infections / diagnosis, Polyomavirus Infections / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Aged, Basiliximab, Creatinine, Cyclosporine, Graft Rejection / drug therapy, Humans, Male, Mycophenolic Acid, Prednisolone, Prednisone, T-Lymphocytes, Cyclosporine, Basiliximab, Prednisolone, Creatinine, Mycophenolic Acid, Prednisone

A 66-year-old Chinese man underwent a deceased donor kidney transplantation. Induction-immunosuppressive protocol consisted of basiliximab (BAS) and methyl prednisolone (MP), followed by maintenance immunosuppression with cyclosporin (CsA), mycophenolate mofetil (MMF), and prednisone (PED). The patient's post-transplantation course was almost uneventful, and the graft was functioning well [serum creatinine (Scr) 2.15 mg/dL]. The MMF and CsA doses were decreased 1-month post-operative as the BK virus activation was serologically positive. His Scr was elevated to 2.45 mg/dL 45 days after the transplant. A graft biopsy showed BKV nephropathy (BKVN) and acute T cell-mediated rejection (TCMR) Banff grade IIA (I2, t2, ptc2, v1, c4d1, g0, and SV40 positive). The conventional anti-rejection therapy could deteriorate his BKVN, therefore, we administered BAS to eliminate activated graft-infiltrating T cells and combined with low-dose steroid. He responded well to the therapy after two doses of BAS were given, and the kidney graft status has been stable (recent Scr 2.1 mg/dL).
Case report: A case of acquired von Willebrand syndrome as onset clinical presentation of systemic lupus erythematosus manifested as epistaxis and pulmonary hemorrhage
Authors: Songmi Wang, Qun Hu, Yaxian Chen, Xiufen Hu, Ning Tang, Ai Zhang, Aiguo Liu
Journal: Front Pediatr (2022)
Keywords: acquired von willebrand syndrome, epistaxis, pediatrics, pulmonary hemorrhage, systemic lupus erythematosus
MeSH terms: Case Reports

Background:
Acquired von Willebrand syndrome (AVWS) is a less common bleeding disorder, primarily manifested as mild to moderate mucocutaneous bleeding and laboratory tests are similar to hereditary von Willebrand disease (VWD). AVWS is secondary to other diseases, and systemic lupus erythematosus (SLE) is a relatively rare cause.
Case presentation:
We report a case of AVWS as onset clinical presentation of SLE manifested as epistaxis and pulmonary hemorrhage. A 13-year-old male child presented to the hospital with a six-month history of recurrent epistaxis and a one-month history of anemia. Routine blood tests demonstrated severe normocytic anemia and normal platelet count. Von Willebrand test revealed a significantly lower level. High-resolution chest computed tomography (CT) showed patchy ground glass opacities consistent with hemorrhagic changes. After ruling out the family history, the patient was diagnosed with AVWS. Additional tests confirmed positive antinuclear and anti-Sm antibodies. The underlying SLE was diagnosed and treated with methylprednisolone with disease recovery.
Conclusion:
We recommend screening for bleeding disorders in patients with recurrent epistaxis. AVWS should be considered when laboratory findings suggest hereditary von Willebrand disease without a personal or familial history of bleeding. In addition, the underlying disease should be explored.
Unsuspected Malignancy During Percutaneous Nephrolithotomy: The Snake in the Grass
Authors: Charlotte Q Wu, Justin T Matulay, Mantu Gupta, Piruz Motamedinia
Journal: J Endourol Case Rep (2016)
Keywords: ut-scc, nephrolithiasis, squamous cell carcinoma
MeSH terms: Case Reports

Squamous cell carcinoma of the upper tract (SCC-UT) is a rare neoplasm that disproportionately affects patients with longstanding nephrolithiasis. Diagnosis is challenging and typically comes at late stages; as such, the prognosis is poor. The absence of a reliable diagnostic predictor for SCC highlights the need to keep the diagnosis in mind for at-risk patient populations. In this study, we describe a small case series of rapidly progressive SCC-UT incidentally discovered during percutaneous nephrolithotomy.
Self-inflicted male bladder foreign body: its endoscopic removal using a rigid cystoscope and a suprapubic forceps
Authors: Mohammad Kazem Moslemi, Mohamad Sorani
Journal: Case Rep Urol (2013)

