OpenMed/multicare-articles huggingface dataset:
Treatment of Acquired von Willebrand Disease due to Extracorporeal Membrane Oxygenation in a Pediatric COVID-19 Patient with Vonicog Alfa: A Case Report and Literature Review
Authors: Lars Heubner, Karolin Trautmann-Grill, Oliver Tiebel, Martin Mirus, Andreas Güldner, Axel Rand, Peter Markus Spieth
Journal: TH Open (2023)
Keywords: acquired coagulation disorders, extracorporal circulation, von willebrand disease
MeSH terms: Case Reports

Acquired von Willebrand disease (aVWD) is frequently observed in patients with the need for extracorporeal membrane oxygenation (ECMO). aVWD can be treated by plasma-derived concentrates containing factor VIII (FVIII) and/or von Willebrand factor (VWF) and recombinant VWF concentrate as well as adjuvant therapies such as tranexamic acid and desmopressin. However, all of these therapeutic options possibly cause thromboembolism. Therefore, the optimal treatment remains uncertain. This report presents a case of a 16-year-old patient suffering from severe acute respiratory distress syndrome due to coronavirus disease 2019 with the need of ECMO support. Our patient developed aVWD under ECMO therapy characterized by loss of high-molecular-weight multimers (HMWM) and severe bleeding symptoms following endoscopic papillotomy due to sclerosing cholangitis. At the same time standard laboratory parameters showed hypercoagulability with increased fibrinogen level and platelet count. The patient was successfully treated with recombinant VWF concentrate (rVWF; vonicog alfa; Veyvondi) combined with topic tranexamic acid application and cortisone therapy. rVWF concentrate vonicog alfa is characterized by ultra-large multimers and absence of FVIII. Patient could be successfully weaned from ECMO support after 72 days. Multimer analysis 1 week after ECMO decannulation showed an adequate reappearance of HMWM.
Case Report: Multiple Sclerosis Relapses After Vaccination Against SARS-CoV2: A Series of Clinical Cases
Authors: Riccardo Nistri, Elena Barbuti, Virginia Rinaldi, Laura Tufano, Valeria Pozzilli, Antonio Ianniello, Fabiana Marinelli, Giovanna De Luca, Luca Prosperini, Valentina Tomassini, Carlo Pozzilli
Journal: Front Neurol (2021)
Keywords: covid-19 vaccine, mri activity, sars-cov2 infection, adverse event, lesions, multiple sclerosis relapse
MeSH terms: Case Reports

Objective: To describe a temporal association between COVID-19 vaccine administration and multiple sclerosis (MS) relapses. Methods: This case series study was collected in four MS Centres in Central Italy, using data from 16 MS patients who received COVID-19 vaccination and presented both clinically and radiologically confirmed relapses between March and June 2021. We collected patients' relevant medical history, including demographics, MS clinical course, disease-modifying treatment (DMT) received (if applicable), and data from MRI scans obtained after the COVID-19 vaccination. Results: Three out of 16 patients received a diagnosis of MS with a first episode occurring after COVID-19 vaccination; 13 had already a diagnosis of MS and, among them, 9 were on treatment with DMTs. Ten patients received BNT162b2/Pfizer-BioNTech, 2 patients mRNA-1273/Moderna, and 4 patients ChAdOx1 nCoV-19/AstraZeneca. All MS relapses occurred from 3 days to 3 weeks after receiving the first dose of the COVID-19 vaccination or the booster. All patients had evidence of radiological activity on MRI. Discussion: Clinical and radiological findings in these cohort of MS patients confirmed disease re/activation and suggested a temporal association between disease activity and COVID-19 vaccination. The nature of this temporal association, whether causative or incidental, remains to be established.
Case Report: The Emerging Role of Ring Chromosome 22 in Phelan-McDermid Syndrome With Atypical Teratoid/Rhabdoid Tumor: The First Child Treated With Growth Hormone
Authors: Marco Crocco, Marta Panciroli, Claudia Milanaccio, Cristina Morerio, Antonio Verrico, Maria Luisa Garrè, Natascia Di Iorgi, Valeria Capra
Journal: Front Neurol (2021)
Keywords: ini1, phelan mcdermid syndrome (phmds), smarcb1, atypical teratoid/rhabdoid tumor, case report, growth hormone, midazolam, ring chromosome

