OpenMed/multicare-articles huggingface dataset:
Multisystemic Benign Metastasizing Leiomyoma: An Unusual Condition with an Atypical Clinical Presentation
Authors: Fernando Matos, Cristina Santiago, Duarte Silva
Journal: Case Rep Radiol (2019)
MeSH terms: Case Reports

Benign metastasizing leiomyoma (BML) is a rarely found entity with few documented cases in the literature, usually occurring in women of reproductive age with a history of myomectomy or hysterectomy. The leiomyomas can metastasize to several organs, the lungs being the most commonly affected. We report a case of a 40-year-old female patient who presented at our institution with low back pain. She underwent a lumbar MR that revealed the presence of an expansive and compressive mass in the body of L4. This mass was biopsied, corresponding to a metastasizing leiomyoma with no malignant characteristics. Subsequently, a CT examination showed several soft tissue density round masses in both lungs, but the most striking feature was a 12 cm mass located in the left iliac crest. There was asymmetrical uterus enlargement, caused by the presence of several leiomyomas. Since the lesions were estrogen and progesterone positive, hormone suppression consisting of oophorectomy followed by anastrozole was the chosen treatment. No signs of progression were observed at the 6-month follow-up. This case is one of the very few that occurred in a woman with no previous uterine intervention, adding further evidence that surgery is not an essential condition for this entity to develop.
Surgical excision with left atrial reconstruction of a primary functioning retrocardiac paraganglioma
Authors: María Teresa González López, Sergio González González, Esteban Sarria García, Stella González Romero, Julio Gutiérrez de Loma
Journal: J Cardiothorac Surg (2013)
MeSH terms: Cardiac Surgical Procedures / methods, Heart Atria / surgery, Heart Neoplasms / surgery, Paraganglioma / surgery, Plastic Surgery Procedures / methods, Case Reports, Cardiopulmonary Bypass, Catecholamines / blood, Female, Humans, Middle Aged, Paraganglioma / blood, Sternotomy, Catecholamines

About 2% of all paragangliomas are located in the chest, and a few have been described to be found in the heart. Primary cardiac paragangliomas are extremely uncommon tumors and surgical experience with this neoplasm is limited. Treatment strategies described in the literature have included simple excision, excision with reconstruction, autotransplantation after excision of the tumor and even orthotopic cardiac transplantation, depending on the extent of disease. A primary retrocardiac paraganglioma catecholamine-productive was identified in an asymptomatic 49-year old female associated to familial pheochromocytoma-paraganglioma syndrome caused by germline mutation of the gen which codifies for the subunit B of succinate dehydrogenase enzyme (SDHB). The neoplasm was surgically excised from the posterior surface of the left atrium via median sternotomy using cardiopulmonary bypass. Direct ligation of feeding vessels of the tumor along with left atrial reinforcement using a pericardial patch was performed. The post-operative course was uneventful, with normalization of catecholamine secretion and no recurrence at three-month follow-up. We review the current literature about this exceptional cardiac tumor, pathophysiological conditions and options for surgical management.
Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia
Authors: Marianne Jacob, Surabhi Menon, Christina Botti, Ian Marshall
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Endochondral ossification at the level of the growth plate, an essential process involved in longitudinal growth, is regulated by hormonal and local factors including C-type natriuretic peptide and its receptor, natriuretic peptide receptor B. Biallelic loss-of-function mutations in the NPR2 gene, which encodes this receptor, cause acromesomelic dysplasia, Maroteaux type (AMDM), a skeletal dysplasia characterized by severe short stature and disproportionate shortening of limbs. Heterozygous NPR2 mutations have been reported in patients previously classified with idiopathic short stature (ISS). We report the presentation of a 7-year-old girl and her mother with short stature, both of whom were identified with the same NPR2 mutation, and who demonstrated clinical and radiological features consistent with a skeletal dysplasia. We also report the patient's response to recombinant human growth hormone (rhGH) over a 2-year period. We encourage clinicians who evaluate children with ISS to consider genetic testing, particularly when the presentation is associated with features suggestive of a skeletal dysplasia.
Case Report: Hypothyroidism Misdiagnosed as Fulminant Myocarditis in a Child
Authors: Nanjun Zhang, Shuran Shao, Yu Yan, Yimin Hua, Kaiyu Zhou, Chuan Wang
Journal: Front Cardiovasc Med (2021)
Keywords: atrioventricular block, cardiogenic shock, children, fulminant myocarditis, hypothyroidism
MeSH terms: Case Reports