Introduction. Herein we present an interesting technique for the removal of bladder foreign body (BFB) in which a combination of endoscopic and suprapubic cystostomy was used. Case Presentation. The patient was a case of illicit drug abuser who self-introduced an electrical wire into his bladder. After its failed cystoscopic removal, the foreign body was removed suprapubically without open bladder surgery. Discussions. Bladder foreign bodies are not uncommon. Based on the literature review, mainly open surgeries were used for their treatment. Using of our less invasive technique is a good way for escaping from open cystostomy. Conclusion. Endoscopic removal of the bladder foreign bodies is possible without any need for open bladder surgery.
Renal cell carcinoma metastatic to thyroid gland, presenting like anaplastic carcinoma of thyroid
Authors: Khalid Riaz, Mutahir A Tunio, Mushabbab Alasiri, Asim Ali Elbagir Mohammad, Muhammad Mohsin Fareed
Journal: Case Rep Urol (2013)

Background. Renal cell carcinoma (RCC) has unpredictable and diverse behavior. The classic triad of hematuria, loin pain, and abdominal mass is uncommon. At time of diagnosis, 25%-30% of patients are found to have metastases. Bones, lungs, liver, and brain are the frequent sites of metastases. RCC with metastasis to the head and neck region and thyroid gland is the rarest manifestation and anaplastic carcinoma behaving metastatic thyroid mass is an extremely rare presentation of RCC. Case Presentation. A 56-year-old Saudi man with past history of right radical nephrectomy 5 years back presented with 3 months history of rapid increasing neck mass with dysphagia, presenting like anaplastic thyroid carcinoma. Tru-cut biopsy turned out to be metastatic renal cell carcinoma. Patient was treated with radiation therapy 30 Gy in 10 fractions to mass. Patient died 4 months after the discovery of anaplastic thyroid looking metastasis. Conclusion. Rapidly progressing thyroid metastases secondary to RCC are rare and found often unresectable which are not amenable to surgery. Palliative radiotherapy can be considered for such patients.
High-Dose Rate Salvage Interstitial Brachytherapy: A Case-Based Guide to the Treatment of Therapeutically Challenging Recurrent Vulvar Cancer
Authors: Kelly Eileen Hughes, Christopher M McLaughlin, Emma C Fields
Journal: Front Oncol (2017)
Keywords: brachytherapy, high-dose rate brachytherapy, recurrent vulvar cancer, salvage interstitial brachytherapy, vulvar cancer
MeSH terms: Case Reports

Vulvar cancer is a rare gynecological malignancy with incidence rates steadily increasing over the past 10 years. Despite aggressive treatment, recurrent disease is common. Vulvar cancer recurrence poses a significant therapeutic challenge as most patients have been previously treated with surgery and/or radiation limiting the options for additional treatment. There are no consensus guidelines for the treatment of recurrent disease. Current literature supports the use of salvage interstitial brachytherapy. However, the total sample size is small. The goal of this case report is to review the current literature and to provide a guide for the use of salvage interstitial brachytherapy for recurrent disease by describing, in detail, the techniques used to treat two patients with unique cases of vulvar cancer recurrences in women with advanced disease and multiple medical comorbidities.
Aerated Lobar Collapse
Authors: Laura Haddad, Hanna Salame, Denis Tack
Journal: J Belg Soc Radiol (2023)
Keywords: air trapping, atelectasis, bronchial obstruction, hyperinflation, lobar collapse
MeSH terms: Case Reports

Teaching Point: Air trapping is a useful sign for early detection of worsening lobar collapse in the follow-up of obstructive atelectasis.
Cutaneous Disease as Sole Clinical Manifestation of Protothecosis in a Boxer Dog
Authors: Emmanouil I Papadogiannakis, Emmanouil N Velonakis, Gregory K Spanakos, Alexander F Koutinas
Journal: Case Rep Vet Med (2016)
MeSH terms: Case Reports

