OpenMed/multicare-articles huggingface dataset:
Inflammatory Myofibroblastic Tumor With Rapid Recurrence and Distant Metastasis: Report of a Rare Case
Authors: Dipti Kalita, Ruchi Rastogi, Gunmala Bhatnagar, Kunjahari Medhi, Sanjay K Pandey
Journal: Cureus (2024)
Keywords: alk-inhibitor, brain metastasis, histomorphology of inflammatory myofibroblastic tumor, inflammatory myofibroblastic tumor (imt), recurrence
MeSH terms: Case Reports

Inflammatory myofibroblastic tumors (IMTs) are rare spindle cell tumors clinically, morphologically, and genetically heterogeneous, mimicking many other reactive and neoplastic lesions and creating great diagnostic problems. Although it is generally characterized by oncogene-derived proliferation of myofibroblasts in a background of polyclonal inflammatory cell infiltrates, morphological variations do occur requiring immunohistochemistry and molecular genetics to confirm the diagnosis. It encompasses a wide age range, and locations, mostly said to be of intermediate grade having a low risk of recurrence and metastasis. However, its biological behavior and course are variable and unpredictable. Here, we report a case of thoracic IMT in a 32-year-old adult female presenting with a history of fever, cough, and chest pain associated with neutrophilic leukocytosis. Radiological investigations revealed a large mass in the thoracic region with possibilities of hydatid cyst and neurogenic tumor. Initial core needle biopsy specimen and subsequent local resection specimen revealed the diagnosis of IMT on histopathology and immunohistochemistry, having conventional morphology with expression of Anaplastic lymphoma kinase (ALK) protein. The patient developed rapid local recurrence and was started with first-generation ALK inhibitor Crizotinib. After a brief period of response, she developed vertebral and brain metastasis within a short span of time and was switched to a third-generation ALK inhibitor, Lorlatinib. The patient is on regular follow-up, has stable disease, and maintains a good quality of life after two years of diagnosis.
Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review
Authors: Chiara Minotti, Ludovico Graziani, Ester Sallicandro, Maria Cristina Digilio, Roberto Falasca, Viola Alesi, Giuseppe Novelli, Maria Lisa Dentici, Sara Loddo, Antonio Novelli
Journal: Front Genet (2024)
Keywords: 6q21q221, cerebellar vermis hypoplasia, chromosomal microarray analysis, developmental delay, interstitial deletion
MeSH terms: Case Reports

Interstitial deletions involving 6q chromosomal region are rare. Less than 30 patients have been described to date, and fewer have been characterized by high-resolution techniques, such as chromosomal microarray. Deletions involving 6q21q22.1 region are associated with an extremely wide and heterogeneous clinical spectrum, thus genotype-phenotype correlation based on the size of the rearranged region and on the involved genes is complex, even among individuals with overlapping deletions. Here we describe the phenotypic and molecular characterization of a new 6q interstitial deletion in a girl with developmental delay, intellectual disability, cerebellar vermis hypoplasia, facial peculiar characteristics, ataxia and ocular abnormalities. Microarray analysis of the proposita revealed a 7.9 Mb interstitial de novo deletion at 6q21q22.1 chromosomal region, which spanned from nucleotides 108,337,770 to 116,279,453 (GRCh38/hg38). The present case, alongside with a systematic review of the literature, provides further evidence that could aid to the definition of the Smallest Region of Overlap and of the genomic traits that are associated with particular phenotypes, focusing on neurological findings and especially on cerebellar anomalies.
Case report: A suspected case of chronic pulmonary sparganosis characterized by migrating cavities and tunnel sign
Authors: Zhongfeng Niu, Lujiao Chen, Yanhua Zhang, Li Zhao
Journal: Front Med (Lausanne) (2024)
Keywords: case report, computed tomography, migrating cavities, pulmonary sparganosis, tunnel sign
MeSH terms: Case Reports