Atypical teratoid/rhabdoid tumors (AT/RTs) in the rhabdoid tumor predisposition syndromes are most often caused by germline mutations of the SMARCB1 gene located in chromosome 22q11.2. Although rarely, it can also result from the constitutional ring chromosome 22 (r22): during mitosis the ring chromosome may lead to an increased rate of somatic mutations, resulting in rhabdoid tumor predispositions when the tumor-suppressor gene SMARCB1 is involved. Individuals with r22 may present similar features as those with Phelan-McDermid syndrome (PMDS) due to 22q13.3 deletion, including the SHANK3 gene. Despite several reports on AT/RT in children with r22 and/or PMDS have been published, the role of constitutional r22 as new oncogenic mechanism for AT/RT is still under investigation. There is not a lot of data available on therapeutic and prognostic implications of r22 in AT/RT and PMDS. Herein, we present the first case of a child with constitutional r22, PMDS and AT/RT of the brain, who is a long term survivor and is been treated with growth hormone. We also describe an unexpected adverse reaction to midazolam.
Tongue necrosis as an initial manifestation of giant cell arteritis: case report and review of the literature
Authors: Jose R Zaragoza, Natalia Vernon, Gisoo Ghaffari
Journal: Case Rep Rheumatol (2015)

Giant cell arteritis (GCA) is a systemic vasculitis of medium and large arteries that mainly affects the external carotid artery. It is a diagnosis of the elderly that typically presents as low-grade fever, temporal tenderness, claudication of the jaw, and in some patients vision loss. In cases where GCA presents with atypical manifestations, the diagnosis may be more difficult, causing a delay in both diagnosis and treatment and ultimately leading to irreversible complications. In this paper, we present an atypical presentation of GCA with symptoms of neck swelling and lingual pain in an elderly female. These symptoms progressed to bilateral necrosis and eventual dislodgement of the tongue. Lingual necrosis is a severe potential complication in GCA. In patients presenting with lingual swelling, pain, and discoloration, GCA should be suspected and prompt therapy should be initiated to avoid irreversible complications.
Bleeding jejunal diverticulosis in a patient with myasthenia gravis
Authors: I Zuber-Jerger, E Endlicher, F Kullmann
Journal: Diagn Ther Endosc (2008)
MeSH terms: Case Reports

A seventy-year-old male presented with severe myasthenia gravis and an episode of obscure bleeding. There was a history of gastric ulcer leading to Billroth II surgery twenty-five years ago. Upper endoscopy revealed no pathology. Colonoscopy showed a few solitary diverticula and traces of old blood in the terminal ileum. Capsule endoscopy pictured red smear in the upper jejunum. Diverticula were seen as well. Suspecting bleeding jejunal diverticulosis double balloon enteroscopy was performed. The complete jejunal ascending loop and about 100 cm of the jejunum through the descending jejunal loop could be inspected. Large diverticula with fecoliths were found in both loops. Bleeding had ceased. The patient was discharged to neurology for optimizing therapy for myasthenia gravis.
Lambert-Eaton Myasthenic Syndrome Secondary to Nivolumab and Ipilimumab in a Patient with Small-Cell Lung Cancer
Authors: Kavita Agrawal, Nirav Agrawal
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

