OpenMed/multicare-articles huggingface dataset:
Speech and Language Delays Associated With New-Onset Seizures Revealing Dandy-Walker Variant
Authors: Sara Moudaffar, Mohssine Arraji, Bouchra Aabbassi, Iman Adali, Fatiha Manoudi
Journal: Cureus (2024)
Keywords: dandy-walker syndrome, dandy-walker variant, developmental delay, new-onset seizure, posterior fossa malformations
MeSH terms: Case Reports

Dandy-Walker malformation or syndrome is a rare congenital deformity in which the cerebellar vermis is hypoplastic and upwardly rotated, the fourth ventricle enlarged, and the posterior fossa cystically dilated. It represents the most common type of posterior fossa malformations that are usually diagnosed before the age of one year old. We present a seven-year-old boy with a history of neonatal hypotonia and delayed walking, who presented with speech and language difficulties. His physical examination and cognitive tests were unremarkable. The patient's brain magnetic resonance imaging showed a partial defect of the inferior part of the cerebellar vermis and communication between a normal-sized cisterna magna and the fourth ventricle. There were no other coexisting central nervous system or systemic anomalies. This isolated inferior vermian hypoplasia was compatible with an uncommon variant of the Dandy-Walker syndrome. The aim of this report is to provide insight into the importance of implementing a pediatrician-psychiatrist collaboration in the clinical decision-making process of such developmental delay cases. What makes the present case further interesting are the new-onset unprovoked seizures that developed and recurred in the setting of such isolated and less severe posterior fossa anomaly, raising both diagnostic and therapeutic challenges.
Case report: EGFR fusion mutation combined with EGFR amplification responds to EGFR-TKI therapy
Authors: Zhulin Wang, Chunyao Huang, Wenbo Fan, Shaowu Sun, Kaiyuan Li, Xu Liu, Jiangtao Pu, Guoqing Zhang, Xiangnan Li
Journal: Front Oncol (2024)
Keywords: egfr amplification, egfr fusion, lung adenocarcinoma, rare mutations, targeted therapy
MeSH terms: Case Reports

Given their good antitumor effects, epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) are standard first-line therapy for EGFR-sensitive mutations, including exon 19 deletions and exon 21 L858R mutations. EGFR fusion mutations and EGFR amplification are very rare in non-small cell lung cancer (NSCLC). We describe 2 patients with NSCLC harboring EGFR fusion mutations (EGFR-MACF1 and EGFR-GNAT3) combined with EGFR amplification. Both patients received EGFR-TKI treatment, and 1 of them showed an antitumor response.
Primary mediastinal seminoma with azoospermia: case report and review of the literature
Authors: Zhiwei Li, Qiqi Zhu, Shaorui Niu, Kaibing Xiao, Zhiyang Xiao, Pang Yang
Journal: Front Oncol (2024)
Keywords: mediastinum, azoospermia, germ cell tumor, mediastinal tumor, seminoma
MeSH terms: Case Reports

Introduction:
Since the first report, primary mediastinal seminoma has a low incidence in the population, and it mainly affects young and middle-aged men, is clinically rare, and accounts for a very small proportion of mediastinal tumors. In this study, we describe the first case of primary mediastinal seminoma with azoospermia and hypothesize that the coexistence of the two disorders may not be a coincidence.
Case report:
A 16-year-old man presented with chest tightness and chest pain, a mediastinal mass on chest CT, and abnormal 18F-fluoro-deoxyglucose uptake on a PET-CT scan. By biopsy of the mass, the pathological diagnosis was a primary mediastinal seminoma. Because chemotherapy is included in the treatment of the tumor, the patient underwent sperm freezing before treatment, considering that chemotherapy can affect fertility, but the patient was diagnosed with azoospermia. Finally, the patient underwent tumor resection and postoperative chemotherapy. No tumor recurrence was observed at the current follow-up.
Conclusion:
Primary mediastinal seminoma is mainly confirmed by histopathological examination, and surgery and chemoradiotherapy are the current treatments. In patients with mediastinal seminoma or azoospermia, doctors should be aware that the two disorders may coexist, especially in men who have fertility requirements or long-term infertility, and that examination of the mediastinum and semen may lead to unexpected findings in the diagnosis and treatment. For mediastinal germ cell tumors, genetic testing is of great value in the treatment of tumors and the prediction of associated diseases. Future studies exploring the potential correlation between mediastinal seminoma and azoospermia will be prospective.
Maxillary Protrusion with Severe Overjet Treated by Maxillary Anterior Alveolar Osteotomy
Authors: Daisuke Tomita, Shugo Haga, Fumi Tanzawa, Taira Miyazawa, Haruhisa Nakano, Koutaro Maki
Journal: Case Rep Dent (2024)
MeSH terms: Case Reports

