OpenMed/multicare-articles huggingface dataset:
Case report of hepatic pseudocyst: A rare manifestation of liver metastasis from an anal squamous cell carcinoma
Authors: Tomoaki Bekki, Yuji Takakura, Masatoshi Kochi, Kei Kushitani, Keiichi Mori, Koji Arihiro, Yoshifumi Teraoka, Hiroyuki Egi, Hideki Ohdan
Journal: Int J Surg Case Rep (2019)
Keywords: anal cancer, liver metastasis, pseudocyst, squamous cell carcinoma

Introduction:
Liver metastasis of an anal squamous cell carcinoma (SCC) with a pseudocyst is uncommon. There are many diseases which form hepatic cystic lesions and sometimes it is difficult to arrive at an accurate diagnosis.
Presentation of case:
A 69-year-old woman visited our hospital with complaints of bloody stool and difficult defecation. A palpable mass in the anal canal was found on digital examination. The laboratory tests revealed anemia and raised levels of SCC antigen. On endoscopy a type 2 tumor was identified in the anal canal and biopsy revealed SCC. The patient was diagnosed with advanced anal SCC (cT2N1aM0, cStage IIIA) as a result of the examination and underwent chemoradiotherapy (CRT); unfortunately the tumor persisted after CRT. A salvage abdominoperineal resection with D2 and left lateral lymph node dissection was conducted. Histopathologically, the tumor was diagnosed as poorly differentiated SCC. She was readmitted for fever 3 weeks after surgery, and the abdominal CT showed multiple low density areas with enhancement at the edge of the liver, suggesting abscess or metastasis. The metastatic SCC was revealed by cytology of liver drainage and liver biopsy.
Discussion:
Anal cancers are sometimes encountered however; a pseudo cystic presentation of a liver metastasis is very rare which makes it difficult to distinguish from other diseases.
Conclusion:
We present a case of SCC in the anal canal with liver metastasis presenting as a hepatic pseudocyst.
Myolipoma of mesentery: a case report
Authors: Hyun Sung Kim, Suk Kim, Kyungbin Kim, Kyung Un Choi, Joo Youn Kim
Journal: Case Rep Pathol (2013)

Myolipomas are very rare benign lipomatous soft tissue tumors which are usually located in retroperitoneum, abdominal and pelvic cavity, and the abdominal wall. They can be diagnosed histologically by the presence of irregularly admixed mature adipose tissue and smooth muscle fibers. The correct diagnosis of myolipoma is important, because it should be considered in the differential diagnosis of fat-containing lesions of the soft tissue and should follow a benign clinical course despite its frequently large size and deep location. We report here a case of myolipoma arising in the mesentery of the jejunum.
Spontaneous Osteonecrosis of the Tarsal Navicular: A Report of Two Cases
Authors: Yukie Kitaura, Akinobu Nishimura, Shigeto Nakazora, Aki Fukuda, Yoshiyuki Senga, Ko Kato, Akihiro Sudo
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Spontaneous osteonecrosis of the tarsal navicular, called the Mueller-Weiss syndrome, is an uncommon disease. Patients who are resistant to conservative treatment require operative treatment. However, there is no established operative treatment. Two cases of spontaneous osteonecrosis of the tarsal navicular with double (talonavicular and naviculocuneiform joints) arthrodeses with different locking plates are presented. Removal of necrotic areas from the tarsal navicular and replacement with autologous bone graft procured from the iliac crest followed by arthrodesis using a locking plate were performed. Case 1 was fixed with an LCP Distal Radius Plate (SYNTHES) and 6 2.4 mm locking screws. Case 2 was fixed with a Cervical Spine Locking Plate Variable Angle (SYNTHES) and 4 4.0 mm locking screws. Case 2 achieved solid fusion of the talonavicular-cuneiform joints, but case 1 resulted in nonunion of the talonavicular joint. This difference in internal fixation strength might have caused the difference in the results. Performance of double arthrodeses from the medial aspect using a locking plate is a reasonable operative procedure to treat spontaneous osteonecrosis of the tarsal navicular. Strong primary fixation using a thick plate with large-thread screws was important to obtain joint fusions.
Delineation of molecular characteristics in pediatric PFA ependymoma involving rare osseous and pulmonary metastases: A case report and literature review
Authors: Mading Zhou, Leiming Wang, Peng Sun, Yutong Liu, Ge Chen, Gao Zeng
Journal: Front Oncol (2022)
Keywords: cdk12, pfa, chemotherapy, extraneural metastases, pediatric ependymoma
MeSH terms: Case Reports