Background: Hypothyroidism can lead to bradycardia, reduced cardiac output, cardiac enlargement, and abnormal electrocardiogram. However, hemodynamic instability and malignant arrhythmias due to hypothyroidism is rarely reported in children. Patient Findings: We report the case of a child with third-degree atrioventricular block, cardiogenic shock, and Adams Stokes Syndrome, who was initially misdiagnosed with fulminant myocarditis and was later found to have hypothyroidism during treatment. Summary: The child's condition did not improve after the administration of gamma globulin, methylprednisolone, and isoproterenol. Even after the placement of temporary pacemakers, the therapeutic effect was still not ideal. Upon reviewing the medical history, the child's condition improved rapidly after levothyroxine supplementation. Conclusions: Hypothyroidism is a common disease, but secondary severe cardiovascular lesions are particularly rare in children. Therefore, the delay in diagnosis can lead to serious cardiovascular manifestations. When pediatric patients develop severe AVB and bradycardia, hypothyroidism should be considered as a possible cause.
A giant fibroadenoma in a mature woman: diagnosis and treatment in a limited resource environment (a case report)
Authors: Médard Kakule Kabuyaya, Fabrice Lele Mutombo, Francine Mbonga Moseka, Kasereka Kihemba, Neil Wetzig, Justin Paluku Lussy
Journal: Pan Afr Med J (2021)
Keywords: giant, case report, fibroadenoma, management, mature woman
MeSH terms: Breast Neoplasms / diagnosis, Fibroadenoma / diagnosis, Case Reports, Adult, Breast Neoplasms / pathology, Breast Neoplasms / therapy, Female, Fibroadenoma / pathology, Fibroadenoma / therapy, Hemorrhage / etiology, Humans, Ulcer / pathology

We report an extremely rare case of a 40-year-old woman with a giant fibroadenoma of 30cm in diameter that was accompanied by ulceration and bleeding. We document the onset, the clinical presentation, as well as the challenge encountered in the diagnosis and managing in a limited resource environment.
Scrotal migration of inguinal hernia repair mesh: an unusual cause of testicular mass
Authors: Gabriele Maffi, Lorenzo Carlo Pescatori, Giovanni Mauri, Luca Maria Sconfienza
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Scrotal masses are common findings in primary care and can develop from all anatomical structures of the scrotum. They are usually painless, although pain may be present occasionally. In this report, we present the case of an unusual testicular mass caused by the migration in the scrotum of a mesh used for inguinal hernia repair. The patient was treated conservatively owing to the spontaneous resolution of symptoms.
Electronic Cigarette Burns: A Case Report and Review of Current Literature
Authors: Rachel Michael, Nabil Ebraheim, Jacob Maier, Mina Tanios, Anthony Kouri
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Due to the development of electronic cigarettes and their use in our patient population, this article seeks to evaluate the safety and associated morbidity that may result from their use. This article also presents a patient case regarding an explosion of an electronic cigarette battery and the resultant injury and deformity that occurred.
Primary Langerhans cell sarcoma in the urinary bladder: Case report and literature review
Authors: Yongbao Wei, Huaishan Hong, Haijian Huang
Journal: Front Oncol (2023)
Keywords: langerhans cell sarcoma, turbt, chemotherapy, oncological outcome, urinary bladder
MeSH terms: Case Reports

Langerhans cell sarcoma (LCS) is a rare malignancy of dendritic cells and usually results in a poor oncological outcome. Thus, LCS is usually given a positive administration. Herein, we presented the first case of primary LCS in the urinary bladder staged T1N0M0 and treated by TURBT and short-term local chemotherapy. Our experience in this unique case may suggest that LCS in the urinary bladder with a non-muscle-invasive stage may be managed according to the treatment model of non-muscle-invasive urothelial carcinoma of the urinary bladder.
Case Report: A Case of Congenital Nephrogenic Diabetes Insipidus Caused by Thr273Met Mutation in Arginine Vasopressin Receptor 2
Authors: Li Huang, Lina Ma, Linjing Li, Jiajia Luo, Tianhong Sun
Journal: Front Pediatr (2021)
Keywords: x-linked recessive inheritance, congenital nephrogenic diabetes insipidus, missense mutation, type 2 arginine vasopressin receptor 2, water reabsorption
MeSH terms: Case Reports

Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary tubular dysfunction caused mainly by X-linked recessive inheritance of AVPR2 gene mutations. Pathogenic genes are a result of mutations in AVPR2 on chromosome Xq28 and in AQP2 on chromosome 12q13. The clinical manifestations of CNDI include polyuria, compensatory polydipsia, thirst, irritability, constipation, developmental delay, mental retardation, persistent decrease in the specific gravity of urine, dehydration, and electrolyte disorders (hypernatremia and hyperchloremia). Herein, we report a rare case of CNDI caused by an AVPR2 mutation in a 2-year-old Chinese boy who had sustained polyuria, polydipsia, and irritability for more than 20 months. Laboratory examinations showed no obvious abnormality in blood sodium and chloride levels but decreased urine osmolality and specific gravity. Imaging findings were also normal. However, genetic analysis revealed a C > T transition leading to T273M missense mutations in AVPR2. We provided the boy a low-sodium diet and administered oral hydrochlorothiazide and indomethacin for 1 month, after which his clinical symptoms significantly improved. This case report suggests that CNDI is characterized by pathogenic T273M missense mutations alone and expands our understanding of the pathogenesis of CNDI.
Leiomyoma of esophagus-A case report
Authors: Gowtham Thakut, Sheetal A Murchite, Rajendra M Kulkarni, Vaishali V Gaikwad
Journal: Int J Surg Case Rep (2020)
Keywords: esophagectomy, gastrointestinal stromal tumors, leiomyoma
MeSH terms: Case Reports

Introduction:
Benign tumors of the esophagus are rare. However, among them, leiomyomas are common. Tumors larger than 5 cm are rare and may present as dysphagia or epigastric pain. Combined esophagoscopy and video-assisted thoracoscopic surgery or laparoscopic trans hiatal resection are used the management of leiomyoma of esophagus.
Presentation of case:
This case report illustrates the case of a young male who presented with dysphagia and occasional dyspnea. Imageology demonstrated an esophageal mass which on surgical exploration and histopathology, confirmed the diagnosis of leiomyoma.
Discussion:
Esophageal leiomyomas vary in their presenting size from a few centimeters to greater than 5 cm which are rare. The preferred surgical technique for leiomyomas is transthoracic enucleation without opening the mucosa, which is easier, faster, and safer compared to resection. In our patient, due to the size and location of the tumor, it was resected using an abdominal approach, and a distal esophagectomy and esophagogastrostomy were performed.
Conclusion:
A multi-modal approach involving both the endoscopic and radiologic examinations is crucial in ensuring that the morbidity of malignancy is avoided.
Differentiation syndrome in patients with acute promyelocytic leukemia
Authors: Nusiba H Elamin, Farah Rashid, Muhammad S Afana, Honar Cherif, Mohamed A Yassin
Journal: Clin Case Rep (2023)
Keywords: atra syndrome, acute leukemia, steroids
MeSH terms: Case Reports

A 48-year-old male diagnosed with acute promyelocytic leukemia (APL) started on all-trans-retinoic acid and arsenic trioxide, developed typical symptoms of differentiation syndrome, and improved dramatically on steroids. Hence, any APL patient started on chemotherapy, needs to be monitored closely for developing differentiation syndrome and to start steroid upon suspicion.
Case report: Cerebral artery air embolism during CT-guided lung nodule resection in hybrid theater
Authors: Huajie Xing, Zhiqiang Wang, Yuequan Jiang
Journal: Front Surg (2022)
Keywords: ct, air embolism, guided, hybrid theater, lung nodule, resection
MeSH terms: Case Reports

A middle-aged male received CT-guided lung nodule localization and segmentectomy for a 10-mm lesion in the right upper lung. He developed left side paralysis after surgery, which was proved to be cerebral artery air embolism caused by a CT-guided lung puncture. He achieved almost full recovery with hyperbaric oxygen therapy and intensive rehabilitation. This case highlights the possibility of cerebral artery air embolism during CT-guided lung nodule resection in hybrid theater, with emphasis on prevention and early detection of this life-threatening complication.
Cervical extension of pancreatic pseudocyst: An unusual cause of neck stiffness and dysphagia
Authors: Sneha Harish C, Rashmi Dixit, Sapna Singh, Anjali Prakash
Journal: SA J Radiol (2022)
Keywords: cervical extension, computed tomography, dysphagia, mediastinal pseudocyst, neck stiffness, pancreatitis, pseudocyst
MeSH terms: Case Reports

