OpenMed/multicare-articles huggingface dataset:
Autosomal dominant GDAP1 mutation with severe phenotype and respiratory involvement: A case report
Authors: Adrian Rodriguez-Hernandez, Meagan Mayo, Lilibeth Jauregui, Pooja Patel
Journal: Front Neurol (2022)
Keywords: cmt2k, charcot marie tooth, gdap1, case report, neuropathy
MeSH terms: Case Reports

Charcot Marie Tooth (CMT) is a heterogeneous group of genetic disorders characterized by progressive motor and sensory neuropathy. CMT is a multi-gene disorder with several possible mutations responsible for a wide range of clinical presentations. A specific mutation of the ganglioside-induced-differentiation-associated protein 1 (GDAP1) gene is associated with the axonal subtype of CMT (CMT2K) which is inherited in an autosomal dominant fashion, as well as the demyelinating subtype (CMT4A) which is inherited in an autosomal recessive pattern. Phenotypic disease expression is largely dependent on these inheritance patterns. While the autosomal recessive form (CMT4A) exhibits severe disease with an early onset, the autosomal dominant variant (CMT2K) tends to have milder phenotypes and a later onset. We describe an atypical presentation of a patient with severe CMT2K with rapidly progressive polyneuropathy, respiratory failure, and dysphonia. We suggest that this case will inspire further evaluation of disease heterogeneity and variants.
Aortic Valve Replacement for Moderate Aortic Stenosis with Severe Calcification and Left Ventricualr Dysfunction-A Case Report and Review of the Literature
Authors: Nikhil Narang, Roberto M Lang, Vladimir M Liarski, Valluvan Jeevanandam, Marion A Hofmann Bowman
Journal: Front Cardiovasc Med (2017)
Keywords: aortic stenosis, aortic valve replacement, calcific aortic valve disease, heart failure, rheumatoid arthritis
MeSH terms: Case Reports

A 55-year-old man with a history of erosive, seropositive rheumatoid arthritis (RA), and interstitial lung disease presented with shortness of breath. Echocardiography showed new-onset severe left ventricular (LV) dysfunction with an ejection fraction (EF) of 15% and moderately increased mean aortic valve gradient of 20 mmHg in a trileaflet aortic valve with severe sclero-calcific degeneration. Coronary angiography revealed no significant obstructive coronary disease. Invasive hemodynamic studies and dobutamine stress echocardiography were consistent with moderate aortic stenosis. Guideline directed medical therapy for heart failure with reduced EF was initiated; however, diuretics and neurohormonal blockade (beta-blocker and angiotensin receptor blocker) provided minimal improvement, and the patient remained functionally limited. Of interest, echocardiography performed 1 year prior to his presentation showed normal LV EF and mild aortic leaflet calcification with moderate stenosis, suggesting a rapid progressing of calcific aortic valve disease. Subsequently, the patient underwent surgical aortic valve replacement and demonstrated excellent postsurgical recovery of LV EF (55%). Calcific aortic valve disease is commonly associated with aging, bicuspid aortic valve, and chronic kidney disease. Pathophysiological mechanism for valvular calcification is incompletely understood but include osteogenic transformation of valvular interstitial cells mediated by local and systemic inflammatory processes. Several rheumatologic diseases including RA are associated with premature atherosclerosis and arterial calcification, and we speculated a similar role of RA accelerating calcific aortic valve disease. We present a case of accelerated aortic valve calcification with (only) moderate stenosis, complicated by a rapid decline in LV systolic performance. Guidelines for AVR in moderate stenosis without concomitant cardiac surgery are not well established, although it should be considered in selected patients.
Biliary Cripple and the Spectrum of Complications following Cholecystectomy: A Case Report
Authors: Anish Kumar Shrestha, Jayant Kumar Sah, Bikal Ghimire, Aashna Bhandari, Anisha Shrestha
Journal: Case Rep Surg (2022)
MeSH terms: Case Reports

Bile duct injury is a complication seen during cholecystectomy. Here, we highlight the occurrence of bile duct injury (BDI) during an open cholecystectomy who underwent hepaticojejunostomy (HJ), later presenting with a stricture of HJ. Percutaneous transhepatic biliary drainage (PTBD) was performed which led to the development of hepatic artery injury.
Reactivation of Coccidioides immitis in a Prosthetic Knee after Initiation of Chemotherapy
Authors: Zachary Ciochetto, Maria Georgen, Adam Hadro, Lauren Jurkowski, Kimberly Ridolfi, Adam Wooldridge, Nathan Gundacker, Javeria Haque
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

