OpenMed/multicare-articles huggingface dataset:
IgG4-Related Inflammatory Pseudotumor Involving the Clivus: A Case Report and Literature Review
Authors: Xiaohai Liu, Renzhi Wang, Mingchu Li, Ge Chen
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: igg4-related disease, igg4-related inflammatory pseudotumor, case report, clivus, endoscopic transsphenoidal approach
MeSH terms: Cranial Fossa, Posterior / pathology, Granuloma, Plasma Cell / diagnosis, Immunoglobulin G / immunology, Inflammation / pathology, Meningeal Neoplasms / diagnosis, Meningioma / diagnosis, Case Reports, Research Support, Non-U.S. Gov't, Review, Cranial Fossa, Posterior / immunology, Diagnosis, Differential, Granuloma, Plasma Cell / immunology, Granuloma, Plasma Cell / surgery, Humans, Inflammation / immunology, Male, Meningeal Neoplasms / immunology, Meningeal Neoplasms / surgery, Meningioma / immunology, Meningioma / surgery, Middle Aged, Prognosis, Immunoglobulin G

IgG4-related inflammatory pseudotumors are very uncommon and are characterized histologically by the presence of inflammatory swellings with increasing IgG4-positive plasma cells and lymphocytes infiltrating the tissues. As reports of intracranial IgG4-related pseudotumors are very rare, we report a case of an IgG4-related inflammatory pseudotumor involving the clivus mimicking meningioma. A 46-year-old male presented with intermittent headache for 2 years and a sudden onset of dysphagia and dysphonia of 7 days' duration along with lower limb weakness. Enhanced magnetic resonance imaging (MRI) of the skull base revealed an isointense signal on T1- and T2-weighted images from an enhanced mass located at the middle of the upper clivus region, for which a meningioma was highly suspected. Then, an endoscopic transsphenoidal approach was adopted and the lesion was partially resected, as the subdural extra-axial lesion was found to be very tough and firm, exhibiting fibrous scarring attaching to the brain stem and basal artery. After the surgery, brain stem and posterior cranial nerve decompression was achieved, and the patient's symptoms, such as dysphagia, dysphonia and lower limb weakness, improved. Pathological findings showed many IgG4-positive plasma cells and lymphocytes surrounded by collagen-rich fibers. The patient was sent to the rheumatology department for further glucocorticoids after the diagnosis of an IgG4-related inflammatory pseudotumor was made. This case highlights the importance of considering IgG4-related inflammatory pseudotumors as a differential diagnosis in patients with lesions involving the clivus presenting with a sudden onset of symptoms of dysphagia and dysphonia along with lower limb weakness when other more threatening causes have been excluded. IgG4-related inflammatory pseudotumors are etiologically enigmatic and unpredictable, and total resection might not be warranted. Glucocorticoids are usually the first line of treatment after diagnosis.
Case Report: Nuchal Bursitis Associated With Borrelia burgdorferi Infection in a Horse
Authors: Cassandra Guarino, Toby Pinn-Woodcock, David G Levine, Julia Miller, Amy L Johnson
Journal: Front Vet Sci (2021)
Keywords: antibody, equine, lyme disease, lyme multiplex assay, ospa, ospf, poll evil
MeSH terms: Case Reports

Cases of cranial nuchal bursitis associated with Borrelia burgdorferi infection have not been thoroughly described. Here, we describe the case of a 17-year-old mare that was presented for low head carriage, dull demeanor, and resistance to haltering. Imaging supported a diagnosis of nuchal bursitis, and bursoscopy with surgical debridement of the nuchal bursa was performed. B. burgdorferi was identified by molecular diagnostics in serial samples of the bursal fluid, with no other organisms identified. Serology revealed significant elevation in antibodies directed against OspA of B. burgdorferi, but not the typical infection markers, OspC and OspF. Intravenous ceftiofur was administered for 80 days, and the nuchal bursa was directly injected with ceftiofur. The mare recovered and was able to return to work with no recrudescence of clinical signs over the following year to date. Infection with B. burgdorferi should be considered as a differential in cases of septic nuchal bursitis.
Endoscopic Removal of an Uncommon Iatrogenic Foreign Body from the Maxillary Sinus: A Dental Burr
Authors: Nafil Arimbrathodi, Waqar Aslam, Abhishek Menon, Ali Ahmad Al Saadi
Journal: Case Rep Otolaryngol (2020)
MeSH terms: Case Reports

