OpenMed/multicare-articles huggingface dataset:
Case report: Mexiletine suppresses ventricular arrhythmias in Andersen-Tawil syndrome
Authors: Jing Yang, Kun Li, Tingting Lv, Ying Xie, Fang Liu, Ping Zhang
Journal: Front Cardiovasc Med (2022)
Keywords: andersen-tawil syndrome, kcnj2, case report, mexiletine, ventricular arrhythmias
MeSH terms: Case Reports

It is arduous to determine clinical solutions for Andersen-Tawil syndrome (ATS) in patients intolerant of β-blocker. Here, we present the case of a 7-year-old boy with periodic paralysis and dysmorphic features who experienced syncope four times during exercise. His ECG revealed enlarged U waves and QU-prolongation associated with ATS-specific U wave patterns, frequent PVCs, and non-sustained bidirectional or polymorphic ventricular tachycardia. The genetic test showed a de novo missense R218W mutation of KCNJ2. With the diagnosis of ATS and intolerance of β-blocker, the patient was prescribed oral medications of mexiletine 450 mg/day without severe adverse effects. The repeat ECG showed decreased PVC burden from 38 to 3% and absence of ventricular tachycardia. He remained symptom-free during over 2 years of outpatient follow-up. This case demonstrates a new anti-arrhythmic therapy with mexiletine for prevention of life-threatening cardiac events in patients with ATS who are intolerant of β-blocker treatment.
Acute carotid stent thrombosis
Authors: Muzaffer Kahyaoglu, Murat Velioglu, Cetin Gecmen, Arzu Kalayci, Ender Ozgun Cakmak, İbrahim Akin Izgi
Journal: J Cardiovasc Thorac Res (2018)
Keywords: carotid stent, thrombosis, tirofiban, t-pa
MeSH terms: Case Reports

Carotid artery stenting is a method used in the treatment of extracranial carotid artery stenosis that is becoming increasingly more common. Acute carotid thrombosis following CAS is a very rare and devastating complication that can be lethal for the patient unless treated immediately. We report a case of acute carotid stent thrombosis occurring immediately after emergent revascularization, and that was treated with intraarterial tissue plasminogen activator and intravenous tirofiban infusion.
The ugly face of deep vein thrombosis: Phlegmasia Cerulea Dolens-Case report
Authors: Ayman S ELsaid, Abdullah Saleh AlQattan, Ehab Elashaal, Humood AlSadery, Ibrahim AlGhanmi, Bander Fuhaid Aldhafery
Journal: Int J Surg Case Rep (2019)
Keywords: deep vein thrombosis, endovascular procedures, may turner syndrome, phlegmasia cerulean dolens

Introduction:
Phlegmasia Cerulea Dolens (PCD), a rare & life-threatening condition caused by a massive deep venous thrombosis that is associated with arterial occlusion caused by the subsequent compartment syndrome.
Case presentation:
A 56-year-old male was diagnosed as a case of extensive left femoral DVT & pulmonary embolism. Two days after being managed by systemic thrombolytics & heparin, his condition worsened as he developed cyanosis of the affected limb, compartment syndrome & foot drop so he was referred to our facility for further management. CT venogram showed a thrombosis of the left popliteal vein extending into the left common iliac vein confirming the diagnosis of PCD & May-Turner syndrome. We adopted a limb preserving approach using a pharmacomechanical catheter directed thrombolysis (PCDT). The patient recovered fully with a complete resolution of his foot drop.
Discussion:
Several treatment options have been suggested to improve the outcomes of PCD, but due to the rarity of this condition a gold standard treatment is still controversial. But regardless of the chosen approach, there is an urgent need to decrease the thrombus burden to prevent further adverse sequelae like amputation or even death which can be achieved by using PCDT as it was demonstrated in our case.
Conclusion:
Our case shows that a rare entity of DVT as PCD could be a result of improper management of acute proximal DVT in the background of anatomical variabilities & that despite the late presentation of such a rare condition there still a role for a limb preserving approach with endovascular techniques.
Life-Threatening Intrapulmonary Hemorrhage due to Vancomycin-Induced Thrombocytopenia: A Case Report
Authors: Haneen Abdalhadi, Yazan Fahmawi, Abhijin Das, Brian Fouty
Journal: Case Rep Crit Care (2020)
MeSH terms: Case Reports

