OpenMed/multicare-articles huggingface dataset:
Case Report: Abdominal Cocoon With Jejuno-Ileo-Colonic Fistula
Authors: Jian Jiao, Keshu Shan, Kun Xiao, Zhenjun Liu, Ronghua Zhang, Kangdi Dong, Jin Liu, Qiong Teng, Liang Shang, Leping Li
Journal: Front Surg (2022)
Keywords: abdominal cocoon, case report, enteroenteric fistula, jejuno-ileo-colonic fistula, treatment
MeSH terms: Case Reports

Introduction:
Abdominal cocoon is a unique peritoneal disease that is frequently misdiagnosed. The occurrence of the abdominal cocoon with a jejuno-ileo-colonic fistula has not been previously reported.
Case presentation:
We admitted a 41-year-old female patient with an abdominal cocoon and a jejuno-ileo-colonic fistula. She was admitted to our hospital for the following reasons: "the menstrual cycle is prolonged for half a year, and fatigue, palpitations, and shortness of breath for 2 months". On the morning of the 4th day of admission, the patient experienced sudden, severe, and intolerable abdominal pain after defecating. An emergency abdominal CT examination revealed intestinal obstruction. Surgery was performed, and the small intestine and colon were observed to be conglutinated and twisted into a mass surrounded by a fibrous membrane, and an enteroenteric fistula was observed between the jejunum, ileum, and sigmoid colon. We successfully relieved the intestinal obstruction and performed adhesiolysis. The patient was discharged from our hospital on the 6th postoperative day, then she recovered and was discharged from Feicheng People's Hospital after another 11 days of conservative treatment, and she recovered well-during the 2-month follow-up period.
Conclusion:
Abdominal cocoon coexisting with a jejuno-ileo-colonic fistula is very rare. During the process of abdominal cocoon treatment, the patient's medical history should be understood in detail before the operation, and the abdominal organs should be carefully evaluated during the operation to avoid missed diagnoses.
Successful Treatment of Cholecysto-Antral Fistula: A Case Report
Authors: Raheel Anis, Ihab Elmesallami, Aisha Khan, Nuaman A Danawar
Journal: Cureus (2023)
Keywords: bowel obstruction, case report, cholecystoantral fistula, ct abdomen, fistula, gallstone ileus, gallstones
MeSH terms: Case Reports

Cholecysto-antral fistula and gallstone ileus are rare complications of a common disease, gallbladder stone (GBS). This fistula is developed as a prolonged complication of cholelithiasis in which the gallbladder adheres to the adjacent antrum, and a stone erodes through the wall. Among the variety of cholecystoenteric fistulae, the cholecystoduodenal fistula occurs more commonly than the cholesysto-antral fistula. In this scientific study, we present a 98-year-old male patient who came to ER with a complaint of abdominal pain, vomiting, and constipation for five days. He was vitally stable and had normal laboratory results. The plain abdominal X-ray showed dilated loops with excessive gases. His computed tomography (CT) abdomen with contrast showed small bowel obstruction secondary to an impacted gallstone at the distal jejunum, fistulous communication between the gall bladder and the antrum, and pneumobilia. Our management included endoscopic retrieval of a single gallstone from the second part of the duodenum followed by open surgical enterolithotomy, partial cholecystectomy, and closing of the fistula. Despite our case sharing many aspects with the available literature, our case, to our knowledge, is the first case of ileus gallstone occurring in a 98-year-old patient. Cholecysto-antral fistula has not been widely published in the literature. The offending gallstone presented along with the radiological Mercedes Benz sign which does not present in all cases of GBS. Typically, the obstructing GBS stops at the terminal ileum, but in our case, it was dislodged in the distal jejunum with no previous biliary symptoms. Finally, we were able to remove another single GBS from the second part of the duodenum during the preoperative upper endoscopy. The clinical diagnosis may be missed due to the vague presentation of symptoms; hence imaging, especially of the CT abdomen is crucial in establishing the diagnosis, moreover, performing an upper endoscopy could have diagnostic and therapeutic benefits. In cases like this, the main surgical intervention should be to address the bowel obstruction, and cholecystectomy with fistula closure may be added if the patient's condition is stable with minimal inflammation and adhesion.
Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency
Authors: Minsun Kim, Seung Yeob Lee, Namsu Kim, Jaehyeon Lee, Dal Sik Kim, Joonhong Park, Yong Gon Cho
Journal: Front Pediatr (2022)
Keywords: pk enzyme activity, pklr exon deletion, copy number variation, multiplex ligation-dependent probe amplification, next-generation sequencing, pgly536asp, pyruvate kinase deficiency
MeSH terms: Case Reports