In addition to affecting oral functions such as temporomandibular joint function, mastication, and speech, malocclusion caused by skeletal maxillary prognathism also entails sociopsychological implications. Surgical orthodontic treatment to improve occlusion and oral function and to correct esthetic disharmony is important to improve patients' quality of life. We report the case of a 32-year-old woman who visited our hospital with a chief complaint of proclined upper front teeth. Clinical examination revealed maxillary overgrowth and severe labial inclination of the maxillary incisors with palatal gingival recession. The incisal protrusion was corrected with a maxillary anterior alveolar osteotomy-a surgical orthodontic method that could improve the overbite without causing excessive lingual inclination, while also minimizing orthodontic movement of the maxillary anterior teeth. This treatment is generally indicated in cases of maxillary prognathism with a relatively stable occlusal relationship in the molar region. As a result of the treatment, the patient's chief complaint improved and a long-term functional occlusion was achieved. This paper outlines the pre- and posttreatment skeletal and occlusal changes.
Case report: Cutaneous anthrax diagnosed using mNGS of a formalin-fixed paraffin-embedded tissue sample
Authors: Jin Zhang, Xin-Yi Hou, Jing-Yu Wang, Bin Lu
Journal: Front Cell Infect Microbiol (2024)
Keywords: bacillus anthracis, ffpe, case report, cutaneous anthrax, formalin-fixed paraffin-embedded, metagenomic next-generation sequencing (mngs)
MeSH terms: Anthrax / diagnosis, Skin Diseases, Bacterial, Case Reports, Formaldehyde / therapeutic use, High-Throughput Nucleotide Sequencing / methods, Humans, Male, Metagenomics / methods, Paraffin Embedding, Sensitivity and Specificity, Formaldehyde, Cutaneous anthrax

The metagenomic next-generation sequencing (mNGS) method is preferred for genotyping useful for the identification of organisms, illumination of metabolic pathways, and determination of microbiota. It can accurately obtain all the nucleic acid information in the test sample. Anthrax is one of the most important zoonotic diseases, infecting mainly herbivores and occasionally humans. The disease has four typical clinical forms, cutaneous, gastrointestinal, inhalation, and injection, all of which may result in sepsis or meningitis, with cutaneous being the most common form. Here, we report a case of cutaneous anthrax diagnosed by mNGS in a butcher. Histopathology of a skin biopsy revealed PAS-positive bacilli. Formalin-fixed paraffin-embedded (FFPE) tissue sample was confirmed the diagnosis of anthrax by mNGS. He was cured with intravenous penicillin. To our knowledge, this is the first case of cutaneous anthrax diagnosed by mNGS using FFPE tissue. mNGS is useful for identifying pathogens that are difficult to diagnose with conventional methods, and FFPE samples are simple to manage. Compared with traditional bacterial culture, which is difficult to cultivate and takes a long time, mNGS can quickly and accurately help us diagnose anthrax, so that anthrax can be controlled in a timely manner and prevent the outbreak of epidemic events.
Case report: Insulinomatosis: description of four sporadic cases and review of the literature
Authors: Delmar Muniz Lourenço Jr, Maria Lucia Corrêa-Giannella, Sheila Aparecida Coelho Siqueira, Marcia Nery, Flavio Galvão Ribeiro, Elizangela Pereira de Souza Quedas, Manoel de Souza Rocha, Ramon Marcelino do Nascimento, Maria Adelaide Albergaria Pereira
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: mafa gene, hyperinsulinemic hypoglycemia, insulinoma, insulinomatosis, long-term outcome, postprandial hypoglycemia
MeSH terms: Hyperinsulinism, Hypoglycemia, Neuroendocrine Tumors, Review, Case Reports, Research Support, Non-U.S. Gov't, Affect, Female, Humans, Hypoglycemic Agents, Hypoglycemic Agents

