OpenMed/multicare-articles huggingface dataset:
Retrobulbar and Tongue Base Pyogranulomatous Myositis Resulting in Strabismus in a Dog: Case Report
Authors: Alex B Sigmund, Silke Hecht, Daniel A Ward, Diane V H Hendrix
Journal: Front Vet Sci (2020)
Keywords: abscess, eye, foreign body, granuloma, myositis, strabismus
MeSH terms: Case Reports

A seven-year-old female spayed Australian Shepherd was presented for a 3-day history of left eye ventromedial strabismus, episcleral injection, protrusion of the third eyelid, miosis, and enophthalmia. Magnetic Resonance Imaging (MRI) identified lesions in the left medial pterygoid muscle and left tongue base. Cytology and histopathology revealed pyogranulomatous inflammation with rod-shaped bacteria and pyogranulomatous myositis, respectively. One month of oral antibiotics resolved both lesions. Repeat MRI showed a mild decrease in size of the left medial pterygoid muscle consistent with fibrosis. Clinically, residual, positional ventral strabismus remained upon dorsal neck extension, but all other ophthalmic abnormalities resolved. To the authors' knowledge, this is the first report of pyogranulomatous myositis causing this constellation of clinical signs and of repeat imaging depicting resolution of these lesions with therapy.
The Considerations and Controversies in Using High-Flow Nasal Oxygen with Self-Prone Positioning in SARS-CoV-2 COVID-19 Disease
Authors: Kieran P Nunn, Murray J Blackstock, Ryan Ellis, Gauhar Sheikh, Alastair Morgan, Jonathan K J Rhodes
Journal: Case Rep Crit Care (2021)
MeSH terms: Case Reports

Evidence exists for the use of high-flow nasal oxygen (HFNO) in the general critical care population for acute hypoxemic respiratory failure. There is discord between guidelines for hypoxemia management in COVID-19. Both noninvasive management and intubation present risk to patients and staff and potentially overwhelm hospital mechanical ventilator capacity. The use of HFNO has been particularly controversial in the UK, with oxygen infrastructure failure. We discuss our experience of managing COVID-19 with HFNO and awake self-prone positioning. We focus upon the less-usual case of an eighteen-year-old female to illustrate the type of patient where HFNO may be used when perhaps earlier intubation once was. It is important to consider the wider implications of intubation. We have used HFNO as a bridge to intubation or as definitive management. As we await clinical trial evidence, HFNO with self-prone positioning has a role in COVID-19 for certain patients. Response parameters must be set and reviewed, oxygen infrastructure considered, and potential staff droplet exposure minimised.
Very late-onset behavioral variant frontotemporal dementia
Authors: Henrique Cerqueira Guimarães, Tatiana de Carvalho Espindola
Journal: Dement Neuropsychol (2013)
Keywords: dementia, diagnosis, frontotemporal dementia, very late-onset
MeSH terms: Case Reports

Current concepts regarding frontotemporal lobar degeneration (FTLD) have evolved rapidly in recent years. Genetically determined FTLD cohorts have broadened our knowledge pertaining to its clinical presentation, neuroimaging findings and demographics. In this study we present a case report of a patient diagnosed with behavioral variant frontotemporal dementia diagnosis in her nineties during hospital admission for a ground-level fall. We believe this case reinforces the pervasive nature of this clinical entity, and may contribute to an increased awareness of this diagnostic possibility in late-onset dementia.
Subepithelial white deposition in the cornea associated with silicone oil and surgical management: a case report
Authors: Yuting Shao, Xin Liu, Yiyang Shu, Xiao Lv, Yanlong Bi
Journal: Front Med (Lausanne) (2023)
Keywords: amniotic membrane transplantation, anterior segment optical coherence tomography, eccentric thickening, keratopathy, silicone oil
MeSH terms: Case Reports

A 36-year-old patient presented with a complaint of an extensive "white scar" in his right eye without pain after silicone oil presence in the vitreous cavity for 12 years. Slit-lamp microscopy revealed extensive corneal leukoplakia and mild limbus neovascularization. Anterior segment optical coherence tomography revealed marked eccentric thickening of the subepithelium and normal thickness of the stroma. We proceeded with silicone oil removal and intraocular and anterior chamber lavage at first, followed by epithelial lesion excision combined with amniotic membrane transplantation 3 months later. The patient was satisfied with the clear cornea appearance.
A Jejunal Dieulafoy Lesion: Rare Case Necessitating Surgical Intervention
Authors: Misbah Yehya, Oksana Mayovska, Amanda Flick, Zbigniew Moszczynski
Journal: Int J Surg Case Rep (2020)
Keywords: dieulafoy lesion, gastrointestinal bleeding, hematochezia, hemorrhagic shock, jejunum
MeSH terms: Case Reports