A 20-year-old male patient with a 15-month history of recurrent cough and hemoptysis presented at our hospital with suspected pulmonary sparganosis. Computed Tomography (CT) revealed migratory and variable lesions ranging from patchy shadows to nodular and cavernous foci. Additionally, the location and morphology of the cavities changed rapidly. The patient's peripheral blood eosinophil count remained within the normal range throughout the course of the infection, and antibiotics (moxifloxacin) alleviated the symptoms. At the early stage of admission, there was a slight increase in neutrophil and basophil counts. Initial treatment with a standard dose of praziquantel led to a significant improvement in symptoms, but the symptoms soon relapsed. However, doubling the dose 4 months later eventually cured the disease. The migratory nature of the CT lesion and the presence of tunnel signs were key to diagnosing a parasitic infection. The variability and rapid changes in the lesion further facilitated the differentiation of the disease, which rarely manifests as a granulomatous cavity.
Beyond the Usual Suspects: Primary Premaxilla Sarcoidosis
Authors: Pankhuri Mittal, Brijnandan Gupta, Subodh Kumar, Aakanksha Rawat, Anshi Singh
Journal: Iran J Otorhinolaryngol (2024)
Keywords: extra-pulmonary sarcoidosis, head and neck sarcoidosis, sarcoidosis
MeSH terms: Case Reports

Introduction:
Sarcoidosis is an idiopathic systemic granulomatous disorder that can affect multiple organs, including rare extrapulmonary sites like the premaxilla. This case report presents a rare occurrence of premaxillary sarcoidosis, a condition scarcely reported in medical literature.
Case report:
The patient, a 62-year-old male, presented with a progressively enlarging painless swelling on the right cheek over a three-year period. Despite multiple Fine Needle Aspiration Cytology (FNAC) examinations yielding no conclusive diagnosis, a contrast-enhanced computed tomographic (CT) scan revealed an ill-defined lesion in the premaxillary soft tissue. Biopsy and subsequent excision procedures confirmed the presence of non-caseating granulomas with asteroid bodies, indicative of sarcoidosis. With no systemic involvement and complete excision of the disease, further treatment was not necessary.
Conclusion:
This case highlights the challenges in diagnosing premaxillary (Extrapulmonary Sarcoidosis) sarcoidosis due to its rarity and resemblance to other dental and maxillofacial conditions and granulomatous lesions. Accurate diagnosis requires a high index of suspicion, multidisciplinary approach, involving clinical assessment, histopathological analysis, and imaging modalities. By deepening our understanding of these uncommon presentations, this report aims to enhance clinical awareness and contribute to improved patient outcomes.
Calcinosis circumscripta of the breasts: The deeper meaning
Authors: Tanusha Sewchuran, Joel M Kabeya
Journal: SA J Radiol (2023)
Keywords: hrct, benign breasts calcification, breast calcinosis, calcinosis circumscripta, mammography
MeSH terms: Case Reports

Calcinosis circumscripta involving the breasts usually hints at an underlying systemic cause, most commonly connective tissue disorders such as scleroderma or dermatomyositis. Localised scleroderma, also known as morphoea, is not usually associated with the systemic anomalies affecting the lungs and gastrointestinal system, but does manifest as calcified dermal and subdermal sclerotic plaques. Histological confirmation with skin biopsy is diagnostic.
Contribution:
Recognition of the atypical, bizarre, linear dystrophic calcifications on mammography should direct appropriate systemic investigations.
PANCREATODUODENECTOMY DUE TO LIPOMATOUS PSEUDOHYPERTROPHY OF THE PANCREAS
Authors: Orlando Jorge Martins Torres, Rodrigo Rodrigues Vasques, Cláudio Matias Barros Júnior, Galvani Ascar Sauaia Filho, Benedito Dario Murad Mouchrek, Marcelo Lima Rocha, Rennan Abud Pinheiro Santos, Milena Vasconcelos Falcão, José Maria Assunção Moraes Júnior
Journal: Arq Bras Cir Dig (2023)
MeSH terms: Pancreas, Pancreaticoduodenectomy, Case Reports, Abdominal Pain, Adipose Tissue, Adult, Humans, Male, Pancreaticojejunostomy, Young Adult