Thrombocytopenia is a rare and sometimes life-threatening complication of Vancomycin. A 52-year-old male patient with acute kidney injury was treated with Vancomycin for ventilator-associated pneumonia. Three days later, his platelets decreased from 172 × 109/L to 3 × 109/L over a 36-hour period. The patient developed significant intrapulmonary bleeding leading to profound hypoxemia. Workup was negative for thrombotic thrombocytopenic purpura, disseminated intravascular coagulopathy, atypical hemolytic uremic syndrome, heparin-induced thrombocytopenia, and autoimmune diseases. All recently started medications were discontinued, and the patient was started empirically on methylprednisolone and intravenous immunoglobulin. The patient's platelets increased, and his airway bleeding stopped within 48 hours; his platelet count returned to normal by 18 days. Vancomycin-dependent anti-platelet antibodies were identified in the patient's serum by flow cytometry. Thrombocytopenia is an underrecognized complication of Vancomycin that can lead to life-threating bleeding. Stopping Vancomycin may be sufficient to reverse the thrombocytopenia in patients with normal renal function, but more aggressive measures such as steroids, IVIG, and dialysis may be required to stop bleeding and reverse thrombocytopenia in patients with underlying kidney injury who cannot effectively excrete Vancomycin.
Severe ectopic Cushing syndrome in a transgender man with a metastatic gastrinoma and an adrenal tumor-A case report and review of the literature
Authors: Arnika Wydra, Karolina Cylke-Falkowska, Izabella Czajka-Oraniec, Agnieszka Kolasińska-Ćwikła, Jarosław Ćwikła, Wojciech Zgliczyński, Maria Stelmachowska-Banaś
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: adrenal adenoma, ectopic cushing syndrome, gastrinoma, pancreatic neuroendocrine neoplasm, transgender
MeSH terms: Adrenal Gland Neoplasms / complications, Adrenal Gland Neoplasms / surgery, Cushing Syndrome / complications, Cushing Syndrome / diagnosis, Gastrinoma / complications, Gastrinoma / surgery, Transgender Persons, Review, Case Reports, Adrenocorticotropic Hormone, Adult, Humans, Male, Adrenocorticotropic Hormone

A 38-year-old transgender man with advanced metastatic functional pancreatic neuroendocrine neoplasm (PanNEN) gastrinoma was admitted to the Department of Endocrinology due to severe ACTH-dependent hypercortisolemia. An ectopic production of ACTH by PanNEN was suspected. The patient qualified for bilateral adrenalectomy after preoperative treatment with metyrapone. Finally, the patient underwent resection of the left adrenal gland with the tumor only, which surprisingly resulted in a significant decrease in ACTH and cortisol levels, leading to clinical improvement. Pathology report revealed an adenoma of the adrenal cortex with positive ACTH staining. The result of the simultaneous liver lesion biopsy confirmed a metastatic NEN G2 with positive ACTH immunostaining as well. We looked for a correlation between gender-affirming hormone treatment and the onset of the disease and its rapid progression. This may be the first case describing the coexistence of gastrinoma and ectopic Cushing disease in a transsexual patient.
Wake-up stroke: clinical characteristics, imaging findings, and treatment option - an update
Authors: D Leander Rimmele, Götz Thomalla
Journal: Front Neurol (2014)
Keywords: dwi-flair-mismatch, acute ischemic stroke, computed tomography, fluid attenuated reversion recovery, magnetic resonance imaging, thrombolysis, wake-up stroke
MeSH terms: Review

About 25% of all strokes occur during sleep, i.e., without knowledge of exact time of symptom onset. According to licensing criteria, this large group of patients is excluded from treatment with received tissue-plasminogen activator, the only specific stroke treatment proven effective in large randomized trials. This paper reviews clinical and imaging characteristics of wake-up stroke and gives an update on treatment options for these patients. From clinical and imaging studies, there is evidence suggesting that many wake-up strokes occur close to awakening and thus, patients might be within the approved time-window of thrombolysis when presenting to the emergency department. Several imaging approaches are suggested to identify wake-up stroke patients likely to benefit from thrombolysis, including non-contrast CT, CT-perfusion, penumbral MRI, and the recent concept of diffusion weighted imaging-fluid attenuated inversion recovery (DWI-FLAIR). A number of small case series and observational studies report results of thrombolysis in wake-up stroke, and no safety concerns have occurred, while conclusions on efficacy cannot be drawn from these studies. To this end, there are ongoing clinical trials enrolling wake-up stroke patients based on imaging findings, i.e., the DWI-FLAIR-mismatch (WAKE-UP) or penumbral imaging (EXTEND). The results of these trials will provide evidence to guide thrombolysis in wake-up stroke and thus, expand treatment options for this large group of stroke patients.
Yolk Sac Tumor in an Eight-Year-Old Girl: A Case Report and Literature Review
Authors: Li Hsun Chen, Kui-Chuen Yip, Hsing-Ju Wu, Su-Boon Yong
Journal: Front Pediatr (2019)
Keywords: alpha-fetoprotein, chemotherapy, pediatric, surgery, yolk sac tumor
MeSH terms: Case Reports

