OpenMed/multicare-articles huggingface dataset:
Giant bulla or pneumothorax: How to distinguish
Authors: Beatrice Aramini, Ciro Ruggiero, Alessandro Stefani, Uliano Morandi
Journal: Int J Surg Case Rep (2019)
Keywords: bullectomy, chest drain, giant bulla, pneumothorax

Background:
The differential diagnosis between pneumothorax and giant bullae is thought to be straightforward but sometimes poses a challenge.
Case presentation:
We present a case of a 54-year-old Caucasian man with a giant emphysematous bulla who underwent surgical resection. He had no smoking history and had previous pneumonia episodes. The surgery was free of complications, without air leaks, and he showed good ventilation of the lung.
Discussion:
The main complications of bullae are pneumothorax, infection and hemorrhage. Pneumothorax is a serious complication in patients with compromised lung function. Therefore, it is very important to carefully distinguish bullae from pneumothorax to avoid iatrogenic pneumothorax in patients with bullous disease.
Conclusion:
We emphasize how to differentiate between giant bullae and pneumothorax utilizing history, physical examination, and radiological studies, including computed tomography (CT) scan.
The Excised Appendix Tip-To Send or not to Send, That is the Question
Authors: Lucinda Tullie, Bhumita Vadgama, Ravindar Anbarasan, Michael P Stanton, Henrik Steinbrecher
Journal: European J Pediatr Surg Rep (2018)
Keywords: antegrade continence enema, appendix, carcinoid, pediatric
MeSH terms: Case Reports

A 9-year-old boy, with previous anorectal malformation and neuropathic bladder and bowel, underwent ileocystoplasty, Monti-Mitrofanoff and appendix antegrade colonic enema procedure. The tip of the macroscopically normal appendix was sent for routine histopathology. Microscopy demonstrated a 5-mm well-differentiated neuroendocrine tumor extending into muscularis propria. K i -67 index was <2%. Due to margin involvement, the appendix conduit and surrounding skin were re-excised and a tube cecostomy was created through a separate incision. Microscopy revealed no residual neuroendocrine tumor, and no further treatment was required.
Gastrointestinal tract metastasis with subsequent intussusception and obstruction from an invasive lobular breast cancer: a case report
Authors: Binit Katuwal, Donald Morin, Ramachandra Kolachalam
Journal: J Surg Case Rep (2023)
MeSH terms: Case Reports

Breast cancer is the commonest cancer in female population with lobular subtype comprising about 10% of all breast cancers. Breast cancer metastasis occurs in 0.3-18% of patients, with lobular cancer again being the most common subtype. We present an 85-year-old female with previous history of right breast lobular carcinoma in situ (LCIS), who was diagnosed to have lobular carcinoma of breast metastasising to stomach after 10 years of initial diagnosis. After 2 years, the patient was found to have metastasis to the terminal ileum and caecum causing intussusception, which led to obstruction. The patient's primary LCIS was estrogen receptor (ER) positive, progesterone receptor (PR) negative and Her2neu negative, which correlated with both the gastric and ileocecal lesions. The gastric and ileocecal masses both were positive for CK7 and GATA 3 and negative for E-cadherin and CD20. Detailed morphological and immunohistochemical analysis can differentiate primary lobular cancer of the gastrointestinal tract from metastatic cancer.
Late Recovery from Severe Streptococcus pneumoniae Comatose Meningitis with Concomitant Diffuse Subcortical Cytotoxic Edema and Cortical Hypometabolism
Authors: Philippe Hantson, Thierry Duprez
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

A 75-year-old woman was admitted to ICU with coma following Streptococcus pneumoniae meningitis with bacteremia. Her Glasgow Coma Scale (GCS) score fluctuated around 4 to 6 over the next four weeks. There was no evidence of increased intracranial pressure (ICP). Electroencephalogram (EEG) showed only diffuse aspecific slowing. Impaired cerebral blood flow (CBF) autoregulation was suggested at transcranial Doppler (TCD). Repeated brain magnetic resonance imaging (MRI) examination failed to demonstrate venous thrombosis, arterial ischemic stroke, or brain abscesses but revealed diffuse but reversible cortical cytotoxic edema at diffusion-weighted (DW) sequences. The brain FDG-positron emission tomography (FDG-PET) showed diffuse cortical hypometabolism. The patient unexpectedly experienced a complete neuropsychological recovery the next few weeks. The suggested hypothesis to explain this unusual disease course could be a transient alteration of CBF autoregulation due to some degree of diffuse subcortical microangiopathy. A concomitant reduction of brain metabolism probably prevented the progression towards cortical irreversible ischemic damage.
Case Report: A Patient With COVID-19 Who Benefited From Hemoadsorption
Authors: Yinke Du, Zhipeng Qi, Jiangwei Ma, Da Sun, Li Yao, Bin Xu, Wei Liu, Zhaofa Xu, Yu Deng
Journal: Front Med (Lausanne) (2020)
Keywords: 2019-ncov, covid-19, epidemic, extracorporeal blood purification, treatment
MeSH terms: Case Reports