Ependymoma is the third most common pediatric primary brain tumor, with its most aggressive subtype being posterior fossa group A (PFA). Extraneural metastasis of pediatric PFA ependymoma is rare. Herein, we present a case of a 9-year-old girl with PFA ependymoma characterized by a lack of trimethylation of histone H3 at lysine 27 and elevated chromosome X open reading frame 67 expression. Despite multiple surgeries and radiotherapies, the patient had a rapid recurrence and developed osseous and pulmonary metastases, which may be attributed to the homozygous deletion of cyclin-dependent kinase (CDK) inhibitor 2A/B and CDK12 mutation. Importantly, the CDK12 mutation observed in the patient may be indicative of the need for further work-up to consider chemotherapy rather than administering poly (adenosine diphosphate-ribose) polymerase inhibitors. Taken together, this is the first report of pediatric PFA ependymoma with extraneural metastases, wherein we clarified the diagnostic procedures of this newly identified PFA ependymoma and provided new cues to study the invasiveness of this disease and treatment selection for such patients.
Spontaneous pleural aspergillosis in an immunocompetent young adult treated with minimally invasive surgery
Authors: Hiromi Ichikawa, Ryoichiro Doi, Keitaro Matsumoto, Koichi Tomoshige, Masataka Hirabaru, Ryusuke Machino, Tomohiro Obata, Satoshi Mizoguchi, Junji Irie, Tomoshi Tsuchiya, Takeshi Nagayasu
Journal: Respir Med Case Rep (2023)
Keywords: aspergillus empyema, cavernostomy, decortication, minimally invasive surgery, pleural aspergillosis, spontaneous pneumothorax
MeSH terms: Case Reports

Spontaneous cases of pleural aspergillosis in healthy adults are rare, and the optimal therapeutic approach has not been established. Here we report a rare case of spontaneous pleural aspergillosis in an otherwise healthy young adult. Two-stage surgery with decortication and cavernostomy, followed by systemic antifungal therapy, finally resulted in a successful resolution of his empyema without any serious complications. In young patients with good pulmonary compliance, less invasive procedures, such as thoracoscopic decortication and/or carvernotomy, is a potential treatment option.
Hemangiopericytoma of the breast: a case report and a review of the literature
Authors: Georgios Koukourakis, Evagelos Filopoulos, Kasiani Kapatou, Georgios Zacharias
Journal: Case Rep Oncol Med (2015)

Introduction. Sarcomas of the breast are rare and hemangiopericytoma (HPC) of the breast is even rarer. Case Report. We report a case of a 43-year-old woman who presented with a 4 cm mass in her right breast. Her family history was positive for breast cancer. A fine needle aspiration indicated a malignant vascular tumor. An excision biopsy and frozen section analysis confirmed the presence of an encapsulated mesenchymal tumor. Its morphology and immunohistochemical marker profile were characteristic for a malignant hemangiopericytoma. Thus, she underwent a tumor excision without an axilla sampling. Approximately one year after the surgery the patient is well without local recurrence or metastasis disease to be observed. We also reviewed the literature and discuss the treatment options, characteristics, and immunophenotype of HPC. Conclusions. The accurate diagnosis of HPC depends on the appropriate histological and immunohistochemical examination. Surgical resection is the treatment of choice and due to scarcity of cases and unpredictable biological behavior of these tumors long term follow-up may be warranted.
Molecular and clinical characteristics of ATP1A3-related diseases
Authors: Yinchao Li, Xianyue Liu, Chengzhe Wang, Zhengwei Su, Ke Zhao, Man Yang, Shuda Chen, Liemin Zhou
Journal: Front Neurol (2022)
Keywords: atp1a3, alternating hemiplegia of childhood, flunarizine, phenotype spectrum, rapid-onset dystonia-parkinsonism