Red cell pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia and the most frequent enzyme abnormality of the glycolytic pathway. To the best of our knowledge, this is the first Korean PK deficiency study that analyzes copy number variation (CNV) using next-generation sequencing (NGS). A 7-year-old girl with jaundice was admitted for evaluation of a persistent hemolytic anemia. The proband appeared chronically ill, showing a yellowish skin color, icteric sclera, hepatomegaly, and splenomegaly on physical examination. Sequence variants and CNV generated from NGS data were estimated to determine if there was a potential genetic cause. As a result, compound heterozygosity in the PKLR gene for a large exon deletion between exon 3 and exon 9 accompanied with a novel rare p.Gly536Asp variant located on exon 10 was identified as a cause of severe PK deficiency in the proband. The PK activity of the proband had been measured at the time of day 1, 21, and 28 after receiving transfusion to indirectly assume the effect of the transfused blood, and the results were 100.9%, 73.0%, and 48.5%, compared with average of normal controls, respectively. Our report emphasizes the need to perform complete CNV analysis of NGS data and gene dosage assays such as multiplex ligation-dependent probe amplification to evaluate large deletions or duplications/insertions of the PKLR gene in patients with suspected PK deficiency.
Thymolipoma-associated Myasthenia Gravis with High Titer of Anti-MuSKAb: A Case Report
Authors: Maryam Poursadeghfard, Amin Abolhasani Foroughi, Sina Karamimagham
Journal: Int J Mol Cell Med (2019)
Keywords: myasthenia gravis, anti-muscle specific tyrosine kinase- antibody, anti-acetylcholine receptor antibody, thymolipoma
MeSH terms: Case Reports

Myasthenia gravis (MG) is a neuromuscular junction disorder caused by pathogenic autoantibodies to some parts of the post-synaptic muscle endplates. About 85% of generalized MG patients have autoantibodies against post-synaptic acetyl-choline receptors (AChR). From the 10-15% of the remaining patients, 45-50% are positive for Muscle Specific Tyrosine Kinase-Antibody (MuSK-Ab). It is believed that the thymus has a critical role in the pathogenesis of the disease with AChR-Ab, specially in patients with thymic abnormalities. In contrast, the role of thymus gland in MG with anti-MuSK-Ab is not clearly obvious. Patients with this antibody virtually have normal or only minimal follicular hyperplastic thymus. The presence of anti-MuSK Ab in a thymolipomatous (an uncommon tumor of thymus) MG is an atypical and new finding of MG because of not only thymolipoma but the presence of anti-MuSK antibodies which makes this case different from the previous reports of the antibodies-associated MG. Here, we present a young woman with thymolipoma and MG (a very uncommon kind of tumor-associated MG) and high level of anti-MuSK-Ab.
Gliosarcoma with Primary Skull Base Invasion
Authors: Quoc-Bao D Nguyen, Avital Perry, Christopher S Graffeo, Cody L Nesvick, Aditya Raghunathan, Mark E Jentoft, Brian P O'Neill, Padraig P Morris, Jonathan M Morris, Jamie J Van Gompel
Journal: Case Rep Radiol (2016)