In December 2019, the 2019 novel coronavirus disease (COVID-19), which has been identified to be caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), emerged in China and spread across the world. Higher plasma levels of cytokines, including interleukin (IL)-6, IL-2, IL-7, IL-10, and tumor necrosis factor-α, were found in patients with COVID-19, which implies the occurrence of a cytokine storm and its association with disease severity. Extracorporeal blood purification has been proven to effectively remove the released inflammatory cytokines. In this study, we report on a patient with COVID-19 who benefited from hemoadsorption.
Bone Marrow Infiltration in Rosai-Dorfman Disease
Authors: Fatima Zahra Rahali, Fatima Taher, Houda Nassih, Sanae Sayagh
Journal: Case Rep Hematol (2022)
MeSH terms: Case Reports

Rosai-Dorfman disease (RDD) is a rare and benign nonLangerhans cell histiocytosis. RDD commonly affects children and young adults typically presenting with massive, painless, and bilateral cervical lymphadenopathy. Extranodal involvement is present in about 40% of cases, and bone marrow infiltration is rare and unusual. RDD prognosis is usually good, however, involvement of bone marrow is associated with poor prognosis. We report a case of RDD with bone marrow involvement occurring in a 5-year-old female. She was admitted for asthenia, gingival bleeding, and diffuse bone pain without fever. Physical examination showed pallor, petechiae over the abdomen, painless and bilateral cervical lymphadenopathy, and several bony nodules, without splenomegaly or hepatomegaly. Cell blood count revealed microcytic hypochromic anemia with thrombocytopenia. Bone marrow aspiration showed infiltration by large histiocytes with hypochromatic nuclei and abundant vacuolated cytoplasm without emperipolesis. Biopsies of bone marrow, lymph node, and bone revealed immunohistochemical features of RDD: the histiocytes were positive for CD68 and S100 protein, but negative for CD1a. The patient initially received symptomatic treatment. One week after admission, she died of septic shock before the final establishment of RDD diagnosis. This case report highlights that bone marrow involvement in RDD is rare and associated with poor prognosis. We also aim to emphasize the obligation of bone marrow exploration in patients with RDD and presenting cytopenias in order to make an early diagnosis of bone marrow infiltration.
Bilateral gonadal cysts and late diagnosis of androgen insensitivity syndrome treated by laparoscopic gonadectomy
Authors: D Tourlakis, J Schnabel, N Fersis
Journal: Case Rep Obstet Gynecol (2011)
MeSH terms: Case Reports

Background. Complete androgen insensitivity syndrome is a rare syndrome in which the uterus is absent and testes rather than ovaries are present. Patients usually visit a gynecologist due to primary amenorrhea. Case. A forty-eight-year-old woman with lower abdominal pain and anamnesis of uterus agenesis was operated on due to bilateral cystic masses. A 5 × 3 × 1.2 cm left adnexal cyst revealed the presence of a serous cyst with a hypoplastic ductus deferens. A smaller cyst of the right adnexa revealed immature testis tissue with Leydig-cell hyperplasia. After karyotype and hormonal examinations, laparoscopic gonadectomy was performed. Conclusion. Attention should be paid in all cyst-removing operations in cases of uterus agenesis, due to the high incidence of malignancy. Not of less importance is the issue of informing the patient in the most appropriate way.
Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature
Authors: M M G Vollebregt, A Malfroot, M De Raedemaecker, M van der Burg, J E van der Werff Ten Bosch
Journal: Case Reports Immunol (2015)