Yolk sac tumor (YST), which most frequently arises in the gonads as a type of germ cell tumor, is rare in children but is highly malignant. It has been suggested that alpha-fetoprotein (AFP) can be applied as a feasible tumor marker because its level was elevated in >90% of YST. The treatment generally involves debulking surgery of tumors followed by systemic chemotherapy. Metastasis process of YST in children is different from that in adults and thus the treatment option is required. In this study, we described a rare case of YST in terms of the clinical manifestation, imaging, and histopathology findings, diagnosis and treatment in an 8-year-old girl. Furthermore, it is important to investigate more thoroughly a patient with history of intermittent abdominal pain and fever with previously multiple accesses, because these might be the critical signs for YST that should be alarmed for early treatment. Although YST is rare in children, pediatric physicians should be aware of this and prompt treatment should be addressed.
Primary hydatid cyst of the gallbladder: a case report
Authors: Avdyl Krasniqi, Dalip Limani, Lumturije Gashi-Luci, Gazmend Spahija, Ismail A Dreshaj
Journal: J Med Case Rep (2010)

Introduction:
Echinococcosis, or hydatid disease, is endemic in some regions of the world, and has been a common pathology of surgical wards in Kosovo. Primary hydatid cyst of the gallbladder is an unusual and very rare localization of hydatid disease. So far, only five cases that fulfill the criteria of primary gallbladder hydatidosis have been published in the English medical literature.
Case presentation:
We report a case of a 39-year-old Kosovan Albanian woman referred to the Abdominal Surgery Division of the University Clinical Center of Kosovo for "a calcified hydatid cyst of the liver with gallbladder involvement". Her history was significant for chronic right upper quadrant pain, characterized as intermittently colicky pain, accompanied by nausea. The patient underwent right subcostal laparotomy. Intra-operatively, a calcified primary hydatid cyst of the gallbladder was found. Its pericyst was tightly attached to the liver. Complete pericystectomy with cholecystectomy followed. The histopathology confirmed the presence of calcified hydatid cyst of the gallbladder, and that the cyst had developed entirely extra-mucosally. Five year follow-up showed no recurrence of disease.
Conclusion:
Primary hydatid cyst of the gallbladder is a very rare clinical entity. Accurate preoperative diagnostic localization is not always easy, particularly in centers with limited diagnostic tools.
Epiploic Appendagitis Causing Small Bowel Obstruction: A Pleasant Surprise
Authors: Theodoros Hadjizacharias, Dionysios Dellaportas, Despoina Myoteri, Constantinos Nastos, Stavros Chaniotis, George Polymeneas
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Introduction:
Epiploic appendagitis is a rare cause of acute abdominal pain, mimicking acute diverticulitis or appendicitis. Epiploic appendagitis causing small bowel obstruction is highly unusual, and only a handful of such cases have been reported so far. Case Report. A 69-year-old man presented with diffuse abdominal pain and vomiting over the last 12 hours. Clinical examination, laboratory, and imaging investigations showed small bowel obstruction, and after 12 hours of conservative management, surgical exploration was decided. During surgery, a dilated terminal ileum bowel loop was found densely adhered to the sigmoid colon, attached to an inflamed epiploic appendix. The small bowel was mobilized and freed, and the inflamed epiploic appendix was resected. The postoperative course was uneventful, and the patient was discharged on the 5th postoperative day.
Conclusion:
Epiploic appendagitis, although a rare clinical entity, may explain small bowel obstruction symptoms.
Rare Primary Adrenal Tumor: A Case Report of Teratomas and Literatures Review
Authors: Xiaomin Wang, Xiaoguang Li, Hongjia Cai, Wei Xiao, Peng Su, Xiang Huang, Xu Luo, Neng Zhang, Ni Fu
Journal: Front Oncol (2022)
Keywords: adrenal gland, case report, imaging and pathological features, laparoscopic resection, teratoma
MeSH terms: Case Reports