Objective:
With detailed studies of ATP1A3-related diseases, the phenotypic spectrum of ATP1A3 has greatly expanded. This study aimed to potentially identify the mechanisms by which ATP1A3 caused neurological dysfunction by analyzing the clinical features and phenotypes of ATP1A3-related diseases, and exploring the distribution patterns of mutations in the subregions of the ATP1A3 protein, thus providing new and effective therapeutic approaches.
Methods:
Databases of PubMed, Online Mendelian Inheritance in Man, and Human Gene Mutation Database, Wanfang Data, and Embase were searched for case reports of ATP1A3-related diseases. Following case screening, we collected clinical information and genetic testing results of patients, and analyzed the disease characteristics on the clinical phenotype spectrum associated with mutations, genetic characteristics of mutations, and effects of drug therapy.
Results:
We collected 902 clinical cases related to ATP1A3 gene. From the results of previous studies, we further clarified the clinical characteristics of ATP1A3-related diseases, such as alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism; cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome, and relapsing encephalopathy with cerebellar ataxia, frequency of mutations in different phenotypes and their distribution in gene and protein structures, and differences in mutations in different clinical phenotypes. Regarding the efficacy of drug treatment, 80 of the 124 patients with AHC were treated with flunarizine, with an effectiveness rate of ~64.5%.
Conclusions:
Nervous system dysfunction due to mutations of ATP1A3 gene was characterized by a group of genotypic-phenotypic interrelated disease pedigrees with multiple clinical manifestations. The presented results might help guide the diagnosis and treatment of ATP1A3-related diseases and provided new ideas for further exploring the mechanisms of nervous system diseases due to ATP1A3 mutations.
Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin
Authors: Roberta La Starza, Tiziana Pierini, Lorenza Pastorino, Elisa Albi, Caterina Matteucci, Barbara Crescenzi, Paolo Sportoletti, Piero Covarelli, Franca Falzetti, Giovanni Roti, Stefano Ascani, Cristina Mecucci
Journal: Mol Cytogenet (2018)
Keywords: cll, collision tumor, melanoma, molecular cytogenetics, mutational analysis
MeSH terms: Case Reports

Background:
Collision tumors are rare entities that consist of two histologically distinct tumor types arising in the same anatomic site. An association between chronic lymphocytic leukemia (CLL) and malignant melanoma (MM) has been already described. Up to now, they have been documented only at positive regional lymph nodes while we focused on collision tumor in a skin lesion.
Case presentation:
We characterized the genomic profile of a skin CLL/MM collision tumor in a patient with a 9-years story of CLL. Typical high-grade genomic biomarkers featured the CLL: the immunoglobulin heavy variable genes were unmutated; a clonal del(11q), involving ATM and BIRC3, was present in the peripheral blood (PB) and skin lesion, while a subclonal large del(13q)/D13S319-RB1 was detected only in the PB. Interestingly, the del(13q) clone, increased from 10% to 46% from diagnosis to relapse. NOTCH1, SF3B1, and TP53 were wild type. The MM lesion carried a BRAFV600E and a TERT promoter mutation.As the family story was consistent with a genetic predisposition to cancer, we performed mutational analysis of genes involved in familial melanoma and CLL, and of BRCA1 and BRCA2. No germinal mutation known to predispose to CLL, MM, or breast cancer was found. Interestingly, conventional cytogenetic detected a constitutional t(12;17)(p13;p13).
Conclusions:
Our data are consistent with distinct genetic landscape of the two tumors which were characterized by specific disease-related abnormalities. CLL cells carried poor prognostic imbalances, i.e. large deletions of the long arm of chromosomes 11 and 13, while in MM cells two functionally linked mutations, i.e. BRAFV600E and a TERT promoter occurred. Although, known germline variations predisposing to MM and/or CLL were ruled out, genetic counseling suggested the proband family was at high risk for MM.
Bilateral Scapular Fractures Occurring as a Result of a First-Time Seizure
Authors: David P Betten, Ian S Batson, Leah N Babiarz, Kristen N Owen
Journal: Case Rep Emerg Med (2022)
MeSH terms: Case Reports

The violent nature of generalized tonic-clonic seizures puts individuals at risk of a large number of potential injuries. These can occur due both to the profound muscular contractions that accompany these episodes as well as falls and other traumatic events that occur due to the period of loss of consciousness that occurs during generalized seizures. While injuries such as soft tissue contusions, tongue biting, dental injuries, and facial lacerations resulting from falls from standing predominate, bony injuries are not uncommon. We present a case of bilateral scapular fractures that occurred in an otherwise healthy 32-year male who presented with shoulder and back pain and inability to perform any significant movement of his upper arms secondary to pain after experiencing an apparent first-time generalized tonic-clonic seizure. The presence of unilateral and bilateral scapular fractures, while uncommonly described, should be considered as an additional potential orthopedic injury that may occur secondary to a generalized tonic-clonic seizure. In the absence of observed significant forceful traumatic injury, this injury is unusual, and its presence noted in a patient experiencing sudden loss of consciousness should raise heightened concern of seizures as the potential etiology.
Sphenoid sinus metastasis as the presenting manifestation of a prostatic adenocarcinoma: case report and overview of the literature
Authors: I Puche-Sanz, F Vázquez-Alonso, J F Flores-Martín, H Almonte-Fernández, J M Cózar-Olmo
Journal: Case Rep Oncol Med (2012)