Rapadilino syndrome is a genetic disease characterized by a characteristic clinical tableau. It is caused by mutations in RECQL4 gene. Immunodeficiency is not described as a classical feature of the disease. We present a 2-year-old girl with Rapadilino syndrome with important lymphadenopathies and pneumonia due to disseminated Mycobacterium lentiflavum infection. An immunological work-up showed several unexpected abnormalities. Repeated blood samples showed severe lymphopenia. Immunophenotyping showed low T, B, and NK cells. No Treg cells were seen. T cell responses to stimulations were insufficient. The IL12/IL23 interferon gamma pathway was normal. Gamma globulin levels and vaccination responses were low. With this report, we aim to stress the importance of screening immunodeficiency in patients with RECQL4 mutations for immunodeficiency and the need to further research into its physiopathology.
Chronic Epstein Barr virus infection leading to classical Hodgkin lymphoma
Authors: Nawid M Sarwari, Joseph D Khoury, Cristhiam M Rojas Hernandez
Journal: BMC Hematol (2016)
Keywords: cytopenias, epstein barr virus, lymphadenopathy, lymphoma
MeSH terms: Case Reports

Background:
Chronic Epstein Barr virus (EBV) infection in an immunocompetent host has been described however it is not a common entity. It has been linked to many lymphoproliferative disorders and achieves such via many molecular mechanisms, some of which are poorly understood. In addition to infectious mononucleosis, the EBV is linked to various other hematological pathologies and autoimmune disorders.
Case presentation:
We describe the case of an elderly immunocompetent female who presented with non-specific symptomatology, lymphadenopathy, cytopenias, elevated autoantibody titers and a crescent EBV viral load that were suggestive of a multisystemic inflammatory disease related to EBV. Extensive work up including multiple bone marrow biopsy and lymphoid tissue procedures ultimately led to the diagnosis of Hodgkin lymphoma.
Conclusion:
EBV-related lymphomagenesis is complex and through the utilization of its nuclear antigens and latent membrane proteins the virus is able to shape the microenvironment to promote the various pathologies seen. Moreover, the diagnosis of EBV-associated lymphoproliferative disorders might be challenging when they present in immunocompetent individuals. Our case also represents an emphatic reminder for clinicians that spontaneous regression of lymphadenopathy is not exclusive of low-grade lymphoid malignancies.
Carcinosarcoma of the gallbladder-an exceedingly rare tumour
Authors: João Cruz, António P Matos, Jorge O Neta, Miguel Ramalho
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Carcinosarcoma of the gallbladder (CSGB) is an extremely rare tumour that presents variable proportions of malignant epithelial and mesenchymal elements. Preoperative diagnosis of CSGB is challenging owing to its non-specific clinical presentation and imaging findings. The final diagnosis requires histopathological confirmation of both the epithelial and mesenchymal components. Owing to the low incidence and poor prognosis of this tumour, it is essential to gather all the individual experience-based information. We report a case of a 52-year-old female who presented with right upper abdominal pain and vomiting for 2 weeks and a painless palpable mass on the right upper quadrant of the abdomen. Imaging studies showed a complex gallbladder mass, which was pathologically confirmed to be CSGB. To our knowledge, this is the first CSGB presented from a radiological perspective. A short literature revision of CSGB is provided.
Vacuum-stent: A combination of endoscopic vacuum therapy and an intraluminal stent for treatment of esophageal transmural defects
Authors: Lisanne M D Pattynama, Wietse J Eshuis, Mark I van Berge Henegouwen, Jacques J G H M Bergman, Roos E Pouw
Journal: Front Surg (2023)
Keywords: vacstent, anastomotic leakage, endoscopic vacuum therapy, esophagus, perforation
MeSH terms: Review