Introduction:
Dieulafoy lesions are enlarged atypical submucosal vessels that erode the superimposing epithelium in the absence of a primary ulcer. They occur predominantly in the gastric mucosa; however, cases have been seen throughout the gastrointestinal (GI) tract, and rarely, the jejunum. These lesions can cause massive GI hemorrhage leading to shock.
Case presentation:
We present a healthy 19-year-old male who arrived at our institution's emergency department with multiple episodes of hematemesis and hematochezia that began earlier that morning. The patient was resuscitated and underwent a computerized tomographic (CT) angiography that did not identify any areas of active extravasation. The patient was then taken for an emergent upper and lower endoscopy that was inconclusive. He was subsequently sent for a tagged red blood cell scan, which demonstrated active bleeding in the proximal jejunum. Shortly thereafter, the patient began to decompensate requiring additional blood products and vasopressors. The decision was made for immediate operative intervention, which identified the bleeding Dieulafoy lesion (confirmed by histopathology) in the jejunum.
Discussion:
Dieulafoy lesions are rare with an initial presentation of upper or lower GI bleeding, generally treated with endoscopic intervention. They are predominately found in the stomach or duodenum. When no clear source is identified by endoscopy, further diagnostic testing may be of value. Various imaging modalities exist; however, CT angiography or radionuclide scanning are particularly sensitive and can be beneficial in localizing the bleed when preparing for operative intervention.
Conclusion:
With advances in endoscopic techniques, surgical intervention is rarely performed for a Dieulafoy lesion. If endoscopy is unsuccessful, additional imaging can be obtained to localize the source of bleeding. However, in emergent cases, when additional imaging cannot be obtained due to lack of time or resources, adequate resection of the lesion should be performed for complete resolution of the disease process. Based on the case presentation and pathologic findings, this case provides further insight into Dieulafoy lesions and the rare need for surgical management.
Multiple liver masses in a patient with breast cancer, metastasis or not? An unexpected diagnosis: hepatic fascioliasis. A case report and overview of the literature from Turkey
Authors: Çağri Damar, Arif Emre Emek, Hüseyin Uçar, Harun Erdal, Işik Conkbayir, Çiğdem Öztunali
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

A patient who underwent mastectomy of the left breast owing to breast cancer was referred to our department for abdominal ultrasonography during her routine check-up. Radiological examinations demonstrated multiple masses that tended to form clusters in the liver parenchyma, and the lesions were initially thought to represent metastases from the breast cancer. Multisite biopsies and serological tests confirmed the diagnosis of Fasciola hepatica infestation. To our knowledge, this is a unique case report of a patient with a known malignant neoplasm. We also present an overview of the literature about human fascioliasis in Turkey.
Removal of Ingested Magnetic Bodies via Laparoscopic Appendectomy
Authors: Vojtech Dotlacil, Barbora Frybova, Martin Vyhnanek, Lubos Zeman, Michal Rygl
Journal: European J Pediatr Surg Rep (2020)
Keywords: hypochondrium, laparoscopic appendectomy, magnet ingestion, pediatric, surgery
MeSH terms: Case Reports

Ingestion of a foreign body is a frequent diagnosis in the pediatric population. In a small percentage of cases, foreign bodies themselves are strong magnets, and swallowing of multiple magnetic bodies can lead to serious complications in the gastrointestinal tract. Two consecutive case reports of patients who swallowed two magnetic beads are presented. In both cases, the abdominal radiograph described two magnets in contact, one in the area of the left hypochondrium and one in the right hypogastrium. Attempts of endoscopic localization and removal were unsuccessful. Due to the failure of magnet progression, laparoscopic revision of the abdominal cavity was indicated in both patients on the 25th and 4th day after swallowing. Using the magnetic forces between the magnets and the laparoscopic instruments, the foreign bodies were localized in the appendix of the first patient and in the cecum of the other one. The magnets were extracted together with the removal of the appendix in both patients. This is one of the first articles describing the successful extraction of foreign magnetic bodies from the gastrointestinal tract via laparoscopic appendectomy.
Angiosarcoma of the breast with hypofibrinogenemia: A rare case report and review of the literature
Authors: Ran An, Jing-Yi Ma, Xi-Hao Ni, Chang-Liang Wang
Journal: Front Oncol (2022)
Keywords: angiosarcoma, breast, case report, hypofibrinogenemia, review of the literature
MeSH terms: Case Reports