Instrument fracture during procedure is not uncommon for dental surgeons, especially in root canal surgeries, usually inside the root canals. In rare instances, high-speed rotary instruments can be fractured and can be dislodged in key anatomical areas of face. In our case report, a high-speed dental burr most probably penetrated the root and was seen in the left maxillary sinus during a likely routine dental procedure. The work-up and endoscopic surgical management of the case is described. Practitioners should be in great care during dental procedures and endodontic treatment to avoid unexpected complications by introducing foreign bodies into maxillary sinus. Any patient presenting with recurrent unilateral facial pain or unilateral sinus symptoms with/without previous history of sinusitis should raise the suspect of a foreign body in the paranasal sinus regardless of any previous history of dental procedure.
True Precocious Puberty Following Treatment of a Leydig Cell Tumor: Two Case Reports and Literature Review
Authors: Alberto Verrotti, Laura Penta, Letizia Zenzeri, Laura Lucchetti, Paolo Giovenali, Pierpaolo De Feo
Journal: Front Pediatr (2015)
Keywords: gnrh analogs, gnrh stimulation test, leydig cell tumor, precocious pseudopuberty, true precocious puberty
MeSH terms: Case Reports

Leydig cell testicular tumors are a rare cause of precocious pseudopuberty in boys. Surgery is the main therapy and shows good overall prognosis. The physical signs of precocious puberty are expected to disappear shortly after surgical removal of the mass. We report two children, 7.5 and 7.7 year-old boys, who underwent testis-sparing surgery for a Leydig cell testicular tumor causing precocious pseudopuberty. During follow-up, after an immediate clinical and laboratory regression, both boys presented signs of precocious puberty and ultimately developed central precocious puberty. They were successfully treated with gonadotropin-releasing hormone (GnRH) analogs. Only six other cases have been described regarding the development of central precocious puberty after successful treatment of a Leydig cell tumor causing precocious pseudopuberty. Gonadotropin-dependent precocious puberty should be considered in children treated for a Leydig cell tumor presenting persistent or recurrent physical signs of puberty activation. In such cases, therapy with GnRH analogs appears to be the most effective medical treatment.
Modification of the Intrastromal Ring Position according to Postimplant Visual and Refractive Failure: Report of Two Cases
Authors: Luis Izquierdo, Josefina A Mejías Smith, Jose R Lievano, Ramón Sarquis, Maria A Henriquez
Journal: Case Rep Ophthalmol Med (2019)
MeSH terms: Case Reports

Objective:
The following report presents the adaptation of an existing technique of intrastromal corneal ring (ICRS) implantation enabling repositioning of the ring position postoperatively to manage a refractive failure in two patients with keratoconus.
Methods:
In two cases, KeraRing and Ferrara nomograms had suggested different ring positions. To manage with the differences between the two nomograms, a longer corneal tunnel was created followed by the classic intervention to move the ring through the initial intrastromal corneal tunnel according to the topographic values. Once the first ring position has failed, the ring segment was repositioned along the longer corneal tunnel according to the postoperative outcome.
Results:
Significant improvement in both cases was observed in the best corrected visual acuity (BCVA), uncorrected visual acuity (UCVA), and root mean square (RMS) measured with Scheimpflug imaging (Pentacam; Oculus GmBH, Wetzlar, Germany). The participants were followed for one year.
Conclusion:
In patients with keratoconus which exhibit significant differences between KeraRing and Ferrara nomograms, a longer tunnel should be created to enable repositioning of the ring postoperatively if necessary, to avoid extracting the ring or changing it.
A Case Report of Purtscher-Like Retinopathy Secondary to Pneumocystis jirovecii Pneumonia in an Immunocompromised Patient
Authors: Alastair David Bezzina, Isaac Bertuello
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