The best-known etiologies of hyperinsulinemic hypoglycemia are insulinoma, non-insulinoma pancreatogenous hypoglycemic syndrome, autoimmune processes, and factitious hypoglycemia. In 2009, a disease not associated with classic genetic syndromes and characterized by the presence of multiple pancreatic lesions was described and named insulinomatosis. We present the clinical and pathologic features of four patients with the diagnosis of insulinomatosis, aggregated new clinical data, reviewed extensively the literature, and illustrated the nature and evolution of this recently recognized disease. One of our patients had isolated (without fasting hypoglycemia) postprandial hypoglycemia, an occurrence not previously reported in the literature. Furthermore, we reported the second case presenting malignant disease. All of them had persistent/recurrent hypoglycemia after the first surgery even with pathology confirming the presence of a positive insulin neuroendocrine tumor. In the literature review, 27 sporadic insulinomatosis cases were compiled. All of them had episodes of fasting hypoglycemia except one of our patients. Only two patients had malignant disease, and one of them was from our series. The suspicion of insulinomatosis can be raised before surgery in patients without genetic syndromes, with multiple tumors in the topographic investigation and in those who had persistent or recurrent hypoglycemia after surgical removal of one or more tumors. The definitive diagnosis is established by histology and immunohistochemistry and requires examination of the "macroscopically normal pancreas." Our case series reinforces the marked predominance in women, the high frequency of recurrent hypoglycemia, and consequently, a definitive poor response to the usual surgical treatment.
Real-world evidence on tagraxofusp for blastic plasmacytoid dendritic cell neoplasm - collected cases from a single center and case reports
Authors: Philipp Faustmann, Jan C Schroeder, Lucas Mix, Lennart Harland, Andreas Riedel, Wichard Vogel, Claudia Lengerke, Stefan Wirths
Journal: Front Oncol (2024)
Keywords: bpdcn, first in class therapy, hematology, orphan disease, tagraxofusp, targeted therapy

Introduction:
Blastic plasmacytoid dendritic cell neoplasia (BPDCN) is a rare, aggressive hematologic malignancy. Until recently, the only curative treatment consisted of intensive chemotherapy, followed by hematopoietic cell transplantation (HCT) in eligible adult cases. Tagraxofusp, a CD123-targeted protein-drug conjugate and the first approved targeted treatment for BPDCN, might enhance outcomes especially in patients not eligible for intensive therapies.
Methods:
Here, we report real-world outcomes of five male patients with a median age of 79 years who received tagraxofusp as first-line treatment for BPDCN.
Results:
Tagraxofusp was found to be well-tolerated in this elderly cohort, with only one patient requiring discontinuation. Three patients responded to the treatment (two patients achieved a CR and one patient achieved a partial response), of which two subsequently underwent allogeneic (allo) HCT. One patient is alive and well after ≥ 4 years after alloHCT, and one patient shows sustained CR after now 13 cycles of tagraxofusp. The other three patients died of progressive disease 4-11 months after initiation of treatment.
Discussion:
In line with results from 13 published cases outside clinical trials in the literature, sustained responses were associated with CR after tagraxofusp treatment and subsequent alloHCT. Our results provide real-world evidence for safety and efficacy of tagraxofusp as first-line treatment for BPDCN.
Point of Care Ultrasound Diagnosis of Maxillary Artery Pseudoaneurysm in the Emergency Department
Authors: Marwa L Ali, Sean Beckman, Stephen Alerhand
Journal: POCUS J (2024)
Keywords: maxillary artery pseudoaneurysm, pocus, point-of-care ultrasound, pseudoaneurysm
MeSH terms: Case Reports

A pseudoaneurysm results from a tear in a vessel wall. This leads to extravasation of blood into adjacent tissue and eventual formation of a fibrous sac that maintains continuity with the lumen. These vascular injuries very rarely occur in deeper vessels of the face (e.g. maxillary artery) due to protection from structures like the bony mandible and parotid gland. If left untreated, these pseudoaneurysms can lead to infection, thromboembolism, hemorrhage, and compression of surrounding structures such as facial nerve branches. Pseudoaneurysms are typically diagnosed by advanced imaging techniques including computed tomography angiography and magnetic resonance angiography. However, these tests require time to perform and interpret, are costly, and take place outside the patient care area. Computed tomography also confers ionizing radiation. Fortunately, point of care ultrasound (POCUS) is a readily available, dynamic imaging tool that can be performed at the bedside. Here we present the first known case report of a maxillary artery pseudoaneurysm diagnosed by POCUS in the emergency department. Early differentiation from a typical hematoma led to rapid management in the form of a compression bandage, as well as expedited consultation to the appropriate services.
Case report: Fatal insulin overdose in a dog with type 1 diabetes mellitus-characteristics and successful management
Authors: Jun-Hyeong Park, Ju-Hyun An, Se-Hoon Kim, Han-Sol Choi, Tae-Hyeon Kim, Ye-In Oh, Kyoung-Won Seo, Hwa-Young Youn
Journal: Front Vet Sci (2023)
Keywords: nph, dog, glucagon, hypoglycemia, mannitol
MeSH terms: Case Reports