Background:
Lipomatous pseudohypertrophy of the pancreas, pancreatic lipomatosis, pancreatic steatosis, non-alcoholic fatty pancreatic disease, or fatty pancreas is an extremely rare disease, characterized by the organ enlargement and a localized or diffuse replacement of pancreatic acinar cells by mature adipose tissue, preserving the pancreatic ductal system and islets of Langerhans.
Aims:
To report a rare case of lipomatous pseudohypertrophy of the pancreas in a symptomatic patient and the surgical treatment employed.
Methods:
A 24-year-old male patient with weight loss (10 kilograms in 8 months), hyperglycemia, severe and recurrent acute abdominal pain, epigastric discomfort associated with nausea, vomiting, and jaundice for 40 days. Magnetic resonance imaging was performed, revealing an irregular lipomatous pseudohypertrophy of the pancreas, measuring 6.0 × 5.6 cm in the head, uncinate process, and part of the body of the pancreas. The pancreatic duct dilation was diffuse and irregular, associated with atrophy of the remnant parenchyma, particularly in the tail of the pancreas. The patient underwent pancreatoduodenectomy without total mesopancreas excision followed by pancreatojejunostomy.
Results:
The postoperative course was uneventful, the length of stay in the ICU was two days, and the patient was discharged on the seventh postoperative day.
Conclusions:
The disease treatment depends on the signs and symptoms at presentation and a pancreatoduodenectomy is indicated in patients with severe and recurrent abdominal pain.
Exploring the role of AI in classifying, analyzing, and generating case reports on assisted suicide cases: feasibility and ethical implications
Authors: Giovanni Spitale, Gerold Schneider, Federico Germani, Nikola Biller-Andorno
Journal: Front Artif Intell (2023)
Keywords: ai, artificial intelligence, assisted suicide, case classification, ethics committee, euthanasia, synthetic data

This paper presents a study on the use of AI models for the classification of case reports on assisted suicide procedures. The database of the five Dutch regional bioethics committees was scraped to collect the 72 case reports available in English. We trained several AI models for classification according to the categories defined by the Dutch Termination of Life on Request and Assisted Suicide (Review Procedures) Act. We also conducted a related project to fine-tune an OpenAI GPT-3.5-turbo large language model for generating new fictional but plausible cases. As AI is increasingly being used for judgement, it is possible to imagine an application in decision-making regarding assisted suicide. Here we explore two arising questions: feasibility and ethics, with the aim of contributing to a critical assessment of the potential role of AI in decision-making in highly sensitive areas.
Case report: 10 years follow-up of psychosis due to Fahr's disease complicated by a left temporal stroke
Authors: Marco De Pieri, Greta Poglia, Javier Bartolomei
Journal: Front Psychiatry (2023)
Keywords: fahr’s disease, parkinson personality, antipsychotics, diagnosis, psychosis
MeSH terms: Case Reports

Fahr's disease (FD) is a rare disorder, characterized by basal ganglia calcification and presenting with movement disorders, speech impairment, cognitive deficits, and neuropsychiatric symptoms. Psychotic disorders related to FD are barely described in the literature, and knowledge is missing concerning pathophysiology, course, and management. Here, we report on the long-term follow-up of a patient who had three acute episodes of FD-psychosis characterized by bizarre delusions and behavioral disorganization, without hallucinations. Genetic and metabolic causes of FD were ruled out. In all three episodes, olanzapine monotherapy rapidly and completely resolved psychosis, without inducing metabolic syndrome and extrapyramidal symptoms. In addition to the acute decompensations, the patient presented a tame, introverted, industrious, and perfectionistic personality, which we could interpret as the "parkinsonian personality" described for many other basal ganglia disorders. Moreover, bizarre appearance, reduced affectivity, abulia, concrete speech, and stiff motricity in the context of a mild asymmetric extrapyramidal syndrome characterized the mental status. The cognitive profile was initially marked by executive difficulties and partial agnosia, with an IQ of 86. In the course of 10 years, the patient suffered from an ischemic stroke in the left superior temporal gyrus, which provoked a decline in memory and executive functions, without any impact on the psychiatric picture. Antiphospholipid antibody syndrome emerged as the underlying cause; thus, for the first time in the literature, an overlap of FD and antiphospholipid antibody syndrome is described here. This case report stresses once more the need for better integration of psychiatry and neurology and for the investigation of secondary causes of late-onset psychosis.
Spontaneous Pneumomediastinum in a Middle-Aged Female Patient With Schizophrenia: A Case Report
Authors: Takahiko Nagamine
Journal: Cureus (2024)
Keywords: delusion, mediastinal pressure, schizophrenia, spontaneous pneumomediastinum, vacuum phenomenon
MeSH terms: Case Reports

A middle-aged female patient with schizophrenia and osteoporosis presented to the emergency department with complaints of sore throat, neck pain, and dysphagia, which was identified as spontaneous pneumomediastinum (SPM) on chest CT. SPM has been reported in anorexia nervosa, but this is the first report of SPM in schizophrenia. In anorexia nervosa, an increase in intrathoracic pressure because of vomiting can cause positive pressure SPM, but this patient was considered to have negative pressure SPM because of decreased mediastinal pressure. In schizophrenia patients with unexplained chest pain, neck pain, and dysphagia, SPM should be considered a differential disease, and a chest CT scan is useful for diagnosis.
Case report: A kidney metastasis from vulvar squamous cell carcinoma
Authors: Junwei He, Yuhe Xiao, Lu Wang, Zhaohui Wang, Jun Pan, Zunguang Bai
Journal: Front Oncol (2024)
Keywords: nephrectomy, renal metastasis, squamous cell carcinoma, vulvar carcinoma, vulvectomy
MeSH terms: Case Reports