Pancreatic pseudocyst is a common complication that can occur following acute or chronic pancreatitis. Commonly, they are peripancreatic in location. Rarely, they can extend to the mediastinum, and further extension to the neck is even rarer. A 55-year-old man who presented with neck stiffness and dysphagia and on imaging, was found to have a cystic lesion in the neck. Aspiration of the lesion revealed raised amylase levels suggestive of a pancreatic pseudocyst.
Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma with Intramuscular Lipoma-Like Component of the Thigh
Authors: Chairat Burusapat, Nuttadon Wongprakob, Nutthapong Wanichjaroen, Chatchai Pruksapong, Kantang Satayasoontorn
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLPS) is a locally aggressive mesenchymal neoplasm composed either entirely or partly of an adipocytic proliferation showing at least focal nuclear atypia in both adipocytes and stromal cells. ALT most frequently occurs in deep soft tissue of proximal extremities (thigh and buttock) and usually presents as a deep-seated, painless mass that can slowly attain a very large size, which is one of the most common sarcomas of extremity. In the patients who presented with deep-seated tumor, distinction between intramuscular lipoma and well-differentiated liposarcoma is important due to the differences in treatment and prognosis. However, atypical well-differentiated liposarcoma with intramuscular lipoma-like component of the thigh is extremely rare. Moreover, the infiltrative growth pattern or intramuscular component may lead to a misinterpretation as intramuscular lipoma on a small biopsy. We present an unusual case of a female who presented with symptomatic mass at the thigh which has rarely been reported in English literature as an infiltrative intramuscular lipoma-like growth pattern of well-differentiated liposarcoma. Therefore, preoperative diagnosis is necessary, and correlation with imaging studies is required when one encounters with a large deep-seated mass. Atypical lipomatous tumor or well-differentiated liposarcoma should be kept in mind in the patient who presents with abnormal thigh mass.
Breakdown of Autonomously Functioning Thyroid Nodule Accompanied by Acromegaly After Octreotide Treatment
Authors: Hiroshi Nomoto, Hiraku Kameda, Akinobu Nakamura, Kazuhisa Tsuchida, So Nagai, Tatsuya Atsumi, Hideaki Miyoshi
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: acromegaly, autonomously functioning thyroid nodule, pituitary adenoma, somatostatin analog, thyrotoxicosis
MeSH terms: Case Reports

Patients with acromegaly are at increased risk of developing certain tumors, including goiter and thyroid nodules, and occasionally autonomous thyroid nodules. A 53-year-old woman presented at our hospital with untreated acromegaly. She had typical physical features of acromegaly with pituitary adenoma, and thyrotoxicosis with thyroid-stimulating hormone suppression was also confirmed. Thyroid ultrasonography and scintigraphy showed an autonomously functioning thyroid nodule on her right lobe. Because her thyrotoxicosis was mild, she was initially treated with octreotide for acromegaly. However, 1 month after octreotide administration, she developed neck pain and fever with transient thyrotoxicosis. The blood flow around the nodule then decreased and the excess trapping of isotope detected by scintigraphy was reduced, followed by normalization of insulin-like growth factor-1 levels and thyroid function. This case suggests that octreotide may have unexpected effects on autonomous thyroid nodules. However, further studies are needed to determine the clinical course of autonomously functioning thyroid nodules, including thyroid function and tumor manifestations, during octreotide therapy.
Operative management of immune checkpoint colitis following in-transit melanoma: Case report
Authors: Betzaira G Childers, Eileen Donovan, Winifred M Lo, Lauren M Janowak, Jeffrey Sussman, Christopher F Janowak
Journal: Front Oncol (2023)
Keywords: colitis, complications, hidradenitis, immune-checkpoint-inhibitor, melanoma, surgery
MeSH terms: Case Reports

Immune checkpoint inhibitors are increasingly used as powerful anti-neoplastic therapies in the setting of melanoma. Colitis is a known complication of immune checkpoint inhibitors that if often medically managed. We present a patient with stage IV melanoma with demonstrated in-transit disease undergoing immune checkpoint inhibitor therapy. The patient subsequently developed recalcitrant severe colitis that necessitated operative intervention and bowel resection. The association of immune check point inhibitors and immune related adverse effects are discussed as well as treatments of advanced colitis, including the possibility of surgical management in the setting of severe colitis with complications.
Primary Epithelioid Angiosarcoma of the Thyroid in a Patient Occupationally Exposed to Radiations
Authors: Michela Marina, Luigi Corcione, Maria Francesca Serra, Teore Ferri, Enrico Maria Silini, Graziano Ceresini
Journal: Front Endocrinol (Lausanne) (2018)
Keywords: angiosarcoma, epithelioid, radiation, survival, thyroid
MeSH terms: Case Reports