Gliosarcoma is an uncommon variant of glioblastoma, which commonly demonstrates dural attachment. However, skull base invasion is rarely seen with this entity. Herein, we report a 44-year-old female patient diagnosed with primary intracranial gliosarcoma extensively invading the skull base and muscles of mastication. She presented to our institution with a three-month history of difficult right jaw opening and retro-orbital pressure and one week of severe right-sided postauricular headache. Head CT demonstrated a 6 cm mass with marked bony erosion. Brain MRI at a one-week interval more clearly characterized tumor extension through the right orbit and muscles of mastication, with overall growth to 7 cm and worsening midline shift. The patient underwent a right frontotemporal craniotomy for gross total resection. Pathology confirmed the diagnosis of gliosarcoma, IDH-wildtype (WHO grade IV). Her postoperative course was uneventful and she was discharged at preoperative neurologic baseline. To our knowledge, this is the third reported case of a primary intracranial gliosarcoma with direct invasion of skull base, brain parenchyma, and extracranial compartment. However, this is the first report case of primary GS invading the surrounding musculature and orbit. This case report highlights the rapid aggressiveness of gliosarcomas and further a prior undescribed radiographic and anatomic finding of skull base invasion with this entity.
Shah-Waardenburg syndrome
Authors: Abdelhalim Mahmoudi, Mohamed Rami, Khalid Khattala, Aziz Elmadi, My Abderrahmane Afifi, Bouabdallah Youssef
Journal: Pan Afr Med J (2013)
Keywords: hirschsprung's disease, intestinal aganglionosis, waardenburg-shah syndrome, neurocristopathy
MeSH terms: Hirschsprung Disease / diagnosis, Pigmentation Disorders / diagnosis, Waardenburg Syndrome / diagnosis, Case Reports, Endothelins / physiology, Fatal Outcome, Hirschsprung Disease / pathology, Hirschsprung Disease / surgery, Humans, Infant, Newborn, Male, Waardenburg Syndrome / classification, Waardenburg Syndrome / genetics, Waardenburg Syndrome / pathology, Endothelins, Waardenburg syndrome, type 4

Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities.
Stump appendicitis: a myth that can become reality
Authors: Atef Mejri, Khaoula Arfaoui, Badreddine Aloui
Journal: Pan Afr Med J (2020)
Keywords: apendectomy, complication, emergency, laparoscopy
MeSH terms: Amputation Stumps / diagnostic imaging, Appendectomy / methods, Appendicitis / diagnostic imaging, Postoperative Complications / drug therapy, Case Reports, Abdominal Pain / etiology, Adolescent, Amputation Stumps / surgery, Appendicitis / surgery, Female, Humans, Laparoscopy, Postoperative Complications / surgery, Tomography, X-Ray Computed

Stump appendicitis is a rare etiology of acute lower right quadrant abdominal pain often forgotten in the emergency room (ER). The Mac Burney scar or a previous laparoscopic appendectomy always rule out the eventuality of appendicitis and mislead management. Advanced imaging tools are more than compulsory to help correct the diagnosis. Computed tomography (CT) scan is the option of choice that may be replaced if unavailable by simple ultrasound examination. The treatment is mainly surgical. We report the case of a stump appendicitis occurring 12 years after laparoscopic appendectomy in an 18-year-old girl. The diagnosis was based on consistent clinical signs and conclusive radiological data. A successful completion appendectomy was performed with good outcome.
Long-Term Survival of a Patient with Brainstem and Recurrent Brain Metastasis from Stage IV Nonsmall Cell Lung Cancer Treated with Multiple Gamma Knife Radiosurgeries and Craniotomies: A Case Report and Review of the Literature
Authors: Andrew F Lamm, Ameer L Elaimy, Alexander R Mackay, Robert K Fairbanks, John J Demakas, Barton S Cooke, Christopher M Lee, Blake S Taylor, Wayne T Lamoreaux
Journal: Case Rep Oncol Med (2012)