To the best of our knowledge, we present the first case of a young adult male, on long-term immunosuppressive therapy following a live-donor kidney transplant, with Purtscher-like retinopathy (PLR) secondary to Pneumocystis jirovecii pneumonia (PCP). The patient had presented to a routine medical follow-up and complained of a few weeks' history of dyspnoea and tachycardia after minimal exertion followed by acute bilateral blurring of vision. Unfortunately, the patient did not respond to a trial of corticosteroid treatment and subsequently became severely visually impaired. This case report expands the aetiological spectrum behind PLR and helps portray the disease process which, in some cases, leads to severe ischaemic sequelae.
Two Sides of the Same Coin: A Case Report of First-Episode Catatonic Syndrome in a High-Functioning Autism Patient
Authors: Dimitri Hefter, Cristina E Topor, Peter Gass, Dusan Hirjak
Journal: Front Psychiatry (2019)
Keywords: acute psychiatry, autism, catatonia, coercive treatment, diagnostic challenge, schizophrenia
MeSH terms: Case Reports

Background: Catatonic phenomena such as stupor, mutism, stereotypy, echolalia, echopraxia, affective flattening, psychomotor deficits, and social withdrawal are characteristic symptoms of both schizophrenia and autism spectrum disorders (ASD), suggesting overlapping pathophysiological similarities such as altered glutamatergic and dopaminergic synaptic transmission and common genetic mutations. In daily clinical practice, ASD can be masked by manifest catatonic or psychotic symptoms and represent a diagnostic challenge, especially in patients with unknown or empty medical history. Unclear diagnosis is one of the main factors for delayed treatment. However, we are still missing diagnostic recommendations when dealing with ASD patients suffering from catatonic syndrome. Case presentation: A 31-year-old male patient without history of psychiatric disease presented with a severe catatonic syndrome and was admitted to our closed psychiatric ward. After the treatment with high-dose lorazepam and intramuscular olanzapine, catatonic symptoms largely remitted, but autistic traits persisted. Following a detailed anamnesis and a thorough neuropsychological testing, we diagnosed the patient with high-functioning autism and catatonic schizophrenia. The patient was discharged in a remitted state with long-acting injectable olanzapine. Conclusion: This case represents an example of diagnostic and therapeutic challenges of catatonic schizophrenia in high-functioning autism due to clinical and neurobiological overlaps of these conditions. We discuss clinical features together with pathophysiological concepts of both conditions. Furthermore, we tackle social and legal hurdles in Germany that naturally arise in these patients. Finally, we present diagnostic "red flags" that can be used to rationally select and conduct current recommended diagnostic assessments if there is a suspicion of ASD in patients with catatonic syndrome in order to provide them with the most appropriate treatment.
Atrial Myxoma: A Case Presentation and Review
Authors: Ronny Cohen, Gagandeep Singh, Derrick Mena, Christine A Garcia, Pablo Loarte, Brooks Mirrer
Journal: Cardiol Res (2012)
Keywords: atrial myxoma
MeSH terms: Case Reports

Myxomas are the most common primary cardiac tumors, most frequently found in the left atrium. We present a case of an atrial myxoma. An in-depth review of atrial myxoma is presented, examining the important clinical symptoms and diagnostic indicators. The treatment of atrial myxoma is then discussed, with an emphasis on current therapies. An extensive literature review has been performed to present a comprehensive review of the causes, pathophysiology of atrial myxoma.
Oxford-AstraZeneca Coronavirus Disease-2019 Vaccine-Induced Immune Thrombocytopenia on Day Two
Authors: Azhar Kareem Razzaq, Ameer Al-Jasim
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