Teratomas are very rare, originating from embryonal germ layers. The majority of them are mature, most common in the gonads, and with only 15% out of gonads. In particular, primary adrenal teratomas are extremely rare. The present study reported a case of a young female patient with right adrenal tumor who underwent intermittent pain in the right waist and abdomen and whose CT of adrenal gland showed an 88 mm × 79 mm × 69 mm mass. Besides, her adrenal gland-related hormones are not abnormal. Laparoscopic adrenal tumor resection was performed on her and the histopathological results confirmed that the mass was mature adrenal teratomas. As a newly diagnosed case, strict and regular follow-up is needed, and it is also necessary to detect her AFP and check her adrenal CT in the future. In addition, we have reviewed the literature from 1952 to the present, and a total of 49 cases of adrenal teratoma have been identified and analyzed.
A minimally invasive management for abdominal compartment syndrome in severe acute pancreatitis
Authors: Han-Kui Hu, Xiao-Jiong Du, Ang Li, Neng-Wen Ke, Wei-Ming Hu
Journal: Pak J Med Sci (2013)
Keywords: abdominal compartment syndrome, decompression, multiple organ dysfunction syndrome, severe acute pancreatitis
MeSH terms: Case Reports

Three patients with severe acute pancreatitis (SAP) developed into overt abdominal compartment syndrome (ACS) and confirmed or suspected infection of necrotic tissue. We successfully treated these patients by minimally invasive decompression with the assist of laparoscope after the failures of intensive care treatments. This technique we report here may be another safe and effective management for ACS in SAP.
Aplastic anemia secondary to nivolumab and ipilimumab in a patient with metastatic melanoma: a case report
Authors: D E Meyers, W F Hill, A Suo, V Jimenez-Zepeda, T Cheng, N A Nixon
Journal: Exp Hematol Oncol (2018)
Keywords: adverse events, ctla-4, immune checkpoint blockade, immunotherapy, melanoma, pd-1
MeSH terms: Case Reports

Background:
Immune checkpoint blockade (ICB) is becoming an increasingly prevalent strategy in the clinical realm of cancer therapeutics. With more patients being administered ICB for a host of tumor types, the scope of adverse events associated with these drugs will likely grow. Here we report a case of aplastic anemia (AA) in a patient with metastatic melanoma secondary to dual ICB therapy. To our knowledge, this is only the second case of AA secondary to dual ICB in the literature, and the first to have a positive patient outcome.
Case presentation:
A 51-year old male with metastatic melanoma was started on dual immune checkpoint blockade, in the form ipilimumab (3 mg/kg) and nivolumab (1 mg/kg). Two weeks following the second cycle, he presented to the emergency department with profound polypipsia, polyuria and fatigue. The patient was diagnosed with diabetic ketoacidosis secondary to immune therapy induced type-1 diabetes and was admitted to the ICU. While in hospital the patient developed a symptomatic anemia and neutropenia. A bone marrow biopsy revealed a markedly hypocellular marrow with trinlineage hypoplasia with no evidence of myelodysplasia, neoplasm or excess blasts. Flow cytometry revealed an inverted CD4+:CD8+ ratio and an absence of hematogones. Taken together the presumed etiology was AA secondary to immunotherapy. The patient was subsequently started in IV methylprednisone 70 mg/day for 8 days, followed by a prednisone taper. This intervention rectified the bicytopenia and to date the patient has shown stable blood counts.
Conclusion:
With the use of ICBs becoming increasingly prevalent in the clinical arena, the number of patients presenting with immune-related adverse events will likely increase. The current case illustrates the need to be vigilant when managing cancer patients receiving ICB. The resolution of this patient's AA with corticosteroids highlights the value of early detection and appropriate treatment of these rare immune-mediated adverse events.
Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report
Authors: Doua Khalid Al Homyani, Shahad Khalid Alhemaiani
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: 1,25-dihydroxyvitamin d, 25 hydroxyvitamin d, cyp27b1 gene, vddr1a, dependent rickets
MeSH terms: 25-Hydroxyvitamin D3 1-alpha-Hydroxylase / genetics, Familial Hypophosphatemic Rickets / pathology, Case Reports, Child, Child, Preschool, Female, Humans, Infant, Newborn, Male, Mutation, Vitamin D / therapeutic use, Vitamins, Vitamins, Vitamin D, 25-Hydroxyvitamin D3 1-alpha-Hydroxylase, CYP27B1 protein, human, Vitamin D Hydroxylation-Deficient Rickets, Type 1A