We present a case of a 59-year-old male with a confirmed diagnosis of small-cell lung cancer (SCLC). He had progressive disease even after four cycles of cisplatin and etoposide chemotherapy and 21 cycles of radiation. He was therefore started on immunotherapy with nivolumab every 2 weeks and ipilimumab every 6 weeks. After 4 months of starting immunotherapy, he reported extreme fatigue, muscular weakness, and poor appetite. He was diagnosed with hypothyroidism, primary adrenal insufficiency, and Lambert-Eaton Myasthenic Syndrome (LEMS). LEMS can be both a paraneoplastic syndrome of SCLC and an adverse effect of immunotherapy. Currently, there is no diagnostic test available to determine if a case of LEMS is a paraneoplastic syndrome or immunotherapy-related adverse effect. In our patient, we felt that LEMS was an immunotherapy-related adverse effect rather being a paraneoplastic syndrome. Our determination was based on the time of onset of muscular weakness, presence of other immunotherapy-mediated adverse events, and the appearance of symptoms in spite of SCLC that had been stabilized on immunotherapy. Accordingly, immunotherapy was stopped and a brief tapering course of steroids was initiated. Our patient's muscular weakness from LEMS responded well. His clinical improvement persisted even with radiologic progression of disease after cessation of immunotherapy.
Acute Severe Hyponatremia following Hysteroscopic Procedure in a Young Patient: A Case Report and Review of the Literature
Authors: Anwar S Atieh, Omar K Abu Shamma, Mohammad O Abdelhafez, Muath A Baniowda, Samia Abed, Basheer H Babaa, Abdurrahman Hamadah, Kamel A Gharaibeh
Journal: Case Rep Nephrol (2021)
MeSH terms: Case Reports

Background:
Hysteroscopic surgery is a minimally invasive procedure used to diagnose and treat intrauterine pathologies. It requires distension of the uterine cavity for the adequate visualization of the operative field. Glycine (1.5%) is one of the most commonly used solutions because it is nonconductive and also has good optical properties. However, acute hyponatremia is a critical complication that can develop after the absorption of a sufficient amount of the irrigation medium. Case Presentation. We report a case of a 43-year-old female patient who developed acute symptomatic hyponatremia (104 mEq/L) and pulmonary edema secondary to hysteroscopic resection of leiomyoma and hastily approached with rapid sodium correction measures.
Conclusion:
Multiple strategies can be taken to reduce the risk of fluid absorption and subsequent hyponatremia. Moreover, attention should be paid to the treatment approach for patients with acute hyponatremia following hysteroscopic procedures; rapid correction of acute hyponatremia for such patients might be safe, although there is no consensus in the literature, and further trials are needed.
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features
Authors: Valentina Cirello, Valentina Giorgini, Chiara Castronovo, Susan Marelli, Ester Mainini, Alessandra Sironi, Maria Paola Recalcati, Marco Pessina, Daniela Giardino, Lidia Larizza, Luca Persani, Palma Finelli, Silvia Russo, Laura Fugazzola
Journal: Front Genet (2018)
Keywords: slc26a4, pendred syndrome, post-natal growth retardation, silver-russell syndrome, uniparental disomy
MeSH terms: Case Reports