Prototheca wickerhamii is ubiquitous, saprophytic achlorophyllous algae that cause opportunistic infections in the dog and cat and disseminated disease usually in immunocompromised animals. In this report an uncommon case of canine cutaneous protothecosis is presented. A 6-year-old female boxer was brought in with skin lesions that consisted of nodules and generalized footpad hyperkeratosis, depigmentation, and erosion. Cytology and histopathology showed pyogranulomatous inflammation along with organisms containing round sporangia with spherical sporangiospores. PCR and sequencing identified the causal organism as Prototheca wickerhamii. Therapy applied in this patient with either fluconazole alone or combination of amphotericin B and itraconazole proved effective only for footpad lesions but not for skin nodules. Systemic therapy seems to be ineffective for skin nodules, at least in chronic cases of canine cutaneous protothecosis. Although canine protothecosis usually presents with the disseminated form, cutaneous disease as sole clinical manifestation of the infection may also be witnessed.
Metastatic squamous cell carcinoma of the skin with clinical response to lapatinib
Authors: John D Strickley, Aaron C Spalding, M Tye Haeberle, Timothy Brown, Don A Stevens, Jae Jung
Journal: Exp Hematol Oncol (2018)
Keywords: erbb3, lapatinib, metastatic cutaneous squamous cell carcinoma, next generation sequencing
MeSH terms: Case Reports

Background:
Lapatinib is a tyrosine kinase inhibitor that blocks the HER2 receptor and is typically used in the setting of metastatic breast cancer. Both ERBB2 (HER2) and ERBB3 (HER3) belong to the same family of receptor tyrosine kinases. Dimerization of these receptors leads to activation of cell proliferation and survival pathways, granting oncogenic potential to dysregulated ERBB/HER receptors. Next generation sequencing (NGS) of tumors has ushered in a new era of personalized oncology therapy and has the ability to detect mutations in ERBB receptors.
Case presentation:
We present a patient with metastatic cutaneous squamous cell carcinoma who failed surgery, radiation, and anti-PD1 therapy, but showed clinical response to a drug targeting an ERBB3 mutation identified with NGS. Following initiation of the drug lapatinib, this patient exhibited dramatic tumor regression in the skin, soft tissue, bone and nerves.
Conclusions:
Cutaneous squamous cell carcinoma is the 2nd most common skin cancer in humans and future investigation of ERBB2 targeted therapies may provide an effective treatment strategy for patients with mutations in the ERBB2/3 pathway.
Extramedullary plasmacytoma of the tonsil
Authors: Kevin C Huoh, Annemieke Van Zante, David W Eisele
Journal: Case Rep Otolaryngol (2011)
MeSH terms: Case Reports

Plasma cell tumors are a diverse group of neoplasms characterized by monoclonal proliferation of plasma cells. Extramedullary plasmacytoma (EMP) is a rare form of localized plasma cell tumor that arises most often in the head and neck region. We present an unusual case of EMP of the palatine tonsil from a tertiary care university hospital. We discuss the histopathologic and radiologic evaluation as well as treatment of EMP.
Case Report: About a Case of Hyperammonemia Syndrome Following Lung Transplantation: Could Metagenomic Next-Generation Sequencing Improve the Clinical Management?
Authors: Charlotte Michel, Michela Raimo, Vladimir Lazarevic, Nadia Gaïa, Nina Leduc, Christiane Knoop, Marie Hallin, Olivier Vandenberg, Jacques Schrenzel, David Grimaldi, Maya Hites
Journal: Front Med (Lausanne) (2021)
Keywords: hyperammonemia, lung trasnplantation, metagenomics, mollicutes, next-generation sequencing
MeSH terms: Case Reports