Introduction:
Endoscopic vacuum therapy (EVT) has gained a greater role in management of transmural defects in the upper gastrointestinal (GI) tract, including anastomotic leakage and esophageal perforation (e.g. Boerhaave syndrome and iatrogenic causes). The vacuum-stent is a new treatment modality, combining the benefits of EVT and an intraluminal stent.
Patients and methods:
This prospective case series describes the first ten cases of a transmural defect in the upper GI tract treated with a vacuum-stent in a tertiary referral center. All patients signed informed consent for prospective registration of relevant data on treatment and outcomes in a specially designed database. Outcome parameters were successful closure of the defect, number of endoscopies, duration of treatment and adverse events.
Results:
In total, ten patients treated with a vacuum-stent were included. Eight patients had anastomotic leakage after esophageal resection, of whom six were treated with vacuum-sponge and vacuum-stent, and two with vacuum-stent only. One patient had Boerhaave syndrome, treated with vacuum-sponge and vacuum-stent, and one had an iatrogenic perforation during pneumodilation for achalasia, treated with vacuum-stent only. Success rate was 100%, requiring a median of 5 (IQR 3-12) EVT-related endoscopies with a treatment course of median 18 (IQR 12-59) days. One patient developed an esophageal stricture, but no other vacuum-stent related adverse events were observed.
Conclusion:
The vacuum-stent, which combines benefits of EVT and an intraluminal stent, shows great feasibility and efficacy in treatment of transmural defects in the upper GI tract. Future studies should point out whether this device can prevent major (re-)surgery in these patients.
Right Unilateral Spatial Neglect Improves with Intrinsic Motivation
Authors: Hirotaka Saito, Haruka Kobayashi, Junichi Yatsu, Shigeru Obayashi
Journal: Case Rep Neurol Med (2022)
MeSH terms: Case Reports

Background. In the acute phase of stroke, it is well known that the incidence and severity of unilateral spatial neglect (USN) are more significant in the right hemisphere injuries. Still, the detection of USN in left hemisphere injuries has been increasing in recent years. This trend is because behavioral assessments have prevented the exclusion of patients who are difficult to assess for USN or apathy using conventional paper-and-pencil tests (e.g., aphasia). Right USN and post-stroke apathy share many common lesions. Therefore, clinical symptoms may overlap, but little validation considers this. Case Study. A man (62 years old) determined to have the right USN and apathy was treated for six weeks in 3 terms. In the first term (weeks 1 to 2), the patient was treated for the right USN by conventional therapy. In the second term (3-4 weeks), treatment for right USN and apathy by goal-directed therapy based on affinity behavior was implemented. In the third term (5-6 weeks), goal-directed therapy based on affinity behavior was discontinued, and treatment was returned to conventional therapy only. In the second term (goal-directed therapy based on affinity behavior), the improvement in patients' apathy (clinical assessment for spontaneity) was more significant than the effect size in the third term (conventional therapy). There were no significant differences in USN (catherine bergego scale) and intrinsic motivation (pittsburgh rehabilitation participation scale). However, the effect size in the second term tended to be larger than in the third term (conventional therapy). Clinical Rehabilitation Impact. This report aims to demonstrate the limitations of current treatment for cases determined to have both right USN and apathy. Second, to assess the extent to which this new intervention can complement the limitations of current treatment.
Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a chinese girl with transcobalamin deficiency
Authors: Juan Luo, Hongxi Guo, Lifang Feng, Luhong Yang, Xiaoqian Chen, Tingting Du, Man Hu, Hui Yao, Xiaohong Chen
Journal: Front Genet (2022)
Keywords: tcn2 gene, megaloblastic anemia, transcobalamin ii (tc ii) deficiency, vitamin b12 (cobalamin, vb12), whole-exome sequencing (wes)
MeSH terms: Case Reports

Transcobalamin (TC) deficiency is a rare autosomal recessive disease characterized by megaloblastic anemia. It is caused by cellular vitamin B12 depletion, which subsequently results in elevated levels of homocysteine and methylmalonic acid. This disease is usually diagnosed by genetic analysis of the TCN2 gene. Here, we described a 2.2-month-old Chinese girl with TC deficiency presenting with diarrhea, fever and poor feeding. Whole-exome sequencing detected a pair of compound-heterozygous mutations in TCN2 gene, c.754-12C>G and c.1031_1032delGA (p.R344Tfs*20). To our knowledge, it is the first time that they were identified and reported in TC deficiency. This study contributes to a better understanding of the TC deficiency, expanding the spectrum of TCN2 mutations in this disorder and also supporting the early diagnosis and proper treatment of similar cases in the future.
Balloon-Assisted Percutaneous Thrombin Injection for Treatment of Iatrogenic Left Subclavian Artery Pseudoaneurysm in a Critically Ill COVID-19 Patient
Authors: Hassan Al-Thani, Ahmed Hussein, Ahmed Sadek, Ali Barah, Ayman El-Menyar
Journal: Case Rep Vasc Med (2021)
MeSH terms: Case Reports