Administering more than 10 times the therapeutic dose of insulin is extremely rare in diabetic dogs and is life threatening with hypoglycemia and seizures if not accompanied by appropriate treatment. A 15-year-old, castrated male miniature poodle dog managed for diabetes presented with depression, disorientation, ataxia, and cluster seizures. The dog had been administered 11.1 U/kg of neutral protamine hegadorn (NPH) insulin (10 times the prescribed dose) 3 h before the onset of symptoms. Blood analysis revealed hypoglycemia, with a circulating glucose level of <50 mg/dL. To treat the hypoglycemia-induced seizures, dextrose was repeatedly administered intravenously. Repeated generalized seizures were treated with anticonvulsants and intermittent mannitol. Since refractory hypoglycemia persisted 24 h after the insulin overdose, it was decided to proceed with glucagon treatment (15-30 ng/kg/min titrated to the blood glucose level after a loading dose of 50 ng/kg intravenous bolus infusion). After 37 h of glucagon treatment, blood glucose levels stabilized. After entering a hyperglycemic state, NPH insulin was administered to manage insulin-dependent diabetes mellitus. This is the first case documented of successful treatment with glucagon, anticonvulsants and intermittent mannitol for refractory hypoglycemia and seizure caused by fatal insulin overdose. Thus, it has great clinical value in veterinary medicine.
Case report: Characterizing of free-floating pigmented vitreous cyst using swept-source optical coherence tomography
Authors: Kexin Shi, Qichuan Yin, Yuxin Huang, Sifan Zheng, Yao Wang, Xingchao Shentu
Journal: Front Med (Lausanne) (2024)
Keywords: b-scan ultrasound, fundus photography, optical coherence tomography, slit lamp, vitreous cyst
MeSH terms: Case Reports

Aim:
A free-floating vitreous cyst is a rare eye disease. This study aimed to find diagnostic imaging methods and imaging features for vitreous cysts.
Methods:
This article presents a case report along with a literature review of published cases of vitreous cysts. The case report describes a highly myopic 60-year-old woman with a pigmented, free-floating vitreous cyst in her right eye. A search of the PubMed database using the keywords "vitreous cyst" was performed to identify other cases reported in the literature and to summarize the imaging methods used to diagnose and visualize vitreous cysts and the imaging features of vitreous cysts.
Results:
A thorough ophthalmic examination was performed in the present case, including slit-lamp photography, B-scan ultrasound, broad line fundus imaging, spectral-domain optical coherence tomography (SD-OCT), and ultra-wide field SS-OCT. The literature review revealed the imaging methods used in previously reported cases of vitreous cysts in which ultra-wide field SS-OCT has the advantages of wide scanning depth and high imaging clarity.
Conclusion:
SS-OCT has an advantage over SD-OCT in providing intuitive morphological characteristic images for the diagnosis of posterior vitreous cysts. The comprehensive assessment of multimodal imaging examinations, including SS-OCT, is of significant value for the diagnosis and differential diagnosis of vitreous cysts.
Case report: The diagnostic pitfall of Warthin-like mucoepidermoid carcinoma
Authors: Ying Yang, Zi Lei, Yixu Lang, Li Wu, Jun Hu, Shiyue Liu, Zaoxiu Hu, Guoqing Pan
Journal: Front Oncol (2024)
Keywords: maml2, warthin tumor, warthin-like mucoepidermoid carcinoma, mucoepidermoid carcinoma, salivary gland
MeSH terms: Case Reports