Background: Mycoplasma hominis and Ureaplasma spp. are responsible for opportunistic infections in transplant patients, sometimes causing a life-threatening hyperammonemia syndrome. Both pathogens are not identified with standard microbiology techniques, resulting in missed or delayed diagnosis. We present a clinical case that illustrates the added value that next-generation sequencing (NGS) may offer in the diagnosis of respiratory infections in immune-compromised patients. Results: A 55 years-old man with idiopathic pulmonary fibrosis underwent double lung transplantation. He received antibiotic prophylaxis with piperacillin-tazobactam and azythromycin. At day 4 post-transplantation (PTx), the patient presented an acute respiratory distress. A broncho-alveolar lavage (BAL) was performed. At day 5 PTx, the patient presented a status epilepticus due to diffuse cerebral oedema. Serum ammonia concentration was 661 μg/dL. BAL bacterial culture was negative. Because of the clinical presentation, special cultures were performed and identified 100.000 CFU/mL of M. hominis and Ureaplasma spp. and specific PCRs were positive for M. hominis and Ureaplasma parvum. Antibiotic therapy was shifted to therapeutic dose of azithromycin and doxycycline; within 48 h ammonia serum concentrations returned to normal but the coma persisted several weeks, followed by a persistent frontal lobe syndrome. A follow-up BAL was performed on day 11 Ptx. The Mycoplasma/Ureaplasma culture was negative, yet the specific PCRs remained positive. Bacterial culture found 100 CFU/mL of Staphylococcus aureus and viral culture was positive for Herpes Simplex Virus-1. These results were confirmed by metagenomic next-generation sequencing (mNGS). In the bacterial fraction, the majority of reads belonged to Corynebacterium propinquum (34.7%), S. aureus (24.1%) and Staphylococcus epidermidis (17.1%). Reads assigned to M. hominis, Ureaplasma urealyticum and parvum represented 0.71, 0.13, and 0.04% of the bacterial fraction and corresponded to 6.9 × 103, 9.7 × 102, and 3.7 × 102 genome equivalents per mL of BAL fluid, respectively. These results are in favor of a cure of the atypical infection. Conclusions: mNGS offered added diagnostic and quantitative values compared to PCR tests, which can remain positive after resolved infections. The initiation of appropriate antibiotic therapy would have occurred earlier on, possibly resulting in a better clinical outcome if mNGS had been performed in a routine fashion.
External jugular vein aneurysm presenting as a cervical mass
Authors: Eleni E Drakonaki, Emmanouil K Symvoulakis, Anthoula Fachouridi, Dimitrios Kounalakis, Emmanouil Tsafantakis
Journal: Int J Otolaryngol (2011)
MeSH terms: Case Reports

Venous aneurysms are rare causes of neck mass. Among neck veins, aneurysms of the external jugular vein are extremely uncommon. We present a case of a woman with a history of prior internal jugular vein catheterization who presented at a rural primary health care unit with a nontender progressively enlarging swelling in the right supraclavicular region. B-mode and Doppler ultrasound examination revealed a saccular dilatation of the external jugular vein, suggesting a posttraumatic venous aneurysm. Saccular aneurysms of the external jugular vein are uncommon and only rarely lead to serious complications. Access to ultrasound examination can allow early detection of this entity.
Pancolitis with ischemic injury as a complication of immunosuppressive treatment in a patient with autoimmune hepatitis: a case report
Authors: A Dalbeni, E Capoferro, L Bernardoni, P Capelli, A Caliò, A Gabbrielli, F Capra
Journal: Case Rep Gastrointest Med (2012)

Ischemic colitis is a serious drug-induced adverse event. There are only few cases of immunosuppression-associated ischemic colitis described in the literature, but none with a pancolitis-like manifestation. We report the case of a 72-year-old female patient who developed a pancolitis with ischemic injury on immunosuppressive treatment with steroids and azathioprine for autoimmune hepatitis. The patient presented with massive rectal bleeding. Colonoscopy confirmed the diagnosis of pancolitis. The results of histological examination indicated drug-induced ischemic colitis involving the entire colon. This is the first case of ischemic pancolitis mimicking an inflammatory bowel disease (IBD) in a patient with immunosuppressive therapy.