OpenMed/multicare-articles huggingface dataset:
Fatal Mycotic Aneurysm of the Basilar Artery Caused by Aspergillus fumigatus in a Patient with Pituitary Adenoma and Meningitis
Authors: Martin Winterholler, Roland Coras, Walter Geißdörfer, Rudolf Rammensee, Philipp Gölitz, Christian Bogdan, Roland Lang
Journal: Front Med (Lausanne) (2017)
Keywords: pcr aspergillosis, fungal infection, galactomannan antigen, meningitis, β-d-glucan antigen
MeSH terms: Case Reports

Fungal infections of the central nervous system (CNS) frequently occur in immunosuppressed patients. Here, we describe the case of an immunocompetent 64-year-old man who presented with diplopia, right-sided hemiparesis, and a mild headache after cleaning and replacing nesting boxes of wild birds during the preceding months. Lumbar puncture revealed pleocytosis, elevated protein, and lactate levels in the cerebrospinal fluid (CSF). Initial imaging showed ischemia in the left thalamus and an enlargement of the sellar region. Antibiotic treatment and corticosteroids led to an initial improvement but was followed by rapid deterioration. Antibiotic treatment was modified and antifungal therapy was added. Eighteen days after admission, the patient died from a subarachnoid hemorrhage resulting from the rupture of a fusiform aneurysm of the basilar artery. Microbiological culture of CSF was negative, but a positive galactomannan assay suggested fungal infection which was corroborated by detection of Aspergillus fumigatus DNA in pan-fungal PCR and sequencing. The presence of septated hyphae in the wall of the basilar artery confirmed the diagnosis of a mycotic aneurysm caused by hyphomycetal infection. In addition, brain autopsy revealed the presence of an invasive adrenocorticotrophic hormone-producing pituitary adenoma with arrosion of the sellar bone. This process and its invasiveness likely facilitated the spread of the fungal pathogen from the sphenoid sinus to the dura mater and finally led to cerebral angioinvasion. Our case demonstrates the challenge to timely diagnose and effectively treat aspergillosis as a cause of CNS infection also in apparently immunocompetent patients. The potential of assays detecting fungal antigens and of PCR to facilitate a timely diagnosis is discussed.
Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome
Authors: Diana Marcela Vasquez-Forero, Barbara Masotto, Rosario Ferrer-Avargues, Christian Martin Moya, Harry Pachajoa
Journal: Front Genet (2023)
Keywords: colombia, son, zttk syndrome, zhu–tokita–takenouchi–kim syndrome, rare disease
MeSH terms: Case Reports

Zhu-Tokita-Takenouchi-Kim syndrome is a multisystem disorder resulting from haploinsufficiency in the SON gene, which is characterized by developmental delay/intellectual disability, seizures, facial dysmorphism, short stature, and congenital malformations, primarily in the central nervous system, along with ophthalmic, dental, pulmonary, cardiologic, renal, gastrointestinal, and musculoskeletal anomalies. In this study, we describe the first Colombian patient with ZTT harboring a novel mutation that has not been previously reported and review the clinical and molecular features of previously reported patients in the literature.
Primary breast peripheral T-cell lymphoma not otherwise specified: report of a case
Authors: Daisuke Muroya, Uhi Toh, Nobutaka Iwakuma, Shino Nakagawa, Mai Mishima, Ryuji Takahashi, Miki Takenaka, Kazuo Shirouzu, Yoshito Agaki
Journal: Surg Today (2015)
MeSH terms: Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Breast Neoplasms / diagnosis, Breast Neoplasms / drug therapy, Lymphoma, T-Cell, Peripheral / diagnosis, Lymphoma, T-Cell, Peripheral / drug therapy, Case Reports, Aged, Antigens, CD / analysis, Antineoplastic Combined Chemotherapy Protocols / administration & dosage, Biomarkers, Tumor / analysis, Biopsy, Fine-Needle, Breast Neoplasms / pathology, Cyclophosphamide / administration & dosage, Diagnostic Imaging, Doxorubicin / administration & dosage, Fatal Outcome, Female, Humans, Immunohistochemistry, Lymphoma, T-Cell, Peripheral / pathology, Prednisolone / administration & dosage, Remission Induction, Vincristine / administration & dosage, Antigens, CD, Biomarkers, Tumor, Vincristine, Doxorubicin, Cyclophosphamide, Prednisolone, VAP-cyclo protocol