Introduction:
Distant metastases of vulvar SCC most commonly involve the lung, liver, bone, skin, and lymph nodes. Metastasis from vulvar SCC to the kidneys is extremely rare, with only one case reported in the literature to date.
Case presentation:
We report the case of a 53-year-old postmenopausal female patient was diagnosed with vulvar squamous cell carcinoma in an external hospital and following the diagnosis, she had been performed a vulvectomy for squamous cell carcinoma of the vulva, at that time, the patient had not undergone inguinal lymphadenectomy. In July 2019, she was admitted to our hospital due to upper right quadrant pain. An enhanced whole-body CT scan showed a mixed-density tumor of the right kidney with invasion into the right renal portal vein and multiple enlarged retroperitoneal lymph nodes. Positron emission tomography-computed tomography (PET - CT) scan showed a significantly increased radioactivity uptake in the tumor and enlarged lymph nodes, but PET-CT did not show abnormal enlargement of bilateral inguinal lymph nodes and no abnormal increase in radioactivity uptake. PET-CT examination did not show recurrence in terms of local of vulvar. These results led us to be gravely worried about possible renal carcinoma, so it was agreed upon to perform laparoscopic nephrectomy of the right kidney in the same month. Histology of the resected tumor confirmed it to be poorly differentiated squamous cell carcinoma with invasion consistent with metastatic vulvar carcinoma. Based on clinical history, radiological and histological facts, the patient was diagnosed with kidney metastasis from vulvar squamous cell carcinoma. Recovery from surgery went well and the patient was transferred to the oncology department and underwent a chemotherapy regimen consisting of paclitaxel and nedaplatin for further treatment. After 6 courses of chemotherapy. For a year after treatment, the patient had lived progression-free. Unfortunately, she died of tumor progression in July 2022.
Conclusion:
Although renal metastasis from vulvar SCC is rare, renal metastasis should be considered for the patient with a history of vulvar cancer, whenever a mass is identified in the kidney. Timely surgical removal of renal metastasis may prolong the survival time.
Severe ischemic gastritis caused by chronic mesenteric ischemia
Authors: Bruno Moraes Ribas, Eduardo Camargo Rebolho, Guilherme Figueiró Ferronatto, Pedro Henrique Bragato, Hugo Genki Kagawa Akahane, Eduardo José Brommelstroet Ramos, Thienis Maria da Costa Lima, Barbara D'agnoluzzo Moreira
Journal: J Vasc Bras (2023)
Keywords: atherosclerosis, endovascular procedures, gastritis, mesenteric ischemia, mesenteric vascular occlusion
MeSH terms: Case Reports

Ischemic gastritis is a rare illness caused by localized or systemic vascular insufficiency. This condition is rarely seen in medical practice due to the vast arterial collateral blood supply to the stomach through the celiac trunk and superior mesenteric artery and also because other etiologies are much more frequent. The classic presentation of chronic ischemia is comprises the triad of postprandial pain, weight loss, and abdominal bruit. Intervention is indicated in symptomatic patients and endovascular treatment is an alternative to surgery in patients with high comorbidity that offers good results. We report a case of a 71-year-old female patient with severe ischemic gastritis with ulcers and bleeding caused by chronic mesenteric ischemia with occlusion of the celiac trunk and inferior mesenteric artery and critical stenosis of the superior mesenteric artery. The diagnosis was confirmed by imaging, and the patient underwent endovascular treatment. This is a rare condition that is difficult to diagnose and treat and a multidisciplinary team is needed for proper management.
Case Report: The value of contrast-enhanced ultrasound and contrast-enhanced computed tomography in the diagnosis of hepatic angiosarcoma
Authors: Feiqian Wang, Kazushi Numata, Hua Liang, Hiromi Tsuchiya, Litao Ruan, Mikiko Tanabe, Xiaofang Bai
Journal: Front Oncol (2023)
Keywords: contrast-enhanced computed tomography, contrast-enhanced ultrasound, diagnosis, hepatic angiosarcoma, image
MeSH terms: Case Reports