Pendred syndrome (PS) is an autosomal recessive disorder due to mutations in the SLC26A4 gene (chr7q22. 3) and characterized by sensorineural hearing loss and variable thyroid phenotype. Silver-Russell syndrome (SRS) is a heterogeneous imprinting disorder including severe intrauterine and postnatal growth retardation, and dysmorphic features. Maternal uniparental disomy of either the whole chromosome 7 (upd(7)mat) or 7q (upd(7q)mat) is one of the multiple mechanisms impacting the expression of imprinted genes in SRS, and is associated with milder clinical features. Here, we report genetic and clinical characterization of a female child with PS, postnatal growth retardation, and minor dysmorphic features. A gross homozygous deletion of SLC26A4 exons 17-20 was suspected by Sanger sequencing and then confirmed by array-CGH. Moreover, an insertion of about 1 kb of the CCDC126 gene (7p15.3), which does not appear to be clinically relevant, was detected. The possible occurrence of a balanced rearrangement between 7p and 7q was excluded. The absence of the deletion in the father led to the investigation of upd, and microsatellite segregation analysis revealed a segmental 7q (upd(7q)mat), leading to SLC26A4 homozygosity and responsible for both PS and SRS-like traits. The proband matched 3 out of 6 major SRS criteria. In conclusion, this is the first report of uniparental isodisomy encompassing almost the whole long arm of chromosome 7 resulting in PS and SRS-like features. Whereas, the inner ear phenotype of PS is typical, the clinical features suggestive of SRS might have been overlooked.
Raynaud's phenomenon in a drummer player: Microvascular disorder and nailfold video capillaroscopic findings
Authors: Maria Maddalena Sirufo, Alessandra Catalogna, Francesca De Pietro, Lia Ginaldi, Massimo De Martinis
Journal: EXCLI J (2021)
Keywords: raynaud's phenomenon, arts medicine, drummer, hand-arm vibration syndrome, microcirculation, musician, nailfold video capillaroscopy, occupational disease
MeSH terms: Case Reports

Drummers are usually exposed to intensive physical stress and occupational diseases that have been only partially investigated. The majority of studies focus on musculoskeletal problems while microvascular abnormalities have been less considered. We report on a case of a 19-year-old drummer affected by Raynaud's phenomenon. The patient underwent nailfold video capillaroscopy that showed a non-specific pattern, with granular flow, dyshomogeneous capillary morphology, increased efferent/afferent loop ratio and many enlarged capillaries. The continuous exposition to vibration in drummers could determinate microvascular abnormalities with related cold induced disorders and Raynaud's phenomenon. Nailfold video capillaroscopy is a tool that allows to detect the alterations of the microcirculation and to carry out the follow-up of the patients with low cost, non-invasiveness, repeatability, high sensibility and specificity.
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis
Authors: Xiao-Tun Ren, Xiao-Hui Wang, Chang-Hong Ding, Xiang Shen, Hao Zhang, Wei-Hua Zhang, Jiu-Wei Li, Chang-Hong Ren, Fang Fang
Journal: Front Genet (2019)
Keywords: cln2, cln5, cln6, cln7, neuronal ceroid lipofuscinosis (ncl), next-generation sequencing (ngs), late-infantile
MeSH terms: Case Reports

Neuronal Ceroid Lipofuscinoses (NCLs) are progressive degenerative diseases mainly affect brain and retina. They are characterized by accumulation of autofluorescent storage material, mitochondrial ATPase subunit C, or sphingolipid activator proteins A and D in lysosomes of most cells. Heterogenous storage material in NCLs is not completely disease-specific. Most of CLN proteins and their natural substrates are not well-characterized. Studies have suggested variants of Late-Infantile NCLs (LINCLs) include the major type CLN2 and minor types CLN5, CLN6, CLN7, and CLN8. Therefore, combination of clinical and molecular analysis has become a more effective diagnosis method. We studied 4 late-infantile NCL siblings characterized by seizures, ataxia as early symptoms, followed by progressive regression in intelligence and behavior, but mutations are located in different genes. Symptoms and progression of 4 types of LINCLs are compared. Pathology of LINCLs is also discussed. We performed Nest-Generation Sequencing on these phenotypically similar families. Three novel variants c.1551+1insTGAT in TPP1, c.244G>T in CLN6, c.554-5A>G in MFSD8 were identified. Potential outcome of the mutations in structure and function of proteins are studied. In addition, we observed some common and unique clinical features of Chinese LINCL patient as compared with those of Western patients, which greatly improved our understanding of the LINCLs.
Does Virtual Reality Feedback at Infra-Low Frequency Improve Centralized Pain With Comorbid Insomnia While Mitigating Risks for Sedative Use Disorder?: A Case Report
Authors: Nnamdi Orakpo, Chujun Yuan, Olanrewaju Olukitibi, Jeff Burdette, Kim Arrington
Journal: Front Hum Neurosci (2022)
Keywords: benzodiazepine, infra-low frequency brain training, insomnia, neurofeedback, pain, virtual reality
MeSH terms: Case Reports