Malignant lymphomas of the breast are rare and primary breast lymphoma comprises <0.5 % of breast malignancies, within which T-cell lymphomas are an even rarer subset. We report a case of primary breast peripheral T-cell lymphoma not otherwise specified (PTCL-NOS). Histology of the biopsied specimen revealed CD2(+), CD3(+), CD4(+), CD5(-), CD7(+), CD8(-), CD20(-), CD25(-), CD30(+), CD56(-), bcl-2(-), EBV-ISH(-), TIA-I(-), and ATLA negative. The patient was treated with six cycles of the CHOP regimen and died 17 months after the diagnosis was made, despite complete remission after conventional chemotherapy. To our knowledge, only 18 cases of primary peripheral T-cell lymphoma of the breast and just one previous case of primary PTCL-NOS of the breast have been reported in Japan.
Acute abdomen and perforated bowel with a rare pathology: nonfamilial visceral myopathy
Authors: Jakob Burcharth, Caroline Olsen, Jacob Rosenberg
Journal: Case Rep Surg (2011)
MeSH terms: Case Reports

Visceral myopathy is a rare chronic disease affecting the peristalsis of the bowel causing intermittent pseudoobstruction. We report an atypical case of an eighty-nine-year-old woman with no prior history of abdominal illness who was admitted to our hospital with 2 days of increasing nausea, abdominal distension, and abdominal pain. On arrival at the hospital, she was critically ill. Abdominal X-ray showed distended loops of the colon and liquid levels resembling colonic obstruction. A subsequent abdominal CT scan confirmed the colonic obstruction. A suspicion of sigmoid volvulus was raised, that is why a barium enema was performed but no lower colonic obstruction could be confirmed. Acute laparotomy showed perforated cecum without intestinal obstruction. Postoperatively, the patient became septic which was fatal for the patient. Pathology gave the diagnosis visceral myopathy. It is very difficult to make the diagnosis clinically and radiologically since visceral myopathy mimics other more common gastrointestinal diseases. It is important to consider visceral myopathy as a possible diagnosis in cases with recurrent episodes of abdominal pain, vomiting, and abdominal distension, but without actual intestinal obstruction.
Idarucizumab in High-risk Thoracic Surgery
Authors: R López-Vilella, J Sanz-Sánchez, I Sánchez-Lázaro, E Marques-Sule, J Rueda-Soriano, L Almenar-Bonet
Journal: Int J Organ Transplant Med (2018)
Keywords: anticoagulants, heart-lung transplantation, idarucizumab
MeSH terms: Case Reports

Direct oral anticoagulants have suggested a favorable profile compared with vitamin K antagonists. However, the lack of treatment to reverse the effect of direct oral anticoagulants has limited its use in some patients who require rapid reversal of anticoagulation, as those included in the transplant waiting list. Idarucizumab is a recently approved drug to reverse the anticoagulant effect of dabigatran. However, the clinical experience when using this drug is scarce. Herein, we present a clinical case on anticoagulation reversal with idarucizumab to perform heart and lung transplantation in a patient with Eisenmenger syndrome.
ECG Changes in a Patient Presenting With Chest Pain Secondary to Left-Sided Primary Spontaneous Pneumothorax: A Case Report-Based Literature Review
Authors: Zahid Khan
Journal: Cureus (2023)
Keywords: chest pain in the young, chest tube, chest xray cx-ray, electrocardiogram (ecg/ekg), emergency chest drain, primary pneumothorax, right axis deviation, shortness of breath (sob)
MeSH terms: Case Reports

Pneumothorax is the accumulation of air in the extrapulmonary space between the pleura and the chest wall. Spontaneous pneumothorax can present with various electrocardiographic (ECG) findings including axis deviation, bundle branch block and T waves inversion. A 23-year-old young male patient of slim build presented to the accident and emergency department with sudden-onset chest pain and shortness of breath. He had pleuritic chest pain, worse on breathing. Electrocardiogram showed right axis deviation, diminished or low-amplitude R waves and small-amplitude QRS complexes in the precordial leads. Vital signs were stable and physical examination showed reduced air entry on the left side. Chest radiography showed significant left-sided pneumothorax and the patient had an emergency chest drain inserted. ECG changes resolved with the resolution of pneumothorax. He was discharged home after four days of hospital admission and complete resolution of pneumothorax.
Phenytoin toxicity due to fluoropyrimidines (5FU/capecitabine): three case reports
Authors: K Brickell, D Porter, P Thompson
Journal: Br J Cancer (2003)
MeSH terms: Anticonvulsants / adverse effects, Antimetabolites, Antineoplastic / adverse effects, Deoxycytidine / adverse effects, Deoxycytidine / analogs & derivatives, Epilepsy, Generalized / drug therapy, Fluorouracil / adverse effects, Phenytoin / adverse effects, Case Reports, Adenocarcinoma / drug therapy, Administration, Oral, Aged, Anticonvulsants / therapeutic use, Antimetabolites, Antineoplastic / therapeutic use, Breast Neoplasms / drug therapy, Capecitabine, Colonic Neoplasms / drug therapy, Deoxycytidine / therapeutic use, Drug Interactions, Epilepsy, Generalized / pathology, Female, Fluorouracil / therapeutic use, Humans, Male, Middle Aged, Phenytoin / therapeutic use, Anticonvulsants, Antimetabolites, Antineoplastic, Deoxycytidine, Phenytoin, Capecitabine, Fluorouracil