Coccidioides is an endemic fungus in the Southwestern United States and Central and South America. Coccidioidomycosis primary infections are typically of the lung with an asymptomatic or self-limiting course. Some infections disseminate to other parts of the body and a few can remain latent for many years. Reactivation of latent fungal disease can occur following an insult to the host immune system. Here, we describe a case of a 76-year-old Caucasian male patient who moved from California to Wisconsin with a history of coccidioidomycosis infection of the left knee that reactivated decades later in his prosthetic knee shortly after being initiated on ibrutinib (Imbruvica), a Bruton tyrosine kinase (BTK) inhibitor, for chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL). There have been some case reports regarding coccidioidomycosis infections after initiating ibrutinib therapy but none with a 50 year latency period before reactivation. Readers will learn the immunological effects of ibrutinib on the hosts' innate and adaptive immunity and its role in putting the host at risk for invasive fungal infections. We also review the literature and data on treatment regimens and recommendations based on current guidelines.
Clinical and Radiographic Features of Pycnodysostosis with Emphasis on Dentofacial Problems
Authors: Hossein Aghili, Seyed Mohammad Ali Tabatabaei, Mahdjoube Goldani Moghadam
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Pycnodysostosis (PDO) is a rare genetic disorder characterized by cathepsin K deficiency which plays an important role in bone metabolism. Among clinical features of this disease which are mainly caused by altered bone remodeling are craniofacial abnormalities such as hypoplastic maxilla and obtuse gonial angle which consequently lead to respiratory insufficiency in forms of pharyngeal narrowing and severe snoring. In this paper, another case of this rare disorder is presented along with a review on etiology and management issues of respiratory insufficiency in these patients.
Treatment of a Recurrent Periprosthetic Joint Infection with an Intramedullary Knee Arthrodesis System with Low-Amount Metallic Silver Coating
Authors: Volker Alt, Christian Heiss, Markus Rupp
Journal: J Bone Jt Infect (2019)
Keywords: staphylococcus, arthrodesis, knee, periprosthetic joint infection, silver
MeSH terms: Case Reports

We present a case of a recurrent periprosthetic knee infection treated with an intramedullary arthrodesis system coated with low amounts of metallic silver. After a follow-up of 26 months, the patient remained infection free and no silver-related complications were detected. Silver serum concentrations remained below the detection limit of 2 ppb.
Anesthetic Implications for Cesarean Section in a Parturient with Complex Congenital Cyanotic Heart Disease
Authors: Huili Lim, Chuen Jye Yeoh, Jerry Tan, Harikrishnan Kothandan, May U S Mok
Journal: Case Rep Anesthesiol (2018)
MeSH terms: Case Reports

The discordance between increased physiological demand during pregnancy and congenital cardiac pathology of a parturient is a perilous threat to the maternal-fetal well-being. Early involvement of a multidisciplinary team is essential in improving peripartum morbidity and mortality. Designing the most appropriate anesthetic care will require a concerted effort, with inputs from the obstetricians, obstetric and cardiac anesthesiologists, cardiologists, neonatologists, and cardiothoracic surgeons. We report the multidisciplinary peripartum care and anesthetic management for cesarean section (CS) of a 28-year-old primigravida who has partially corrected transposition of the great arteries, atrial and ventricular septal defect, dextrocardia, right ventricle hypoplasia, and tricuspid atresia.
Orbital radiotherapy for thyroid eye disease: case report with a review of the literature
Authors: Andrew Luu
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Thyroid eye disease (TED) is a condition mainly associated with Graves' disease. We report a patient with moderate-tosevere TED who underwent a combination of intravenous and oral steroids and orbital radiotherapy that improved her visual acuity and colour vision drastically, and decreased upper lid oedema. We review the clinical features of this unusual condition, our patient's history and treatment, and the knowledge base from the current literature.
The Management of Primary Hyperaldosteronism in a Poor Technology Environment
Authors: Jean Sossa, Dedjinnin Josue Georges Avakoudjo, Dodji Magloire Ines Yevi, Lionelle Fanou, Gilles Natchagande, Michel Michael Agounkpe, Fred Hodonou, Yao Felicien Hounto, Felix Atadokpede
Journal: Case Rep Urol (2021)
MeSH terms: Case Reports