Background:
Breast angiosarcoma is a rare malignant tumor, accounting for approximately 0.04% of all breast malignancies. Angiosarcoma of the breast with hypofibrinogenemia is even rarer and has not been described in man. Breast angiosarcoma is associated with high metastatic potential and poor prognosis, and there is no specific manifestation in imaging. At present, surgery is considered to be the only effective treatment. There is no unified standard for postoperative adjuvant radiotherapy and chemotherapy.
Case presentation:
A 30-year-old female patient underwent left breast mass resection under local anesthesia on May 22, 2014. Postoperative pathology showed a vasogenic tumor. On November 10, 2017, she visited us again due to left breast swelling and pain during lactation, and underwent breast mass puncture. She was diagnosed with breast hematoma and fibrinogen reduction. On November 14, 2017, mastectomy was performed under tracheal intubation and general anesthesia, and the fibrinogen gradually returned to normal after surgery. Pathological examination showed a hemangiosarcoma with hematoma formation in the left breast. According to the pathological findings and after comprehensive evaluation, the patient underwent modified radical mastectomy for left breast cancer and right axillary sentinel lymph node biopsy on December 5, 2017. The patient died on January 28, 2018 due to rupture and hemorrhage of liver cancer and hemorrhagic shock.
Conclusion:
Breast angiosarcoma with hypofibrinogenemia is a rare and highly aggressive malignancy. Clinicians should be familiar with its clinicopathological features and diagnostic criteria. Multidisciplinary approach is recommended to benefit the patients.
Congenital Diaphragmatic Hernia Presenting with Tension Pneumothorax in a 3-Year-Old Boy
Authors: Maren Friederike Balks, Jan-Hendrik Gosemann, Ina Sorge, Martin Lacher, Franz Wolfgang Hirsch
Journal: European J Pediatr Surg Rep (2018)
Keywords: congenital, diaphragmatic, hernia, pneumothorax, tension
MeSH terms: Case Reports

We report the case of a 3-year-old boy who presented with an upper respiratory tract infection and severe dyspnea. A chest X-ray revealed a left-sided tension pneumothorax with mediastinal shift and suspected enterothorax. After thoracic computed tomography (CT) scan, a chest tube was inserted, which drained fluid which had the same consistency and color as the one derived from the nasogastric (NG) tube. The boy underwent diagnostic laparoscopy for suspected bowel perforation, which confirmed a left-sided Bochdalek hernia with herniation of the viscera into the chest. After repositioning of the herniated organs into the abdomen, a gastric perforation was identified and repaired. This case demonstrates that the cause of a tension pneumothorax in an infant may be a rare combination of congenital diaphragmatic hernia (CDH) and perforation of a visceral hollow organ.
Primary hyperparathyroidism in pregnancy: a two-case report and literature review
Authors: A D Herrera-Martínez, R Bahamondes-Opazo, R Palomares-Ortega, C Muñoz-Jiménez, M A Gálvez-Moreno, J M Quesada Gómez
Journal: Case Rep Obstet Gynecol (2015)

Primary hyperparathyroidism (PHPT) in pregnant women is an uncommon disease. It could be easily misdiagnosed because of physiologic changes during pregnancy; in some cases, patients could remain asymptomatic maintaining elevated calcium serum levels, and this situation represents a threat to the health of both mother and fetus. We present two cases of PHPT during pregnancy and their evolution after surgical treatment in the second trimester; there were no observed complications during pregnancy or delivery in our patients. Early diagnosis and medical/surgical treatment in PHPT are necessary for avoiding maternal and fetal complications which could not be predicted based on duration or severity of hypercalcemia. An appropriate management of PHPT during pregnancy is necessary for preserving the health of both the woman and the fetus.
Metanephric stromal tumor with BRAF V600E mutation in an adult patient: Case report and literature review
Authors: Yuqian Fan, Jingjing Yu, Ming Zhao
Journal: Front Oncol (2022)
Keywords: braf v600e mutation, fish
MeSH terms: Case Reports