Although a metastatic presentation of an occult prostatic adenocarcinoma is not uncommon, the majority of these patients present with bone metastasis affecting the axial skeleton. Cranial metastases to the paranasal sinuses are extremely rare. A 56-year-old man presented with loss of vision and numbness of the right side of the face. Computed tomography (CT) scan and cranial magnetic resonance imaging (MRI) revealed a mass invading the sphenoid sinus. The patient underwent surgery to remove the lesion, and the histopathological examination suggested metastasis of an adenocarcinoma, with positive staining to prostatic specific antigen (PSA). However, serum PSA was 4 ng/mL, and the patient did not report any lower urinary tract symptoms or bone pain. Transrectal ultrasound-guided biopsy revealed prostatic adenocarcinomas with a Gleason score of 8 [4 + 4]. The subsequent treatment consisted of radiotherapy and androgen deprivation, followed by first- and second-line chemotherapy (docetaxel and cabazitaxel) when the disease progressed. The patient achieved a good response with the last cycle of cabazitaxel and after a 5-year followup is currently alive. Cranial metastases of prostate adenocarcinoma are rare, and there is currently no standard treatment for these patients. Whenever possible, surgery combined with radiotherapy and hormonotherapy is the recommended option.
Successful recovery of infective endocarditis-induced rapidly progressive glomerulonephritis by steroid therapy combined with antibiotics: a case report
Authors: Daisuke Koya, Kazuyuki Shibuya, Ryuichi Kikkawa, Masakazu Haneda
Journal: BMC Nephrol (2004)
MeSH terms: Adrenal Cortex Hormones / therapeutic use, Anti-Bacterial Agents / therapeutic use, Endocarditis, Bacterial / complications, Glomerulonephritis / etiology, Gram-Positive Bacterial Infections / complications, Penicillin G / therapeutic use, Propionibacterium acnes, Case Reports, Adult, Drug Therapy, Combination, Echocardiography, Endocarditis, Bacterial / diagnostic imaging, Endocarditis, Bacterial / drug therapy, Glomerulonephritis / drug therapy, Glomerulonephritis / metabolism, Glomerulonephritis / pathology, Gram-Positive Bacterial Infections / diagnostic imaging, Gram-Positive Bacterial Infections / drug therapy, Humans, Male, Recovery of Function, Tricuspid Valve / diagnostic imaging, Adrenal Cortex Hormones, Anti-Bacterial Agents, Penicillin G

Background:
The mortality rate among patients with infective endocarditis, especially associated with the presence of complications or coexisting conditions such as renal failure and the use of combined medical and surgical therapy remains still high. Prolonged parenteral administration of a bactericidal antimicrobial agent or combination of agents is usually recommended, however, the optimal therapy for infective endocarditis associated with renal injury is not adequately defined.
Case presentation:
Patient was a 24-years old man who presented to our hospital with fever, fatigue, and rapidly progressive glomerulonephritis. He had a history of ventricular septum defect (VSD). A renal biopsy specimen revealed crescentic glomerulonephritis and echocardiogram revealed VSD with vegetation on the tricuspid valve. Specimens of blood demonstrated Propionibacterium Acnes. The intensive antibiotic therapy with penicillin G was started without clinical improvement of renal function or resolution of fever over the next 7 days. After the short-term treatment of low dose of corticosteroid combined with continuous antibiotics, high fever and renal insufficiency were dramatically improved.
Conclusion:
Although renal function in our case worsened despite therapy with antibiotics, a short-term and low dose of corticosteroid therapy with antibiotics was able to recover renal function and the patient finally underwent tricuspid valve-plasty and VSD closure. We suggest that the patients with rapidly progressive glomerulonephritis associated with infective endocarditis might be treated with a short-term and low dose of corticosteroid successfully.
Traumatic dural sinus thrombosis causing persistent headache in a child
Authors: Bhavana Lakhkar, Bhushan Lakhkar, Brij Raj Singh, Amit Agrawal
Journal: J Emerg Trauma Shock (2010)
Keywords: head injury, lateral sinus, sigmoid sinus, sinus thrombosis
MeSH terms: Case Reports