We report a case of Conn's adenoma in a 35-year-old female successfully managed in a poor hospital technology environment.
Mesenteric Panniculitis Presenting as Fever of Unknown Etiology in a Patient with History of Abdominal Surgery
Authors: Christopher P Irwin, Joo B Lee, Andrew Kim, Ijagha Eme, Christina Schofield, George Mount
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

Mesenteric panniculitis is characterized by nonspecific fibrous inflammation of the small bowel mesentery, appendix, and mesoappendix. Clinical course is usually benign and outcome is favorable. We report a case of mesenteric panniculitis presenting as fever of unknown etiology in a patient with history of abdominal surgery.
A curious case of DBS radiofrequency programmer interference
Authors: Sanjeet S Grewal, Karim ReFaey, Amy L Grassle, Ryan J Uitti, Robert E Wharen Jr
Journal: NPJ Parkinsons Dis (2019)
MeSH terms: Case Reports

Deep brain stimulation (DBS) systems frequently rely on radiofrequency (RF) transmission for patient programming. The potential exists for other devices to interfere with communication between the internal pulse generator (IPG) and the programming device. In this paper, we are reporting a case of programming interference between the IPG and the WaveID device.
Heterotopic pancreatic cyst in the adrenal gland: A case report and review of literature
Authors: Jianzhong Lin, Yang Yu, Yi Chen, Ming Zheng, Dan Zhou
Journal: Medicine (Baltimore) (2018)
MeSH terms: Adrenal Gland Diseases / diagnostic imaging, Choristoma, Pancreas, Pancreatic Cyst / diagnostic imaging, Case Reports, Review, Female, Humans, Young Adult

Rationale:
The incidence of heterotopic pancreas (HP) is relatively rare and mainly found in the upper gastrointestinal tract, and no case of HP cyst in the adrenal gland has been reported. Informed consent has been obtained from the patient for the publication of the case details.
Patient concerns:
A 21-year-old woman who presented with chronic lower back pain for a week without urinary disturbance or gastrointestinal discomfortable.
Diagnoses:
Ultrasound (US) revealed a left renal cyst, and computed tomography (CT) showed a cyst in the area of the adrenal gland.
Interventions:
Cystectomy was successfully performed laparoscopically. Histopathologic examination of the removed cyst wall showed heterotopic pancreatic cyst accompanied by cystic degeneration.
Outcomes:
No unusual drainage or abdominal signs were observed during the 6-month follow-up.
Lessons:
Despite of its rarity, HP accompanied by cyst formation in the adrenal gland area can present with waist pain. Therefore, the possibility of such disease needs to be considered. For thorough evaluation, in addition to abdominal US, CT, and/or magnetic resonance imaging, histopathological examination should sometimes be performed to make a definite diagnosis. Total excision and regular follow-up is necessary for such cases due to the potential risk of complications or recurrent cyst formation.
Sleep apnea: before and after heart transplant
Authors: Elsa Matos, Teresa Calvo, Duarte Rocha, Ana Ferreira, Helena Moreira, Ana Mendes, Isabel Ferradosa, Ana Fernandes
Journal: Sleep Sci (2020)
Keywords: central, heart transplantation, obstructive, sleep apnea

Sleep disorder breathing is a highly prevalent public health problem and is common among patients with cardio and cerebrovascular diseases. Respiratory events are associated with numerous consequences, such as the hyperadrenergic state, known as a predictor of premature mortality in patients with heart failure. On the other hand, reduced stroke volume is associated with fluid retention in patients with heart failure, leading to changes in the upper airflow dynamics. Whether and how to treat sleep disorder breathing enables chronic cardiovascular consequences to be reversed is not fully established. Few cases are known where sleep disordered breathing diagnosis was made several years before heart transplantation. To better understand how does sleep apnea evolve and to ponder about what is the best treatment approach in this context, is the objective with this case presentation.
RETRACTED ARTICLE: Fatal factitious Cushing syndrome (Münchhausen's syndrome) in a patient with macroprolactinoma and silent corticotrophinoma: case report and literature review
Authors: Carlos André Minanni, Ana Luiza De Almeida Cardoso, Edoarda Vasco de Albuquerque Albuquerque, Luciana Pinto Brito, Ludmilla Malveira Lima Lopes, Andrea Glezer, Elisa Del Rosario Ugarte Verduguez, Berenice Bilharinho De Mendonça, Marcello Delano Bronstein, Marcio Carlos Machado, Maria Candida Barisson Villares Fragoso
Journal: Clin Diabetes Endocrinol (2015)
Keywords: cortisol immunoassay, factitious cushing’s syndrome, münchhausen’s syndrome
MeSH terms: Case Reports, Retracted Publication