The prognosis of patients diagnosed with stage IV nonsmall cell lung cancer that have brain and brainstem metastasis is very poor, with less than a third surviving a year past their initial date of diagnosis. We present the rare case of a 57-year-old man who is a long-term survivor of brainstem and recurrent brain metastasis, after aggressive treatment. He is now five and a half years out from diagnosis and continues to live a highly functional life without evidence of disease. Four separate Gamma Knife stereotactic radiosurgeries in conjunction with two craniotomies were utilized since his initial diagnosis to treat recurrent brain metastasis while chemoradiation therapy and thoracic surgery were used to treat his primary disease in the right upper lung. In his situation, Gamma Knife radiosurgery proved to be a valuable, safe, and effective tool for the treatment of multiply recurrent brain metastases within critical normal structures.
Goodpasture's Disease: An Uncommon Disease With an Atypical Clinical Course
Authors: Bethel Shiferaw, Viktor Miro, Carroll Smith, Jagadish Akella, Walter Chua, Zae Kim
Journal: J Clin Med Res (2016)
Keywords: anti-gbm antibody, atypical clinical course, goodpasture’s disease, plasmapheresis, pulmonary hemorrahge, renal failure
MeSH terms: Case Reports

Goodpasture's disease is an uncommon composite of features including renal failure with pulmonary hemorrhage secondary to an autoimmune response that specifically targets these organ systems. We present a case of particular interest in regards to atypical presentation, and the uncommon treatment that the patient underwent. A 65-year-old Afghani female arrived with complaints of nausea, vomiting, loss of appetite, malaise, decreased urine output, exertional dyspnea, and cough. The patient presented initially with renal failure and unexpectedly developed respiratory failure after hemodialysis. Initial CT of thorax revealed diffuse bilateral pulmonary edema. Subsequently, the patient received a bronchoscopy demonstrating alveolar hemorrhage, which highlights a clinician's need to maintain a differential and reassess patients. Anti-GBM antibody in the serum was detected and the renal biopsy revealed evidence of the antibody on immunofluorescence. In regards to management, the patient could only be treated with plasmapheresis as she had contraindication to initiation of immunosuppression, after which she showed significant clinical improvement. We would like to highlight the benefit of plasmapheresis without concomitant immunosuppression and recommend such an approach to be considered in similar clinical scenarios, where contraindication for immunosuppressant therapy exists.
Challenge of treating skeletal muscle metastasis during the COVID-19 pandemic in a low-resource setting
Authors: Maria Gloria Elisha Casas, Mamer Rosario, Geoffrey Battad, Adrienne Camille Mercado, Trisha Ann Hermogenes, Alvin Hernandez, Janelyn Dy-Ledesma, Avelino Alomesen, Juancho Lorenzo Valera, Arnel Christian Dy
Journal: Ecancermedicalscience (2021)
Keywords: covid-19, biopsy, frozen autograft reconstruction, lung cancer, sarcoma, skeletal muscle metastasis
MeSH terms: Case Reports

Background:
The authors report on an extremely rare case of skeletal muscle metastasis from primary lung cancer that involved the radial nerve and humerus, which was 'over-treated' with wide tumour resection and frozen autograft reconstruction upon misdiagnosis of sarcoma by intraoperative frozen section, amid pressure of expediting hospital care in a low-resource setting during the coronavirus disease (COVID-19) pandemic.
Case presentation:
A 61-year-old male living outside Metro Manila presented with painful mass in his left distal arm during the enhanced community quarantine, and requested admission upon testing negative for COVID-19. Imaging studies suggested a diagnosis of soft tissue sarcoma involving the radial nerve and humerus, and intending to prevent nosocomial severe acute respiratory syndrome coronavirus 2infection of patient, treatment was expedited by foregoing biopsy and opting for intraoperative frozen section prior to resection. Frozen section findings suggested malignancy intraoperatively, and surgical team proceeded with wide tumour resection and frozen autograft reconstruction of the humerus using plates and screws. However, permanent sections revealed metastatic carcinoma from primary non-small cell lung cancer, with positron emission tomography (PET) scan confirming lung mass in the right apical lobe.
Conclusion:
The report concludes that establishment of a definite tumour diagnosis by final histopathological analysis is indispensable, even when planning for emergent surgery in the time of the COVID-19 pandemic.
Catching Takayasu Early: Diagnosing the "Pulseless" Disease in a Child with Palpable Pulses
Authors: A R Santosh Rao, Vinay Jahagirdar, Kaanthi Rama
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Takayasu arteritis is a systemic vasculitis of large vessels that mainly involves the aorta and its branches. It normally presents in the third decade of life and is rarely seen in children. We report a case of childhood Takayasu arteritis, in a 12-year-old girl, who presented with abdominal pain and hypertension. Although all her peripheral pulses were palpable, there was a discrepancy between her upper and lower limbs' blood pressure. CT angiography revealed stenosis of the abdominal aorta, at the origin of the celiac artery and right renal artery. She was started on steroids and an antihypertensive, after which she attained remission. Five years down the line, the child has sustained remission, with no signs of disease progression. Early diagnosis of Takayasu and initiation of immunosuppression, before the onset of the classic "pulseless" phase, may contribute to improved long-term prognosis.
Guillain-Barré syndrome following different COVID-19 vaccines: a case series
Authors: Ali Shalash, Nourhan Belal, Amr S Zaki, Shady S Georgy, Mohamed Fahmy Doheim, Ahmed Hazzou, Azza Abdelnasser
Journal: Egypt J Neurol Psychiatr Neurosurg (2022)
Keywords: covid-19, case series, guillain–barré syndrome, vaccines
MeSH terms: Case Reports