Metanephric stromal tumor (MST) is a rare, benign pediatric renal neoplasm of uncertain histogenesis that belongs to the metanephric family of tumors. MST involving adult patients is very uncommon, which could cause significant diagnostic confusions. Recent molecular studies have revealed recurrent BRAF mutations in MST in pediatric patients which may serve as powerful diagnostic tools for distinguishing MST from other renal stromal tumors. We present a BRAF-mutated MST in an adult patient with a brief review of the pertinent literature. To our knowledge, our case represents to date the sixth report of adult MST and the first adult MST proven to harbor BRAF mutation. This is a 41-year-old man who was incidentally identified to have a left renal mass by ultrasonography. He had a 5-year history of hypertension which could be controlled with oral antihypertensive drug. Partial nephrectomy was performed which demonstrated a 2.6-cm, oval, circumscribed mass with a fibrotic and firm texture. Microscopic examination showed a hypocellular, spindle cell neoplasm with entrapped nephrons, within a predominantly fibrous and focally myxoid stroma. Foci of hyalinized stroma surrounding entrapped native renal tubules or blood vessels to form concentric collarettes-like structures, and small-sized arterioles showing angiodysplasia, were observed. Immunostains showed the tumor cells to be diffusely positive for CD34. Fluorescence in-situ hybridization analysis was negative for rearrangements involving both the EWSR1 and FUS loci. Targeted next-generation sequencing disclosed a pathogenic mutation of BRAF exon15: c.1799T>A (p.V600E). The patient's hypertension normalized without oral antihypertensive drugs 2 months postoperatively and he was in good status 12 months after the surgery. Our case highlights the diagnostic dilemma of MST occurring in adults and points to the usefulness of molecular detection of BRAF mutation for arriving at accurate diagnosis.
Open Approach to Primary Lumbar Hernia Repair: A Lucid Option
Authors: Ketan Vagholkar, Suvarna Vagholkar
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Background:
Lumbar hernia is a rare type of hernia. Awareness of the anatomical basis of this hernia is important for proper diagnosis and treatment.
Introduction:
Lumbar hernia is a protrusion of either extraperitoneal fat or intraperitoneal contents through either of the lumbar triangles. Primary lumbar hernias are extremely rare thereby rendering such a case reportable, to create an awareness about this condition to upcoming surgeons.
Case report:
A case of primary lumbar hernia treated successfully by open mesh repair is presented.
Discussion:
The anatomical aspects underlying this condition along with diagnostic tests, their pitfalls, and surgical approaches are discussed.
Conclusion:
Awareness of this condition is essential for arriving at a clinical diagnosis. CT scan provides a road map for deciding the approach. Both the traditional open and the newer laparoscopic approaches are described. However open meshplasty is still a very safe and effective method of treatment.
Adult-Onset Gilles de la Tourette Syndrome: Psychogenic or Organic? The Challenge of Abnormal Neurophysiological Findings
Authors: Viviana Versace, Stefania Campostrini, Luca Sebastianelli, Mirco Soda, Leopold Saltuari, Sigrid Lun, Raffaele Nardone, Markus Kofler
Journal: Front Neurol (2019)
Keywords: blink reflex excitability recovery, blink reflex prepulse inhibition, gille de la tourette syndrome, psychogenic, tics
MeSH terms: Case Reports

Gilles de la Tourette syndrome (GTS) is characterized by multiple motor and vocal tics. Adult-onset cases are rare and may be due to "reactivation" of childhood tics, or secondary to psychiatric or genetic diseases, or due to central nervous system lesions of different etiologies. Late-onset psychogenic motor/vocal tics resembling GTS have been described. Neurophysiology may serve to differentiate organic from functional GTS. Altered blink reflex pre-pulse inhibition (BR-PPI), blink reflex excitability recovery (BR-ERC), and short-interval intracortical inhibition (SICI) have been described in GTS. We report a 48-years-old male, who developed numerous motor/vocal tics 2 months after sustaining non-commotional craniofacial trauma in a car accident. Both his father and brother had died earlier in car crashes. He presented with blepharospasm-like forced lid closure, forceful lip pursing, noisy suction movements, and deep moaning sounds, occurring in variable combinations, without warning symptoms or internal "urge." Tics showed low distractibility and these increased with attention. Standard magnetic resonance imaging, electroencephalography, and evoked potentials were unremarkable. Neuropsychology diagnosed moderately impaired intellect, attention, and executive functions. Psychiatric assessment revealed somatization disorder and generalized anxiety. BR-PPI was unremarkable, while BR-ERC was enhanced, even showing facilitation at short intervals. SICI was markedly reduced at 1 and 3 ms and intracortical facilitation (ICF) was enhanced at 10 ms. The patient fulfilled Fahn and Williams' diagnostic criteria for a psychogenic movement disorder. Neurophysiology, however, documented hyperexcitability of motor cortex and brainstem. We suggest that-similar to what has been reported in psychogenic dystonia-a pre-existing predisposition may have led to the functional hyperkinetic disorder in response to severe psychic stress.
Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies
Authors: Sanem Eren Akarcan, Ezgi Ulusoy Severcan, Neslihan Edeer Karaca, Esra Isik, Guzide Aksu, Mélanie Migaud, Ferda Evin Gurkan, Elif Azarsiz, Anne Puel, Jean-Laurent Casanova, Necil Kutukculer
Journal: Case Reports Immunol (2017)
MeSH terms: Case Reports

Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory infections. Candida albicans grew in oral mucosa swab. CMV and EBV DNA titers were elevated. She had hypergammaglobulinemia; IgE level, percentages of lymphocyte subgroups, and in vitro T-cell proliferation responses were normal. She had parenchymal nodules within the lungs and a calcific nodule in the liver. Chronic-recurrent infections with different pathogens leading to significant morbidity suggested combined immunodeficiency, CMC, or Mendelian susceptibility to mycobacterial diseases. Genetic analysis revealed a predefined heterozygous gain-of-function mutation (GOF) (c.1154 C>T, p.Thr385Met) in the gene coding STAT1 molecule. Hematopoietic stem cell transplantation (HSCT) was planned because of severe recurring infections. Patients with STAT1 GOF mutations may exhibit diverse phenotypes including infectious and noninfectious findings. HSCT should be considered as an early treatment option before permanent organ damage leading to morbidity and mortality develops. This case is presented to prompt clinicians to consider STAT1 GOF mutations in the differential diagnosis of patients with chronic Candidiasis and recurrent infections with multiple organisms, since these mutations are responsible for nearly half of CMC cases reported.
Recalcitrant Esophageal Stricture Secondary to Mycophenolate Mofetil
Authors: Joyce J Kim, Ramzi H Mulki, Kavya M Sebastian
Journal: Case Rep Gastrointest Med (2020)
MeSH terms: Case Reports

Mycophenolate mofetil (MMF) is associated with various gastrointestinal toxicities. However, limited literature studies exist reporting MMF-related gastrointestinal toxicity manifesting as esophageal strictures. We report a case of a 62-year-old male with kidney transplant on MMF, tacrolimus, and prednisone, presenting with progressive dysphagia and odynophagia. Esophagogastroduodenoscopy revealed severe esophageal stricturing with near food bolus impaction, requiring dilations, esophageal stent, and ultimately gastrostomy tube. Biopsies revealed nonspecific inflammation with no evidence of infectious/neoplastic process; thus, our multidisciplinary esophageal group determined that the process was secondary to MMF. This case demonstrates that, though rare, MMF can result in severe esophageal strictures causing significant morbidity.
Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm
Authors: Eleanor G Seaby, Rodney D Gilbert, Gaia Andreoletti, Reuben J Pengelly, Catherine Mercer, David Hunt, Sarah Ennis
Journal: Front Pediatr (2017)
Keywords: jmml, ahus, genomics, preclinical cancer, whole-exome sequencing
MeSH terms: Case Reports

CBL is a tumor suppressor gene on chromosome 11 encoding a multivalent adaptor protein with E3 ubiquitin ligase activity. Germline CBL mutations are dominant. Pathogenic de novo mutations result in a phenotype that overlaps Noonan syndrome (1). Some patients with CBL mutations go on to develop juvenile myelomonocytic leukemia (JMML), an aggressive malignancy that usually necessitates bone marrow transplantation. Using whole exome sequencing methods, we identified a known mutation in CBL in a 4-year-old Caucasian boy with atypical hemolytic uremic syndrome, moyamoya phenomenon, and dysmorphology consistent with a mild Noonan-like phenotype. Exome data revealed loss of heterozygosity across chromosome 11q consistent with JMML but in the absence of clinical leukemia. Our finding challenges conventional clinical diagnostics since we have identified a pathogenic variant in the CBL gene previously only ascertained in children presenting with leukemia. The increasing affordability of expansive sequencing is likely to increase the scope of clinical profiles observed for previously identified pathogenic variants and calls into question the interpretability and indications for clinical management.