Background:
Enhanced imaging techniques have the overwhelming advantages of being noninvasive and sensitive enough to evaluate the microcirculation of lesions, thus making them accurate in the diagnosis of hepatic lesions. Unfortunately, there is very little research on and knowledge of the imaging features of a rare cancerous condition: hepatic angiosarcoma (HA).
Case summary:
In this study, we retrospectively collected the data of six patients who underwent both contrast-enhanced ultrasound (CEUS) and contrast-enhanced computed tomography (CECT), and subsequently obtained a definitive histopathologic diagnosis of HA. We described the imaging appearances of HA by comparing CEUS and CECT images. Furthermore, we analyzed these imaging characteristics from the perspective of histopathology and tumorigenesis. The study included the largest number (six) of histopathologically confirmed HA patients who had received CEUS examinations to date.
Conclusion:
By offering readers comprehensive knowledge of contrast imaging, especially CEUS, in the diagnosis of HA, our study may reduce misdiagnosis and further improve treatment options.
Metastatic bladder cancer forming a sigmoidorectal fistula after enfortumab vedotin therapy: a case report
Authors: Shinji Tamada, Daiki Ikarashi, Naoki Yanagawa, Moe Toyoshima, Kenta Takahashi, Tomohiko Matsuura, Shigekatsu Maekawa, Renpei Kato, Mitsugu Kanehira, Ryo Takata, Wataru Obara
Journal: Front Oncol (2023)
Keywords: bladder cancer, comprehensive genomic profiling, enfortumab vedotin, nectin-4, sigmoidorectal fistula
MeSH terms: Case Reports

We report the case of a 68-year-old man who developed a sigmoidorectal fistula after marked response to enfortumab vedotin for advanced bladder cancer. The patient had undergone radical cystectomy with ileal conduit after neoadjuvant chemotherapy. Six months after surgery, local recurrence in the pelvic cavity and multiple lung metastases were found, and the patient was administered pembrolizumab as second-line therapy. Due to worsening local recurrence and suspected invasion of the sigmoid colon and rectum, enfortumab vedotin was initiated as third-line therapy and comprehensive genomic profiling was simultaneously performed. Enfortumab vedotin was remarkably effective, the lung metastases disappeared, and the local recurrent lesion shrank in volume although a sigmoidorectal fistula was found to form through the tumor cavity. Immunohistochemical analysis of the tumor specimens exhibited increased nectin-4 expression. This rare case of metastatic bladder cancer with sigmoidorectal fistula associated with effective enfortumab vedotin therapy suggests that nectin-4 expression and comprehensive genomic profiling might be useful in predicting treatment response to enfortumab vedotin.
Navigating Complexity: A Rare Case of Down Syndrome With Dural Venous Thrombosis in a Neonate
Authors: SreeHarsha Damam, Revat J Meshram, Amar Taksande, Sagar Karotkar, Mahaveer S Lakra, Aditi Rawat, Astha Khurana, Chaitanya Kumar Javvaji, Naramreddy Sudheesh Reddy, Sri Sita Naga Sai Priya K
Journal: Cureus (2024)
Keywords: aspiration pneumonia, down syndrome, dural venous thrombosis, multidisciplinary management, neonate, neurophysiotherapy, respiratory distress
MeSH terms: Case Reports

This case report presents a unique clinical scenario of a 2 kg male neonate with Down syndrome complicated by dural venous thrombosis. Born via normal vaginal delivery, the infant exhibited syndromic features characteristic of Down syndrome, necessitating admission to the neonatal intensive care unit (NICU) for respiratory distress. Confirmatory karyotyping established the diagnosis. Subsequent complications included germinal matrix haemorrhage, hypoxic-ischemic encephalopathy, and aspiration pneumonia. An MRI revealed dural venous thrombosis in the left transverse sinus, an uncommon manifestation in neonates with Down syndrome. Multidisciplinary management involved respiratory support, antibiotic therapy, and neurophysiotherapy. Infectious complications, including Klebsiella pneumoniae growth, required tailored antibiotic intervention. Despite intubation and CO2 retention challenges, the neonate improved and was ultimately discharged with favourable anthropometric measurements. This case underscores the importance of a comprehensive approach to neonatal care in the context of Down syndrome, emphasising the need for early recognition and management of rare complications such as venous thrombosis. The positive outcome highlights the efficacy of a multidisciplinary strategy in addressing complex neonatal conditions.