Introduction:
Vaccines have been one of the most impactful human discoveries that have significantly changed life expectancy. Immune thrombocytopenic purpura (ITP) is an autoimmune disease characterized by platelet damage, life-threatening thrombocytopenia, and haemorrhage when the platelet count reaches below 20 × 109/mcL. Its pathogenesis involves viral mimicry or T-cell-induced immune destruction in antibody-negative cases. The clinical manifestations of thrombocytopenia vary according to the severity (level of platelets) and range from being asymptomatic to severe haemorrhage. ITP is treated with immunosuppression. Case Presentation. A 26-year-old Iraqi male laboratory analyst with an unremarkable medical history presented with severe thrombocytopenia 2 days after receiving the Oxford-AstraZeneca coronavirus disease-2019 vaccine. The patient was asymptomatic with unremarkable examination findings. However, his low platelet count was discovered accidentally, and the patient did not exhibit the resistance pattern of ITP and recovered successfully with regular immunosuppressant treatment.
Conclusion:
Patients with a history of thrombocytopenia can develop vaccine-induced thrombocytopenia earlier than the expected onset. Close monitoring, through regular complete blood counts, is highly recommended for patients with previous thrombocytopenia because the immune modulation process of the vaccine can worsen preexisting thrombocytopenia.
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration
Authors: Pamela Magini, Monica Poscente, Simona Ferrari, Manuela Vargiolu, Elena Bacchelli, Claudio Graziano, Anita Wischmeijer, Daniela Turchetti, Elisabetta Malaspina, Valentina Marchiani, Duccio Maria Cordelli, Emilio Franzoni, Giovanni Romeo, Marco Seri
Journal: Mol Cytogenet (2015)
Keywords: mecp2 duplication, macular degeneration, recombinant x chromosome, xq28 disomy
MeSH terms: Case Reports

Background:
Duplications of MECP2 gene in males cause a syndrome characterized by distinctive clinical features, including severe to profound mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity and recurrent infections. Patients with complex chromosome rearrangements, leading to Xq28 duplication, share most of the clinical features of individuals with tandem duplications, in particular neurologic problems, suggesting a major pathogenetic role of MECP2 overexpression.
Results:
We performed cytogenetic and molecular cytogenetic studies in a previously described family with affected males showing congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration. Microsatellite, FISH and array-CGH analyses identified a recombinant X chromosome with a deletion of the PAR1 region, encompassing SHOX, replaced by a duplicated segment of the Xq28 terminal portion, including MECP2.
Conclusions:
Our report describes the identification of the actual genetic cause underlying a severe syndrome that previous preliminary analyses erroneously associated to a terminal Xp22.33 region. In the present family as well as in previously reported patients with similar rearrangements, the observed neurologic phenotype is ascribable to MECP2 duplication, with an undefined contribution of the other involved genes. Maculopathy, presented by affected males reported here, could be a novel clinical feature associated to Xq28 disomy due to recombinant X chromosomes, but at present the underlying pathogenetic mechanism is unknown and this potential clinical correlation should be confirmed through the collection of additional patients.
Case Report: Molecular and microenvironment change upon midostaurin treatment in mast cell leukemia at single-cell level
Authors: Meng-Ke Liu, Feng Liu, Yu-Ting Dai, Xiang-Qin Weng, Li-Li Cheng, Li-Quan Fan, Han Liu, Lu Jiang, Xiao-Jian Sun, Hai Fang, Li Wang, Wei-Li Zhao
Journal: Front Immunol (2023)
Keywords: mast cell leukemia, midostaurin, molecular changes, single-cell rna sequencing, tumor micoenvironment
MeSH terms: Leukemia, Mast-Cell / drug therapy, Leukemia, Mast-Cell / genetics, Case Reports, Research Support, Non-U.S. Gov't, Combined Modality Therapy, Humans, Male, Mast Cells, Middle Aged, Staurosporine / therapeutic use, Tumor Microenvironment, midostaurin, Staurosporine