Background: Angiosarcoma (AS) of the thyroid is a rare and aggressive tumor. Its incidence is higher in iodine-deficient areas but cases unrelated to endemic goiter have been reported. Case Presentation: We describe a case of a 63-year-old Italian man living in a non-iodine-deficient area, with no previous diagnosis of thyroid disease with a history of radiation exposure. The patient-an interventional cardiologist who had worked for 15 years in an angiographic room- came to the clinical observation because of the rapid onset of dyspnea and dysphonia. Computed tomography (CT) showed a 13-cm inhomogeneous neck mass, originating from the left thyroid lobe which caused displacement and stenosis of the trachea. The patient underwent diagnostic fine-needle aspiration that was followed by total thyroidectomy and lymphadenectomy of central and left lateral cervical nodes. The final pathological diagnosis was epithelioid angiosarcoma (EAS), high grade. The preoperative staging by CT of the head, neck, abdomen, chest and pelvis was negative. At pathological staging, the tumor was angionvasive but it was limited to the thyroid; no lymphnode metastases were detected. Chemotherapy with Epirubicin and Ifosfamide was administered for 4 cycles and, then, it was discontinued due to significant bone marrow toxicity. Conclusion: One year after diagnosis, the CT of neck, abdomen, chest, and pelvis were negative. At 2 years after diagnosis, the FDG-PET was negative with no evidence of the disease at CT Due to the known association between the occurrence of angiosarcoma after radiation therapy it is tempting to speculate that in this patient the presence of thyroid EAS may be linked to radiation exposure.The patient is still alive at 62 months after diagnosis. He is on a follow-up program by a 6-month /1-year neck, chest, abdomen, and pelvis CT evaluation with no signs of metastases.
Aberrant Peripheral Immune Function in a Good Syndrome Patient
Authors: Xian Chen, Jie-Xin Zhang, Wen-Wen Shang, Wei-Ping Xie, Shu-Xian Jin, Fang Wang
Journal: J Immunol Res (2018)
MeSH terms: B-Lymphocytes / immunology, Immunologic Deficiency Syndromes / immunology, T-Lymphocyte Subsets / immunology, T-Lymphocytes, Regulatory / immunology, Case Reports, Cell Proliferation, Cell Separation, Cells, Cultured, Diarrhea, Flow Cytometry, Humans, Interferon-gamma / metabolism, Interleukin-17 / metabolism, Male, Middle Aged, Programmed Cell Death 1 Receptor / metabolism, Receptors, Antigen, T-Cell, gamma-delta / metabolism, Respiratory Tract Infections, Thymoma, Interleukin-17, PDCD1 protein, human, Programmed Cell Death 1 Receptor, Receptors, Antigen, T-Cell, gamma-delta, Interferon-gamma

Good's syndrome (GS) is often accompanied by recurrent respiratory infections and chronic diarrhea. The main purpose was to evaluate the peripheral immune status of a GS patient after thymoma resection. Twenty healthy volunteers were recruited as healthy controls (HCs). Flow cytometry was applied to determine the proportions of circuiting CD4+ T cells, CD8+ T cells, γδT cells, and regulatory T (Treg) cells in our GS patient. We also examined the proliferation capability of ex vivo CD4+ T cells and detected the levels of cytokines interferon- (IFN-) γ and interleukin-17A secreted by ex vivo immune cells from this GS patient. Compared with healthy control subjects, this GS patient had fewer B cells, an inverted ratio of CD4+/CD8+ cells, and more Treg cells in his peripheral blood. Additionally, the patient's Vδ2 T cell levels were significantly decreased despite having a normal percentage of γδT cells. Ex vivo peripheral CD4+ T cells from the patient showed insufficient proliferation and division potential as well as excessive expression of PD-1. Moreover, IFN-γ was predominantly derived from CD8+ T cells in this GS patient, rather than from CD4+ T cells and γδT cells. This GS patient had impaired T and B cell immunological alternations and cytokine disruptions after thymectomy. Detailed research should focus on therapies that can adjust the immune status in such patients for a better outcome.