Warthin-like mucoepidermoid carcinoma (WL-MEC) is a newly reported variant of mucoepidermoid carcinoma. Its histological feature is easy to confused with metaplastic Warthin Tumor, and its relationship with Warthin tumor in histogenesis is controversial. In this study, we presented two cases of WL-MEC, discussing their clinicopathological and molecular features. Notably, one case was initially misdiagnosed during the first onset of the tumor. Case 1 was a 60-year-old female with a mass in the right parotid gland. Case 2 featured a 29-year-old male who developed a lump at the original surgical site 6 months after a "Warthin tumor" resection from the submandibular gland. Histologically, both tumor exhibited a prominent lymphoid stroma and cystic pattern, accompanied by various amounts of epithelial nests composed of squamoid cells, intermediate cells and mucinous cells. The characteristic eosinophilic bilayer epithelium of Warthin tumor was not typically presented in either case. Both cases tested positive for MAML2 gene rearrangement. To contextualize our findings, we conducted a comprehensive review of forty-eight WL-MEC cases documented in the English literature, aiming to synthesizing a reliable differential diagnostic approach. WL-MEC is a rare yet clinically relevant variant, posing a diagnostic pitfall for pathologists. Our study underscores the importance of a meticulous evaluation of both clinical and histological features, coupled with the detection of MAML2 rearrangement, as a credible method for distinguishing WL-MEC from other benign and malignant lesions, particularly metaplastic Warthin tumor.
Case report: Resolution of Guillain-Barré syndrome in a patient with dual primary tumors after treatment with rituximab
Authors: Desheng Zhang, You Wang, Fuxiang Zhou
Journal: Front Neurol (2024)
Keywords: guillain-barré syndrome, case report, immune checkpoint inhibitors, targeted therapy, tumor
MeSH terms: Case Reports

Guillain-Barré syndrome (GBS) is a rare immune-related adverse event (irAE) that can occur in solid tumors such as hepatocellular carcinoma, gastric cancer, breast cancer, and colorectal cancer. It is characterized by progressive myasthenia and mild sensory abnormalities. The emergence of immune checkpoint inhibitors (ICIs) has significantly improved cancer patients' life expectancy but can also trigger various irAEs, including GBS. We report a rare case of GBS in a 64-year-old male patient with dual primary tumors of the colon and stomach who received toripalimab and chemotherapy for liver metastases. After five treatments, the patient experienced weakness and numbness in his limbs. Lumbar puncture, electromyography, and other tests confirmed the diagnosis of GBS. Intravenous immunoglobulin (IVIG) and methylprednisolone did not improve the patient's symptoms, but rituximab, which is not a standard regimen for GBS, was effective in eliminating B cells and improving symptoms. Following this, we effectively shifted from a regimen combining immunotherapy and chemotherapy to a targeted therapy regimen, resulting in prolonged patient survival. Currently, limited studies have been undertaken to evaluate the efficacy of rituximab in managing refractory neurological adverse events associated with ICI therapy. Using this case, we reviewed similar cases and formed our views.
Chemical painful post-traumatic trigeminal neuropathy induced by dental bleaching: A case report
Authors: Ashley Lebel, Tal Wizman, Géraldine Lescaille, Sandrine Dahan, Yves Boucher, Julia Bosco
Journal: J Clin Exp Dent (2024)
MeSH terms: Case Reports

Background:
Teeth whitening is a frequent request in clinical practice. The most widely used whitening agent on vital teeth is carbamide peroxide. This article reports a rare adverse effect following a whitening procedure.
Case description:
A 29-year-old patient was referred to the dental emergency department for severe pain that exhibited the characteristics of neuropathic pain. In the absence of any visible lesion or traumatic event, this pain was linked to the recent application of carbamide peroxide (10%) during a bleaching procedure. The diagnosis of painful post-traumatic trigeminal neuropathy (PTTN) of chemical origin was made. Treatment with the anticonvulsant gabapentin (900mg per day) gradually reduced the pain until its complete disappearance. After presenting the clinical characteristics of the case, the pathophysiological hypotheses are discussed.
Practical implications:
Carbamide peroxide application may elicit nerve damage through a cascade of cellular and biological reactions, resulting in neuropathic pain. The successful management of this clinical case may provide useful information for similar situations. Key words:Case report, carbamide peroxide, painful neuropathy, pain, gingiva.
Multiple cardiac myxofibrosarcomas with complete right pulmonary artery occlusion: a case report
Authors: Weimin Zhang, Qi Tang, Balhen Bolathan, Yan Xing, Xiaoxin Sun, Qiang Huo
Journal: Front Oncol (2023)
Keywords: cardiac tumor, complete right pulmonary artery occlusion, myxofibrosarcoma, primary, surgery
MeSH terms: Case Reports

Primary cardiac myxofibrosarcoma is a rare form of cardiac malignant tumors. MFS usually involves the left atrium and presents as a unicentric or multicentric tumor mass. We reported on a 37-year-old female who presented with chest tightness and dyspnea for a month, dry cough, and occasionally having blood streak sputum for half a month. Echocardiography, cardiac computed tomography and cardiac positron emission tomography revealed multiple tumors in the heart. The right ventricle and right pulmonary artery were involved, with occlusion of the right pulmonary artery. Cardiac tumors were surgically resected and were consistent with low-grade MFS. No recurrence or metastasis occurred at 20 months of follow-up.