Mast cell leukemia is a rare and aggressive disease, predominantly with KIT D816V mutation. With poor response to conventional poly-chemotherapy, mast cell leukemia responded to the midostaurin treatment with a 50% overall response rate (ORR), but complete remission rate is approximately 0%. Therefore, the potential mechanisms of midostaurin resistance and the exact impacts of midostaurin on both gene expression profile and mast cell leukemia microenvironment in vivo are essential for design tailored combination therapy targeting both the tumor cells and the tumor microenvironment. Here we report a 59-year-old male mast cell leukemia patient with KIT F522C mutation treated with midostaurin. Single-cell sequencing of peripheral blood and whole exome sequencing (WES) of bone marrow were performed before and 10 months after midostaurin treatment. In accordance with the clinical response, compared to the pretreatment aberration, the decline of mast cells and increase of T-, NK, B-cells in peripheral blood, and the decrease of the KIT F522C mutation burden in bone marrow were observed. Meanwhile, the emergence of RUNX1 mutation, upregulations of genes expression (RPS27A, RPS6, UBA52, RACK1) on tumor cells, and increased frequencies of T and NK cells with TIGIT, CTLA4, and LAG3 expression were observed after midostaurin treatment, predicting the disease progression of this patient. As far as we know, this is the first case reporting the clinical, immunological, and molecular changes in mast cell leukemia patients before and after midostaurin treatment, illustrating the in vivo mechanisms of midostaurin resistance in mast cell leukemia, providing important clues to develop a sequential option to circumvent tumor progression after targeting oncogene addiction and prolong patients' survival.
Tricuspid Valve Endocarditis due to Streptococcus bovis in a Patient with Ventricular Septal Defect: A Rare Manifestation-Case Report and Review of the Literature
Authors: J Pushpakumara, G Mudiyanse, A Jayawardana, J Siriwardana, N L A Shyamali, J Indrakumar
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Streptococcus bovis endocarditis has 18%-62% association with colonic neoplasms with multivalvular involvement and affects mainly elderly males leading to severe cardiac dysfunction, septic embolization, and neurological complications. The aortic valve is the commonest valve to be affected followed by aortic and mitral valves together. However, involvement of tricuspid valve is extremely rare. There are no reported cases of Streptococcus bovis endocarditis affecting the tricuspid valve in the presence of ventricular septal defect with left to right shunt. We report the case of a 25-year-old female with ventricular septal defect who was diagnosed to have tricuspid valve endocarditis caused by Streptococcus bovis. Her detailed colonoscopy, upper gastrointestinal endoscopy, liver biochemistry, and ultrasound scan of the abdomen were normal. She made a very good recovery with six weeks of intravenous antibiotics. This is the first case of tricuspid valve endocarditis caused by Streptococcus bovis in association with ventricular septal defect without any colonic lesions.
Granulomatous hepatitis due to Bartonella henselae infection in an immunocompetent patient
Authors: Thomas R VanderHeyden, Sherri L Yong, Edward B Breitschwerdt, Ricardo G Maggi, Amanda R Mihalik, Jorge P Parada, Claus J Fimmel
Journal: BMC Infect Dis (2012)
MeSH terms: Bartonella Infections / diagnosis, Bartonella henselae / isolation & purification, Granuloma / pathology, Hepatitis / diagnosis, Liver / pathology, Case Reports, Adult, Bartonella Infections / microbiology, Bartonella Infections / pathology, Bartonella Infections / surgery, Blood / microbiology, Female, Granuloma / microbiology, Hepatitis / microbiology, Hepatitis / pathology, Hepatitis / surgery, Histocytochemistry, Humans, Liver / microbiology, Microscopy, Polymerase Chain Reaction, Radiography, Abdominal, Tomography, X-Ray Computed

Background:
Bartonella henselae (B. henselae) is considered a rare cause of granulomatous hepatitis. Due to the fastidious growth characteristics of the bacteria, the limited sensitivity of histopathological stains, and the non-specific histological findings on liver biopsy, the diagnosis of hepatic bartonellosis can be difficult to establish. Furthermore, the optimal treatment of established hepatic bartonellosis remains controversial.
Case presentation:
We present a case of hepatic bartonellosis in an immunocompetent woman who presented with right upper quadrant pain and a five cm right hepatic lobe mass on CT scan. The patient underwent a right hepatic lobectomy. Surgical pathology revealed florid necrotizing granulomatous hepatitis, favoring an infectious etiology. Despite extensive histological and serological evaluation a definitive diagnosis was not established initially. Thirteen months after initial presentation, hepatic bartonellosis was diagnosed by PCR studies from surgically excised liver tissue. Interestingly, the hepatic granulomas persisted and Bartonella henselae was isolated from the patient's enriched blood culture after several courses of antibiotic therapy.
Conclusion:
The diagnosis of hepatic bartonellosis is exceedingly difficult to establish and requires a high degree of clinical suspicion. Recently developed, PCR-based approaches may be required in select patients to make the diagnosis. The optimal antimicrobial therapy for hepatic bartonellosis has not been established, and close follow-up is needed to ensure successful eradication of the infection.