This case report concerns a patient with clinically diagnosed moderate-severe insomnia secondary to chronic lower back pain and sciatica, previously treated with hydrocodone, naproxen, cyclobenzaprine and nightly diazepam. He underwent a trial of 20 sessions of virtual reality neurofeedback therapy (VR-NFB) at infra-low frequency, and by the end of 20 sessions achieved sustained analgesia and consequently, a complete resolution of his pain-related insomnia. Follow-up at 1 year confirmed his improvements were sustained, and he maintained his abstinence from sedatives, as observed on the Prescription Monitoring Program for controlled substances. This case highlights the importance of understanding chronic pain and its connection with restorative sleep: incorporating endogenous neuromodulation in behavioral sleep medicine helped to diminish the risk of benzodiazepine use disorder. This may be the first case of complete resolution of chronic pain with comorbid insomnia after treatment with VR-NFB at the infra-low frequency.
Management of Nonpuerperal Uterine Inversion Using a Combined Vaginal and Abdominal Approach
Authors: Ferid A Abubeker, Mulugeta Misgina, Ahmed Ebabu, Eyerusalem Fekade, Biruck Gashawbeza
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Introduction:
Nonpuerperal uterine inversion is an extremely rare clinical condition. As such, some cases will have to be managed without prior experience. Clinicians must have a high index of suspicion to make the diagnosis and a clear understanding of the principles of recommended surgical techniques. Here, we report a case of nonpuerperal uterine inversion managed using a combined vaginal and abdominal approach. Case Presentation. A 70-year-old postmenopausal woman presented with profuse vaginal bleeding and protruding mass per vagina. Examination showed a solitary globular mass attached to an inverted uterus. A clinical diagnosis of nonpuerperal uterine inversion was made. A vaginal approach was used to first remove the mass followed by an abdominal approach to reposition the uterus using the Haultain procedure. Subsequently, total abdominal hysterectomy with bilateral salpingo-oophorectomy was done without complication. Histologic examination showed myoma with adenomyosis.
Conclusion:
Advanced imaging techniques such as 3D power Doppler and MRI have signature signs to confirm the clinical diagnosis of uterine inversion. Short of these diagnostic modalities, however, carefully conducted clinical examination including examination under anesthesia, and pelvic ultrasonography can be valuable tools to reach at a diagnosis. A combined vaginal and abdominal surgical approach can facilitate repositioning and/or hysterectomy when there is a large protruding vaginal mass.
Valproate-Induced Encephalopathy Presenting at Therapeutic Blood Concentrations: A Case Report and Literature Review
Authors: Gautham Pavar, Nicole Xu, Kinan Sawar, Vichar Trivedi, Diane L Levine
Journal: Cureus (2023)
Keywords: acute hyperammonemic encephalopathy, cyp2c9, l-carnitine, seizure prophylaxis, urea cycle deficiency, valproate, valproic acid toxicity
MeSH terms: Case Reports

Patients presenting with hyperammonemic encephalopathy are likely to have hepatic encephalopathy. However, valproate (an anticonvulsant and mood stabilizer) can also cause hyperammonemic encephalopathy and belongs on the differential for patients taking it, especially if there are recent contributory medication changes. We present a case report of a 61-year-old woman with valproate-induced hyperammonemic encephalopathy but with an initial valproate level within the therapeutic range (50-100 mcg/dL). After withholding valproate and before additional treatment could be initiated, she became fully alert and oriented. We present a literature review exploring valproate toxicity and treatment. Our case shows that clinical suspicion for valproate-induced hyperammonemic encephalopathy is warranted even if the valproate level is within the therapeutic range.
Primary Angiitis of the Central Nervous System: From Psychiatry to Neurology
Authors: Joel Leonardi, Christian Saleh, Phillip Jaszczuk, Kristine A Blackham, Sabrina Zechel, Stefanie Wilmes, Margret Hund-Georgiadis
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