Background:
The COVID-19 vaccine-related Guillain-Barré syndrome (GBS) has been described for both messenger-RNA vaccine and adenovirus-vectored types in a few cases with great public concern and the necessity to inform physicians about the variations of its presentations given its life-threatening consequences.
Case presentation:
This case series highlighted the presentation with GBS following different COVID-19 vaccinations in seven cases with ages ranging from 29 to 59 years. Three patients received the AstraZeneca vaccine, two received the Pfizer vaccine, one received Sinopharm, and one received the Janssen vaccine. Latency ranged from 5 to 60 days and cases achieved either partial or complete improvement after treatment trials. Patients responded to plasmaphereses, but not pulse steroid therapy.
Conclusion:
This case series highlights the variable presentations and outcomes of GBS following different COVID-19 vaccination from one center. The early identification and appropriate management of such cases can lead to better outcomes.
Cryptosporidial diarrhea in an immunocompetent adult: role of nitazoxanide
Authors: Naba Raj Mainali, Patrick Quinlan, Anene Ukaigwe, Shailaja Amirishetty
Journal: J Community Hosp Intern Med Perspect (2013)
Keywords: cryptosporidium, modified acid fast staining, nitazoxanide
MeSH terms: Case Reports

Diarrhea caused by Cryptosporidium is most commonly seen in patients with HIV or AIDS or other immunocompromised conditions like diabetes mellitus, or patients on a high dose of steroids or immunosuppressants. The organism is a parasite that infects gastrointestinal epithelium, producing potential life-threatening diarrhea in people with AIDS but usually self-limiting diarrhea in immunocompetent hosts. Here in, we present an interesting case of persistent diarrhea caused by Cryptosporidium in an immunocompetent adult requiring treatment with nitazoxanide.
Aspergillus fumigatus: a rare cause of peritonitis in a peritoneal dialysis patient (a case report)
Authors: Amori Engelbrecht, Roland van Rensburg, Dawood da Costa, Mogamat-Yazied Chothia
Journal: Pan Afr Med J (2022)
Keywords: fungal, aspergillus fumigatus, case report, dual infection, peritoneal dialysis
MeSH terms: Peritoneal Dialysis / adverse effects, Peritonitis / diagnosis, Peritonitis / drug therapy, Peritonitis / etiology, Case Reports, Adult, Antifungal Agents / therapeutic use, Aspergillus fumigatus, Female, Humans, Antifungal Agents

Although fungal organisms remain an uncommon cause of peritonitis in patients undergoing peritoneal dialysis, it carries significant morbidity and mortality. We describe a 36-year-old woman who presented with peritoneal dialysis-related peritonitis caused by dual infection with Staphylococcus caprae and Aspergillus fumigatus and discuss the challenges that were confronted regarding microbiological diagnosis and the selection of optimal antifungal treatment with subsequent successful resumption of peritoneal dialysis.