Interactions between phenytoin and the fluoropyrimidine derivatives, 5 fluorouracil (5FU) and capecitabine, are not commonly documented or widely recognised. As more people with significant medical comorbidities are now being considered for chemotherapy, it is increasingly likely that people receiving phenytoin will be prescribed treatment with fluoropyrimidines. We present two cases of clinical phenytoin toxicity occurring after starting treatment with 5-fluorouracil/folinic acid (5FU/FA) and a third who developed clinical phenytoin toxicity after starting capecitabine (an orally administered prodrug of fluorouracil).
Non-Hodgkin's Lymphoma Presenting as a Huge Ocular Adnexal and Forehead Mass
Authors: Afekhide Ernest Omoti, Caroline Edijana Omoti, Osesogie Usualele Ogbeide
Journal: J Ophthalmic Vis Res (2011)
Keywords: forehead mass, lid mass, non-hodgkin’s lymphoma
MeSH terms: Case Reports

Purpose:
To report a case of non-Hodgkin's lymphoma (NHL) presenting as an ocular adnexal and forehead mass.
Case report:
An elderly male patient was referred by a neurosurgeon to the eye clinic with a six-month history of a massive tumor measuring 12×16×8 cm involving the right side of the forehead, eyebrow and upper eyelid. Neurological examination had been normal and computed tomography revealed no intracranial extension. The patient was referred to an otorhinolaryngologist who performed an incisional biopsy which revealed the mass to be NHL. He received chemotherapy with CHOP regimen (cyclophosphamide, adriamycin, vincristine and prednisolone) resulting in reduction in lesion size leaving a phthysical eyeball and a ptotic lid.
Conclusion:
Non-Hodgkin's lymphoma may occur in almost any part of the body and should be considered in the differential diagnosis of extralymphoid tumors.
Urinary Ascites following Mini Lap Tubectomy: A Rare Occurence
Authors: Pushpa Dahiya, Anshu Paul, Satish Dalal
Journal: ISRN Urol (2011)
MeSH terms: Case Reports

Iatrogenic bladder injury is a known complication of laparoscopic and gynecological surgeries with an incidence of 1.5 per 1000 cases. Urinary ascites is a result of undiagnosed iatrogenic bladder injury during pelvic surgeries. We report a rare case of urinary ascites following mini lap tubectomy on the eighth postoperative day. After the diagnosis was made, conservative management was done for the patient, to which she successfully responded.
Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review
Authors: Yanqing Zhang, Haozheng Zhang, Wei Wu, Dong Wang, Yuqiang Lv, Dongmei Zhao, Lingxiao Wang, Yi Liu, Kaihui Zhang
Journal: Front Genet (2023)
Keywords: setd2, developmental delay, gene mutation, luscan-lumish syndrome, macrocephaly, tall stature