We present a case of a 54-year-old man with primary angiitis of the central nervous system (PACNS) who was initially admitted to a psychiatric clinic with a diagnosis of delirium. We discuss the difficulty in establishing the diagnosis of PACNS and provide the reader with some recommendations on how to promptly and correctly diagnose this disease in order to avoid potentially lethal outcomes.
Beyond cat scratch disease: a case report of bartonella infection mimicking vasculitic disorder
Authors: Amelia Spinella, Federica Lumetti, Gilda Sandri, Valentina Cestelli, Maria Teresa Mascia
Journal: Case Rep Infect Dis (2012)

Cat scratch disease (CSD) is a bacterial disease caused by Bartonella henselae and it is mainly characterized by self-limiting lymphadenopathy in the draining site of a cat scratch or bite. We report a patient with history of fever, swelling lymph nodes, vasculitic-like skin lesions, and positivity of Bartonella serology initially considered as expression of a disimmune disease.
Scrotal Swelling as a Complication of Hydrochlorothiazide Induced Acute Pancreatitis
Authors: Ivan Nikiforov, Qurat Mansoora, Hassan Al-Khalisy, Sarah Joseph, Pramil Cheriyath
Journal: Case Rep Gastrointest Med (2015)

Background. Scrotal swelling is a rare complication of acute pancreatitis with few reported cases in the literature. In this case report, we present a 59-year-old male with hydrochlorothiazide induced pancreatitis who developed scrotal swelling. Case Presentation. A 59-year-old male presented to the emergency department with sharp epigastric abdominal pain that radiated to the back and chest. On physical examination, he had abdominal tenderness and distention with hypoactive bowel sounds. Computed tomography (CT) scan of the abdomen showed acute pancreatitis. The patient's condition deteriorated and he was admitted to the intensive care unit (ICU). After he improved and was transferred out of the ICU, the patient developed swelling of the scrotum and penis. Ultrasound (US) of the scrotum showed large hydrocele bilaterally with no varicoceles or testicular masses. Good blood flow was observed for both testicles. The swelling diminished over the next eight days with the addition of Lasix and the patient was discharged home in stable condition. Conclusion. Scrotal swelling is a rare complication of acute pancreatitis. It usually resolves spontaneously with conservative medical management such as diuretics and elevation of the legs.
Peritonitis due to Moraxella Osloensis: An Emerging Pathogen
Authors: Sreedhar Adapa, Purva Gumaste, Venu Madhav Konala, Nikhil Agrawal, Amarinder Singh Garcha, Hemant Dhingra
Journal: Case Rep Nephrol (2018)
MeSH terms: Case Reports

Peritonitis is a very serious complication encountered in patients undergoing peritoneal dialysis and healthcare providers involved in the management should be very vigilant. Gram-positive organisms are the frequent cause of peritonitis compared to gram-negative organisms. There has been recognition of peritonitis caused by uncommon organisms because of improved microbiological detection techniques. We report a case of peritonitis caused by Moraxella osloensis (M. osloensis), which is an unusual cause of infections in humans. A 68-year-old male, who has been on peritoneal dialysis for 2 years, presented with abdominal pain and cloudy effluent. Peritoneal fluid analysis was consistent with peritonitis and peritoneal fluid culture grew gram-negative bacteria. M. osloensis was identified by 16 S PCR phenotypic and sequencing techniques. Patient responded well to the treatment, with intraperitoneal cephalosporin, and repeat peritoneal fluid culture yielded no growth. M. osloensis rarely causes infection in humans and responds well to treatment, as reported in literature.