Münchhausen's syndrome (MS) is a chronic factitious disorder characterized by the intentional production of clinical symptoms without external incentive. One type of MS is factitious Cushing syndrome, an extremely rare clinical situation in which the diagnosis is challenging mainly due to interference of the exogenous medication in cortisol immunoassays. We described a 26-year-old woman who was originally diagnosed with a macroprolactinoma and during follow-up developed clinical and laboratorial hypercortisolism. A transsphenoidal surgery was performed and immunohistochemistry revealed positive and diffuse staining for both hormones. Four years later, her hypercortisolism recurred and the confirmation of factitious Cushing syndrome was delayed due to conflicting laboratorial results. There are few cases in the literature of factitious Cushing syndrome, and only one had a fatal outcome. The diagnosis of this condition is complex and includes cyclic Cushing syndrome in the differential diagnosis. These patients have high morbidity and increased mortality risk and are likely to have other psychiatric disorders. Prednisone was identified as the culprit in the majority of the cases.
Endoscopic CO(2) Laser Horizontal Partial Laryngectomy in Larynx Carcinosarcoma
Authors: Andrea Ciorba, Chiara Bianchini, Valeria Iannini, Antonio Faita, Enzo Bianchini, Francesco Stomeo, Stefano Pelucchi, Antonio Pastore
Journal: Case Rep Otolaryngol (2014)

Background. Carcinosarcoma is an extremely rare malignant neoplasm, with both a malignant epithelial and mesenchymal component, that rarely affects the larynx. Aim. Aim of this paper is to describe the case of a patient affected by a larynx carcinosarcoma treated by endoscopic horizontal partial laryngectomy with CO(2) laser and particularly discuss the histogenetic hypothesis as well as the possible treatment modalities of this rare lesion. Methods. Case report and literature review. Discussion and Conclusion. Still little is known about the biology of carcinosarcoma and there is still no consensus in the literature on the treatment of these tumors. Endoscopic horizontal partial laryngectomy could represent another treatment option in selected cases.
A rare case of lung metastasis from a malignant adenomyoepithelioma of the breast: histological features and therapeutic implications
Authors: Fausto Maffini, Giuseppe Renne, Rocco Olivadese, Piergiorgio Solli, Marzia Locatelli, Giancarlo Pruneri, Massimo Barberis, Giuseppe Viale
Journal: Ecancermedicalscience (2013)
Keywords: breast carcinoma, lung metastasis, malignant adenomyoepithelioma
MeSH terms: Case Reports

We present a rare case of lung metastasis from a malignant adenomyoepithelioma of the breast. A 44-year-old woman was surgically treated in 2008 for a malignant adenomyoepithelioma of the breast. Shortly after, two lung nodules were detected through a CT scan, and a diagnosis of malignant adenomyoepithelioma was rendered.
Liposarcoma in the Inguinal Canal: Challenges in Preoperative Diagnosis and Importance of Routine Pathological Examination of "Hernia Sacs"
Authors: Christopher A Febres-Aldana, Jin Min, Marc Rafols, Irvin Willis, John Alexis
Journal: Case Rep Pathol (2018)
MeSH terms: Case Reports