Introduction: Luscan-Lumish syndrome (LLS) is currently recognized as a rarely-observed condition featured with overgrowth, macrocephaly, obesity, type I Chiari malformation, and linguistic retardation. So far, there have been only a few LLS cases registered worldwide, but with none of them reported from China. To acquire a deeper understanding on the clinical and genetic features of this disease, a Chinese boy with LLS caused by a heterozygous variant in SETD2 gene was investigated in the present study. Methods: The patient was clinically examined and the medical history of his family was collected. Genetic testing was performed to determine the genetic etiology. Results: The proband was a boy aged 5-year-7-month-old, who was referred to our hospital due to "being a slow learner in kindergarten". The child had a history of delayed motor and language development in comparison to his peers. After admission, physical examination revealed tall stature and macrocephaly as the major manifestation, in addition to a relatively lower rating in intelligence assessment as well as abnormal MRI images showing a slightly shorter corpus callosum accompanied by a mildly thinner corpus callosum body. Whole exome sequencing (WES) revealed a heterozygous c.2514_2516delTAG (p.Ser838del) variant in SETD2 gene, which was subsequently identified as a novel de novo variant. According to the standardized genetic variant classification published by the American College of Medical Genetics and Genomics (ACMG), the variant, with a pathogenicity analysis result indicating PS2 + PM2_Supporting + PM4, was determined to be likely pathogenic. Through literature review, the clinical phenotypes of the 15 LLS cases were summarized, including 8 cases of overgrowth (53%), 13 cases of macrocephaly (87%), 11 cases of developmental delay (73%), 8 cases of autism (53%), and 7 cases of special facial features (47%). Besides, abnormal craniocerebral MRI findings were noticed in 7 cases. Despite that the mutation sites of the 15 patients varied from case to case, they showed a uniformly distributed pattern throughout the whole SETD2 gene, including 5 missense mutations, 5 frameshift mutations and 5 non-sense mutations. Conclusion: LLS, not having been recognized till recent years, is identified as an autosomal dominant syndrome triggered by SETD2 gene mutation. As the first report of LLS in China, the case in our study was proved to be associated with a unique type of SETD2 gene mutation that has never been reported previously, which is believed to enrich the mutation spectrum of SETD2 gene and also, deepening the clinicians' understanding on the disease.
Giant Posttraumatic Angiolipoma of the Forearm: A Case Report and Review of the Literature
Authors: Athanasios Fotiadis, Petros Ioannidis, Ioannis Skandalos, Stergios Papastergiou, Aristeidis Vrettakos, Theodoros Tzigkalidis, Themistoklis Vampertzis
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Angiolipoma is a type of lipoma, a benign soft tissue tumor. It is distinguished by the excessive degree of vascular proliferation and the presence of mature adipocytes. It occurs commonly on the trunk and extremities. Angiolipomas larger than 4 cm are classified as "giant," and due to their size, histological evaluation is necessary to exclude malignancy. We report a case of a male patient who suffered from a giant noninfiltrating intramuscular angiolipoma which formed after venipuncture in the antecubital fossa. Clinical examination showed a palpable painless soft mass. Computed tomography (CT) and magnetic resonance imaging (MRI) demonstrated a giant angiolipoma on the right forearm. Surgical removal of the mass was performed, and the biopsy was negative for malignancy. To the best of our knowledge, this is the first report in the literature of posttraumatic intramuscular angiolipoma. Physicians and orthopedic/general surgeons should be aware of the possibility of soft tissue masses in a posttrauma situation.
A Loading Dose of IV Salbutamol in an Adolescent with Severe Acute Asthma and Cardiac Arrest
Authors: Shelley A Boeschoten, Ruben S van der Crabben, Annemie L M Boehmer, Matthijs de Hoog, Corinne M P Buysse
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Severe acute asthma (SAA) can lead to respiratory failure and can be fatal. For rational use of intravenous (IV) bronchodilators, evidence regarding the pharmacokinetics and pharmacodynamics is lacking in children. The use of a loading dose IV salbutamol is not mentioned in any international guideline, and its use varies greatly between PICUs worldwide. We describe a 17-year-old Caucasian female with SAA resulting in an out-of-hospital cardiac arrest. After basic life support and return of spontaneous circulation, the ambulance administered oxygen, inhaled salbutamol, IV magnesium sulphate, and systemic corticosteroids. Despite of this, she was still in severe respiratory distress. Therefore, a loading dose of IV salbutamol was administered, after which an immediate improvement was observed. Having a loading dose of IV salbutamol available for emergency medical services use for SAA in children with life-threatening SAA in the out-of-hospital setting is important to consider. Further study on the dose and the effect of a loading dose IV salbutamol in children with SAA is necessary.
Paraneoplastic neurological syndromes: severe neurological symptoms resulting from relatively benign or occult tumours-two case reports
Authors: M Ghadiri-Sani, Mueez Waqar, Dave Smith, Mark Doran
Journal: Case Rep Oncol Med (2013)

Introduction. Paraneoplastic syndromes represent rare symptom complexes resulting from the ability of tumour cells to disrupt the homeostatic processes of various bodily systems. Here we present two cases to demonstrate how such tumours may evade detection even after extensive investigation and how even relatively benign tumours can produce severe neurological symptoms. Case 1. A 69-year-old female was admitted with a subacute onset of dysarthria, ataxia, and cerebellar signs. Workup revealed a relatively benign Non-Hodgkin's Lymphoma. Case 2. A 64-year-old female was admitted with acute leg weakness, which progressed to quadriplegia and was eventually fatal over the ensuing months. Her Ca-125 was elevated, though three different CT views of her pelvis and surgical exploration failed to demonstrate any malignancy. Discussion. These cases highlight how even relatively benign or very small tumours may result in severe neurological symptoms. Suspecting and investigating paraneoplastic syndromes (PNSs) are crucial as up to 80% of patients present with PNS before there is any other indication of malignancy. A PET scan and regular surveillance may reveal occult malignancies better than CT or MRI. Neuromodulatory therapies and treatment of the underlying malignancy remain the best management options in these patients.
Presence of Multiple Autoimmune Antibodies Involved in Concurrent Myositis and Myocarditis and Myasthenia Gravis Without Thymoma: A Case Report
Authors: Zhijian Zhou, Xia Chen, Gonglu Liu, Jiali Pu, Jimin Wu
Journal: Front Neurol (2019)
Keywords: immunotherapy, inflammatory myositis, myasthenia gravis, myocarditis, thymoma-associated antibodies
MeSH terms: Case Reports