Background:
Vitamin D-dependent rickets type 1A (VDDR1A) rickets is an uncommon kind of rickets that affects both boys and girls. Children with mutations are normal at birth and present at around 6 months to 2 years of age with symptoms. When suspected, genetic testing is required to confirm the diagnosis.
Case presentation:
This is a case report of VDDR1A in a 4-year-old boy who presented with delayed growth, inability to stand, and rachitic bone deformities. The diagnosis was reached by anthropometric measurement, bone profile, and radiological studies, then confirmed by genetic testing, which revealed a homozygous pathogenic variant in the CYP27B1 gene. He was treated with Vitamin-D (alfacalcidol) and oral calcium.
Conclusion:
VDDR1A is caused by a mutation in the CYP27B1 gene, which impairs the 1 hydroxylase enzyme, which compromises vitamin-D production.
A Rare Case of Septic Shock Secondary to Emphysematous Hepatitis
Authors: Khaled M Nada, Ibrahim El Husseini, Mohammad E Abu Hishmeh, Neerav S Shah, Nadezhda Ibragimova, Riyad Basir
Journal: Case Rep Crit Care (2017)
MeSH terms: Case Reports

Objective:
To describe a case of emphysematous hepatitis which is a rare clinical entity, characterized by a fatal, rapidly progressive infection of the liver with a radiological appearance simulating emphysematous pyelonephritis and to help provide more data about the causative organisms and precipitating factors of this pathology.
Data sources and synthesis:
Relevant literature was reviewed and, to the best of our knowledge, there is limited data regarding the pathogenesis, causative organisms, and management of this condition.
Conclusion:
Emphysematous hepatitis is a rapidly progressive infection that can be fatal in the absence of appropriate therapeutic intervention. Initial clinical manifestations are usually subtle and thus high clinical suspicion is required for early diagnosis and management of this condition to help decrease the mortality rates.
Iliac vein stenting in a patient with lower extremity swelling resulting from diffuse pelvic mass: A case report
Authors: Niki Tadayon, Sina Zarrintan, Seyed Masoud Hosseini, Seyed Mohammad Reza Kalantar-Motamedi
Journal: J Cardiovasc Thorac Res (2021)
Keywords: iliac vein, pelvic mass, venoplasty, venous stent
MeSH terms: Case Reports

We report a 66-year-old male patient with severe right lower extremity swelling resulting from diffuse pelvic mass with compression on right external iliac vein. The patient had papillary urothelial carcinoma of bladder seven years ago and radical cystectomy and ureterostomy was performed. Recurrence of malignancy had occurred five years after the operation. The patient had also bilateral diffuse lung metastasis. The external iliac vein had severe stenosis and invasion of pelvic mass into the vein was evident on venography. Venoplasty of external iliac vein was performed throughout the stenosis. A venous stent of 80 mm length and 12 mm diameter was introduced over the guidewire and deployed in the external iliac vein. Dramatic clinical response was evident since postoperative day two. Swelling of right lower extremity was resolved dramatically on three-month and six-month follow-up visits. We believe that endovascular venous recanalization of iliac veins is feasible and safe in patients with unresectable and diffuse pelvic masses.
Radiographic Features of Facial Cosmetic Material: Report of Two Cases
Authors: Noura A Alsufyani, Mohammed A Alsufyani
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Recently, the use of noninvasive facial cosmetic procedures has been widely disseminated. In the face, cosmetic fillers, threads, and implants are used to reduce or delay the effects of aging or adjust facial defects caused by trauma or disease. The dentist or dental specialist may encounter these materials in the radiographic images of their patients. There are few reports in the dental literature describing the radiographic appearance of some materials along with the diseases they mimic. As the procedures and materials advance and evolve, dentists and dental specialists must be aware of their radiographic appearance to avoid errors in diagnosis. This is a report of two cases that include panoramic radiography and CBCT scan. Among these cases, there is an unusual appearance of a cosmetic filler due to a subperiosteal injection method. Moreover, it will discuss common types of cosmetic materials used in the face and their imaginological appearance. This is the key to dentists and dental specialists due to increasing use of facial cosmetic materials and a parallel increase in the use of cone beam CT and chances to encounter such findings.
Primary diffuse large B-cell tumor of the uterus: a case report
Authors: Zhiming Zhang, Qing Yang
Journal: Front Med (Lausanne) (2023)
Keywords: diagnosis, diffuse large b-cell tumor, extra-nodal lymphoma, treatment, uterus
MeSH terms: Case Reports

Primary diffuse large B-cell tumor of the uterus is a rare clinical condition with a similar clinical presentation to gynecologic tumors and is easily misdiagnosed. We report a case of a postmenopausal woman who presented with pelvic mass. Her ultrasound and MRI examinations suggested diffuse enlargement of the uterus, leading us to consider the diagnosis of lymphoma. The histological examination of the uterine mass confirmed the diagnosis of diffuse large B-cell lymphoma. The patient received 6 cycles of chemotherapy with R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine and prednisone) and 2 cycles of consolidation therapy with R (rituximab). After treatment, the patient's uterus was significantly smaller than before and there was no sign of a recurrence.