Background:
Central venous catheter represents an important tool in the management of critically ill patient. In this report, we described a COVID-19-positive case who had COVID-related complications and iatrogenic left subclavian artery pseudoaneurysm after central venous catheter insertion. Case Presentation. A 58-year-old male patient presented with a high-grade fever, myalgia, and shortness of breath due to COVID-19 infection. He required mechanical ventilation support and hemodialysis. He also developed uneventful deep vein thrombosis and myocardial infarction. As a complication of central line insertion, the patient developed pseudoaneurysm that originated from the subclavian artery with significant bleeding and large hematoma. Balloon-assisted percutaneous thrombin injection was done under ultrasound guidance. The patient was extubated 2 days later with no evidence of flow in the pseudoaneurysm. However, he lost movement in the left arm secondary to the compression of the brachial plexus from the pseudoaneurysm/hematoma, and therefore, 1.5 litres of the hematoma was evacuated in the operating room through a lateral left chest wall incision along the anterior axillary line to relieve the compression over the brachial plexus. The patient declined surgical reconstruction of the brachial plexus, and the flaccid paralysis of the arm did not recover during the follow-up.
Conclusion:
This is a case of unusual complications of COVID infection and iatrogenic left subclavian artery pseudoaneurysm postcentral vein cannulation. Balloon-assisted percutaneous thrombin injection for treatment of left subclavian artery pseudoaneurysm is feasible; however, delayed diagnosis could be associated with long-term or permanent disability.
A Case Study of Intractable Vomiting with Final Diagnosis of Neuromyelitis Optica
Authors: Rachel Bramson, Angela Hairrell
Journal: Case Rep Pediatr (2015)

This case study presents a patient living in a suburban/rural community who received appropriate referral to secondary and tertiary care for nausea and vomiting, accompanied by waxing and waning neurological symptoms, yet proved difficult to diagnose. This patient is presented to draw attention to a rare neurological disorder which should be included in the differential diagnosis of nausea and vomiting with some key neurological complaints, even in the absence of physical findings.
Challenges for Diagnostic Clarity for Post-stroke Cognitive Impairment and Behavioural Issues in Middle-Income Countries: Case Studies From Malaysia
Authors: Kwong Hsia Yap, Narelle Warren, Pascale Allotey, Daniel Reidpath
Journal: Front Neurol (2021)
Keywords: malaysia, cognitive impairment, cognitive screening, post-stroke, under-diagnosis

Following stroke, individuals require ongoing screening, diagnosis and monitoring for cognitive impairment. Services and policies around these vary widely between settings, and reports from many countries highlight persistent under-diagnosis of cognitive impairment in the months and years after stroke. Missed and delayed diagnosis of post-stroke cognitive impairment, including dementia, are important factors in shaping the experiences of people so affected and their family members, especially in low- and middle-income countries. Drawing upon ethnographic research conducted in Malaysia, this article draws upon three case studies to examine the continued health-seeking behaviour after the appearance of salient cognitive and behavioural symptoms that occurred after stroke. Findings highlight the challenges in getting formal diagnostic clarity for cognitive and behavioural symptoms in a rural setting within a middle-income country. No study participants sought help for memory or cognitive problems, partly due to limited lay awareness of cognitive impairment but more significantly due to health service factors. Despite their elevated risk for dementia, participants were not monitored for cognitive impairment during any follow-up care in various health facilities. Furthermore, caregivers' attempts to seek help when behavioural issues became untenable were met with multiple health system barriers. The journey was complicated by the meanings attached to the reactions towards cognitive symptoms at the community level. We suggest that strategies seek to increase the awareness of post-stroke cognitive and behavioural symptoms, and incorporate clear treatment pathways into the long-term care plans of community-dwelling stroke survivors.
Reconstruction of a malignant soft tissue tumor around the elbow joint using a frozen autograft treated with liquid nitrogen, in combination with a free anterolateral thigh flap: A report of two cases
Authors: Akihiro Hirakawa, Akihito Nagano, Shingo Komura, Daichi Ishimaru, Kenji Kawashima, Haruhiko Akiyama
Journal: Case Reports Plast Surg Hand Surg (2018)
Keywords: elbow, free anterolateral thigh flap, frozen autograft, malignant soft tissue tumor
MeSH terms: Case Reports

We present two cases of malignant soft tissue tumor around the elbow joint treated with en bloc resection, in which reconstruction using a frozen autograft technique in combination with a free anterolateral thigh flap offered reliable method for limb salvage and good recovery of elbow function.