Inflammatory myositis (IM) and myasthenia gravis (MG) are both immune disorders involving muscle. The concurrent presence of both conditions in the same patient is extremely rare and the diagnosis is important and challenging. Here, we report a case of concurrent myositis and myocarditis and MG without thymoma in a 69-year-old man with progressive proximal muscle weakness and dysphagia. As an atypical finding, the laboratory immunity assay showed the presence of multiple antibodies (acetylcholine receptor-Ab, titin-Ab, M7-Ab, smooth muscle alpha (SMA)-Ab, and citrate acid extract (CAE)-Ab). We predicted that thymoma-associated antibodies (titin-Ab, SMA-Ab, and CAE-Ab) and anti-M7 antibodies play an important role in the concurrent presence of MG and myositis and myocarditis. In this overlap case, immunotherapy was determined to be effective.
A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer
Authors: Yoshika Akizawa, Toshiyuki Yamamoto, Kazuo Tamura, Toshiyuki Kanno, Nobuko Takahashi, Takeshi Ohki, Teppei Omori, Katsutoshi Tokushige, Masakazu Yamamoto, Kayoko Saito
Journal: Hum Genome Var (2018)
MeSH terms: Case Reports

Lynch syndrome is a genetic disorder related to cancer predisposition, including colorectal cancer, endometrial cancer, and ovarian cancer. Germline mutations in mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2, are responsible for this condition. Cancer tissue specimens resected from small bowel adenocarcinoma in a Japanese patient showed decreased expression of MLH1 and PMS2 by immunohistochemistry testing. Finally, a novel MLH1 mutation, c.1833dup, was identified in this patient.
Bilateral Traumatic Testicular Dislocation
Authors: Nubyhélia Maria Negreiro de Carvalho, Ana Clemilda Ximenes Marques, Ivon Teixeira de Souza, Vanessa Guerreiro Soares, Felipe Gomes do Nascimento, Letícia Macedo Pinto, Luccas Victor Rodrigues Dias, Guilherme Carneiro Teixeira
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

Traumatic testis dislocation is an uncommon condition and usually occurs after direct impact on the scrotum. We present an uncommon case of bilateral testicular dislocation caused by an automotive accident, which is the most frequently associated cause described in literature today. Although the fact that diagnosis can be made either by physical examination or with the use of basic exams such as Doppler ultrasound, it is not uncommon for cases to go undetected and diagnosed late. In this case, there was a late diagnosis, almost one year after the motorcycle accident. Despite this, studies describe preservation of spermatogenesis even after delayed surgical correction. The treatment can be made by manual reduction, but most of the cases need surgical correction. Therefore, it is always necessary to perform the complete physical examination of the polytrauma patient on the first medical exam, in order to avoid the risk of fertility loss, endocrine dysfunction, and future malignancy.
Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family
Authors: Stefan Nicolau, Benjamin M Howe, Elie Naddaf
Journal: Front Neurol (2020)
Keywords: desmin, distal myopathy, hereditary myopathy, muscle mri, myofibrillar myopathy
MeSH terms: Case Reports

Myofibrillar myopathies (MFM) are a clinically and genetically heterogenous group of inherited myopathies characterized by aggregation of Z-disc proteins. Mutations in desmin account for ~7% of MFM. We report here a Hmong family with an autosomal dominant MFM caused by a novel variant in the desmin gene. The proband presented with lower limb followed by upper limb weakness starting in the 5th decade. On examination, there was distal more than proximal muscle weakness. One sibling was similarly affected, while another had an asymptomatic elevation of creatine kinase. Genetic testing revealed a novel p.Ser13Tyr variant, which was predicted by in silico algorithms to alter protein function. Muscle biopsy revealed a MFM. Muscle MRI demonstrated selective involvement of the tensor fasciae latae, semitendinosus, sartorius, gracilis, gastrocnemius, soleus, and peroneus longus muscles. In this family, the histological and MRI findings assisted in the interpretation of genetic testing results.