Dural venous sinus thrombosis following a mild head injury is increasingly recognized. We report case of a 9-year-old male child presented with progressive headache and vomiting following a minor fall. A diagnosis of sinus venous thrombosis was suspected on nonenhancing computed tomography, and that was confirmed with magnetic resonance venography. The child was managed with intravenous fluids, anticoagulation (injection heparin followed by oral anticoagulants-tab coumarin), antiedema measures (mannitol), and antiepileptics (phenytoin) with good outcome.
Ulcerated Scrotal Hemangioma in an 18-Month-Old Male Patient: A Case Report and Review of the Literature
Authors: Ioannis Patoulias, Konstantinos Farmakis, Christos Kaselas, Dimitrios Patoulias
Journal: Case Rep Urol (2016)

Deep scrotal hemangiomas are rare. Less than 50 case reports have been published. After systematic research of the literature, we found less than 5 cases of ulcerated scrotal hemangioma. The aim of this case report is to illustrate the challenges of scrotal hemangiomas pose and their potential therapies based on the successful surgical treatment of an ulcerated scrotal hemangioma in an 18-month-old male patient.
A case report of disseminated Streptococcus pneumoniae infection complicated by infective endocarditis, septic arthritis and epidural abscess in an immunocompetent patient
Authors: Kimberley Rose Dean, Archana Koirala, Harsha Samarasekara
Journal: Access Microbiol (2023)
Keywords: bacteraemia, case study, infectious diseases, invasive pneumococcal disease, otitis media, pneumococcal, sepsis
MeSH terms: Case Reports

Streptococcus pneumoniae is a highly virulent, vaccine-preventable pathogen which can cause disease on a spectrum from benign to fatal. Apart from pneumonia, it commonly causes septicaemia and meningitis. This case report describes an unusual range of complications in a 53-year-old Caucasian female presenting to a regional hospital, without any risk known factors for severe disease (such as extremes of age, immunodeficiency or co-morbidities). Progressing from an episode of otitis media, her condition rapidly progressed to mastoid sinusitis, septic arthritis, infective endocarditis, epidural abscesses and multiple subcutaneous abscesses. Following quick identification of S. pneumoniae from a positive blood culture, the patient was treated with high-dose benzylpenicillin and ceftriaxone and aggressive source control by surgery, enabling a good clinical recovery.
The Highs and Lows of an Unknown Pheochromocytoma in an Elderly Patient
Authors: Christina N DiMaria, Lorena I Rasquin, Wikien A Hung Pinto
Journal: Case Rep Endocrinol (2019)
MeSH terms: Case Reports

Pheochromocytomas are rare catecholamine producing neuroendocrine tumors. The incidence of these tumors is estimated to affect 0.8 per 100,000 person-years and is most common in the fourth to fifth decade of life with equal prevalence in men and women. We describe a case of an 84-year-old male who presented with cycling episodes of severe hypertension and hypotension after an elective cardiac catheterization. Workup of the labile blood pressure revealed a large suprarenal mass and free serum metanephrines (MN) 104 nmol/L (reference range 0.0-0.49 nmol/L) and normetanephrines (NMN) of 24 nmol/L (reference range 0.0-0.89 nmol/L), confirming the diagnosis of a pheochromocytoma. The patient's labile blood pressure was a challenge to manage medically and improved only after aggressive hydration and an alpha-adrenergic antagonist. Of note, this is the second eldest patient known to be published to date with a pheochromocytoma.
First imported Plasmodium ovale malaria in Central America: case report of a Guatemalan soldier and a call to improve its accurate diagnosis
Authors: María Eugenia Castellanos, Sheilee Díaz, Emily Parsons, Leonard F Peruski, Fabiola Enríquez, Juan Luis Ramírez, Norma Padilla
Journal: Mil Med Res (2015)
Keywords: diagnosis, imported malaria, plasmodium ovale

The Mesoamerican Ministers of Health have set 2020 as the target for malaria elimination to be achieved in the region. Imported malaria cases are a potential threat to countries attempting elimination or working to prevent resurgence. We report the first imported Plasmodium ovale infection with molecular confirmation in Central America, which occurred in a Guatemalan soldier that had been deployed in Africa. The obstacles for its diagnosis using the standard microscopy technique and the need to improve its detection are discussed.