Liposarcoma is the most common histologic subtype of soft tissue sarcoma in the retroperitoneum. The distinction of primary cord liposarcomas, which arise in and are confined to the inguinal canal, from inguinoscrotal extension of a retroperitoneal tumor is mandatory. Both can be found incidentally in inguinal hernia sac specimens. Preoperative diagnosis is essential for adequate surgery with clear margins. We present a clinicopathological correlation of two men with slowly growing right para-testicular masses diagnosed as inguinal hernias. Pathological examination revealed well-differentiated lipoma-like liposarcoma and well-differentiated liposarcoma mixed type (lipoma-like and sclerosing types), respectively. The first tumor was considered a primary cord liposarcoma with no recurrence on follow-up. The second tumor showed an unusual growth pattern of discontinuous nodules that gave the false impression of complete resection. This growth pattern may explain why inguinal liposarcomas have a high recurrence rate despite apparently negative surgical margins. A follow-up CT scan exposed a fatty tumor in the retroperitoneum of the second patient. Careful interpretation of imaging studies in patients with fatty inguinal masses is mandatory to rule out a retroperitoneal or intraperitoneal component. Although the two cases herein discussed represent less than 0.1% of the total inguinal hernia sacs examined over the past five years in our pathology department, we recommend routine examination of all "mass-containing" hernia sacs as missing the diagnosis of liposarcoma can lead to substantial morbidity and mortality.
Gastric ischaemia as an unusual presentation of median arcuate ligament compression syndrome
Authors: Cayetano Sempere Ortega, Ignacio Gallego Rivera, Mahmoud Shahin
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Median arcuate ligament compression syndrome is an anatomical and clinical entity defined by a combination of extrinsic compression of the coeliac axis by the median arcuate ligament and clinical manifestations. The majority of patients with features of compression experience no symptoms. The most common clinical symptoms when present are epigastric pain, nausea, vomiting and weight loss. Hypertrophy of the median arcuate ligament is a rare cause of chronic abdominal pain. We present a case of an elderly male patient who presented with acute epigastric pain, and gastric and intrahepatic portal pneumatosis on CT imaging. Emphysematous gastritis, caustic ingestion and other causes of this imaging presentation were ruled out. Imaging also showed chronic compression of the coeliac axis with compensatory hypertrophy of the gastroduodenal artery. Gastric ischaemia is a rare presentation of this syndrome, which occurs owing to the failure of compensatory mechanisms and resultant ischaemic injury to a virtual watershed vascular territory of the gastric wall. Conservative management was performed, including volume restoration, intravenous proton pump inhibitor therapy, broad-spectrum antibiotic therapy and blood transfusion. No surgical or endovascular interventional procedures were carried out. The patient showed clinical improvement soon after the initiation of treatment. Disappearance of the imaging findings was documented 2 weeks after treatment. Complete endoscopic recovery and absence of clinical alterations were observed during follow-up after 3 months.
Myopericarditis and Pericardial Effusion as the Initial Presentation of Systemic Lupus Erythematosus
Authors: Prema Bezwada, Ahmed Quadri, Atif Shaikh, Ceasar Ayala-Rodriguez, Stuart Green
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Myopericarditis with a pericardial effusion as the initial presenting feature of SLE is uncommon. We report an unusual case of myopericarditis and pericardial effusion with subsequent heart failure, as the initial manifestation of SLE. The timely recognition and early steroid administration are imperative in SLE-related myopericarditis with cardiomyopathy to prevent the mortality associated with this condition.
Peritoneal dissemination of ascending colon cancer demonstrating relapse-free survival for 40 months with panitumumab monotherapy: A case report
Authors: Katsuji Tokuhara, Nobuyuki Yamamoto, Hidehiko Hishikawa, Kazuhiko Yoshioka
Journal: Int J Surg Case Rep (2019)
Keywords: anti-egfr antibody, metastatic colorectal cancer, panitumumab, peritoneal dissemination

Introduction:
The prognosis of metastatic colorectal cancer (mCRC) patients receiving multiple cytotoxic agents and targeted therapies (CATT) has improved, but a complete cure by CATT is still very rare.
Presentation of case:
We report the successful treatment of ascending colon cancer complicated by peritoneal disseminations (PDs) with panitumumab (Pmab) plus mFOLFOX6 therapy. A 67-year-old male patient was diagnosed with clinical stage IV cancer of the ascending colon with PDs, and underwent ileostomy. Eighteen courses of Pmab plus mFOLFOX6 caused remarkable tumor shrinkage and the disappearance of PDs on ECT. Laparotomy revealed tumor shrinkage and scarring at the PD sites. We performed right hemicolectomy, subtotal omentectomy, and ileostomy closure as curability B surgery. Seven months later, new PDs were detected by ECT so we resumed Pmab plus mFOLFOX6 therapy. After nine courses of treatment, the target lesion had completely disappeared. After a total of 20 courses, we changed to Pmab monotherapy as maintenance therapy because there was no recurrence. Forty months after the initiation of Pmab monotherapy, there has been no oncologic progression.
Discussion:
Pmab plus mFOLFOX6 treatment resulted in a complete response for PDs, which is extremely rare for CATT.
Conclusion:
We consider that Pmab therapy should be introduced for the treatment of mCRC complicated by PDs.