OpenMed/multicare-articles huggingface dataset:
AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings
Authors: Vanessa I Romero, Samantha Sáenz, Benjamín Arias-Almeida, Daniela DiCapua, Kazuyoshi Hosomichi
Journal: Front Neurol (2024)
Keywords: aars, cacna1a, case review, epilepsy, epileptic encephalopathy, progressive cognitive decline
MeSH terms: Case Reports

Epilepsy, characterized by recurrent seizures, impacts 70-80% of patients, leading to cognitive deficits. The intricate relationship between seizure control and cognitive impairment remains complex. Epileptic encephalopathy (EE), an intensified form often rooted in genetic factors, is detectable through next-generation sequencing, aiding in precise diagnoses, family counseling, and potential treatment strategies. We present a case involving two sisters with refractory generalized seizures evolving into dysarthria, dysphagia, ataxia, and cognitive decline. Despite normal physical exams, abnormal electroencephalogram results consistent with epilepsy were noted. Whole Exome Sequencing identified heterozygous variants in the alanyl-tRNA synthetase (AARS) and Calcium Voltage-Gated Channel Subunit Alpha 1 (CACNA1A) genes. The AARS variant (c.C2083T, p.R695*) was maternal, while the CACNA1A variant (c.G7400C, p.R2467P) was paternal. Patients A and B exhibited a unique blend of neurological and psychiatric conditions, distinct from common disorders that begin adolescence, like Juvenile Myoclonic Epilepsy. Whole Exome Sequencing uncovered an AARS gene and CACNA1A gene, linked to various autosomal dominant phenotypes. Presence in both parents, coupled with familial reports of migraines and seizures, provides insight into accelerated symptom progression. This study underscores the importance of genetic testing in decoding complex phenotypes and emphasizes the value of documenting family history for anticipating related symptoms and future health risks.
Pemetrexed-Induced Pseudocellulitis: A Diagnostic Conundrum
Authors: Luke A Horton, Alexis B Lyons, Michael C Kwa, Marsha L Chaffins, Jesse Veenstra
Journal: Cureus (2024)
Keywords: cellulitus, complex medical dermatology, dermatology, drug reaction, infectious cellulitis, inpatient dermatology, oncodermatology, pemetrexed, pseudocellulitis, supportive onco-dermatology
MeSH terms: Case Reports

Pemetrexed, an anti-folate, antineoplastic agent, effectively treats various malignancies such as non-small cell lung cancer (NSCLC) and mesothelioma. Here, we report two cases of recurrent pemetrexed-induced lower extremity erythema and edema, one in a 60-year-old male and the other in a 47-year-old male, who were both treated for recurrent cellulitis on multiple occasions before finally being diagnosed with pemetrexed-induced pseudocellulitis (PIP), a rarely reported adverse effect. This is an important diagnostic pitfall for clinicians to be aware of, as early recognition may minimize patient morbidity and prevent unnecessary hospitalization and antibiotic use for presumed cellulitis.
Case report: Surgical treatment of pyloric obstruction with intramural gastric abscess induced by fragmented crystalline foreign materials in a dog
Authors: Jihun Kim, Hyunglak Son, Sungin Lee
Journal: Front Vet Sci (2024)
Keywords: billroth i procedure, dogs, foreign material, gastric abscess, pyloric outflow obstruction
MeSH terms: Case Reports

An 11-year-old neutered male Maltese presented with a 2-day history of persistent vomiting and lethargy. Abdominal ultrasonography revealed a hypoechoic marginal mass with gastric wall thickening in the pyloric region of the stomach. Computed tomography revealed a non-contrast-enhanced mass in the pyloric antrum causing pyloric outflow obstruction. Imaging studies suggested a tumor and surgical treatment was performed due to the deterioration of the patient's condition. The pyloric mass was excised, and the stomach and duodenum were anastomosed via pylorectomy and gastroduodenostomy (Billroth I procedure). Postoperatively, the pyloric outflow obstruction resolved, clinical symptoms improved, and no significant complications were observed. Histopathological examination revealed a gastric abscess characterized by a mass-like area with abundant necrosis. Angular fragmented crystalline foreign materials were observed within the lesion. To our knowledge, this is the first reported case of an intramural gastric abscess caused by fragmented crystalline foreign materials in a dog. Although rare, this case highlights the importance of considering gastric abscesses in the differential diagnoses of gastric masses. If the cause of the gastric abscess is an invisible foreign material, postoperative follow-up should be considered to monitor for potential recurrence.
Tumefactive Crohn's Disease Mimicking Colon Carcinoma in a Young Female: A Case Report
Authors: Ali Z Ansari, Sania Razzak, Srihita Patibandla, Sarthak Kumar, Sahar Hafeez, Kurt Kratz
Journal: Cureus (2024)
Keywords: anatomical pathology, colon carcinoma, crohn's disease (cd), inflammatory bowel disease, ulcerative colitis (uc)
MeSH terms: Case Reports

Tumefactive Crohn's disease is a rare form of Crohn's disease that may mimic colon carcinoma macroscopically. This case report describes a 28-year-old female who presented with right-sided abdominal pain and a palpable abdominal mass that had persisted for over a month. Multiple hospitalizations failed to provide an accurate diagnosis until an exploratory laparotomy revealed that the "mass" was the cecum and a perforated ascending colon. A partial right colectomy was performed, sending the specimen for biopsy. The microscopic description showed dense and confluent chronic inflammation in the colonic mucosa and wall, extending to the serosa in some regions. The infiltration comprised lymphocytes and plasma cells, with an admixture of some neutrophils. Aphthous mucosal ulcerations, intramural fissures, and fistulas were present. Immunostains for pan-keratin demonstrated no intramural epithelial elements. The characteristics of this lesion represent tumefactive Crohn's disease. This case highlights the key microscopic characteristics that pathologists look for when differentiating Crohn's disease from colon carcinoma in a patient presenting with abdominal pain and a colon mass.
Case report: Kikuchi-Fujimoto disease: unveiling a case of recurrent fever and enlarged cervical lymph nodes in a young female patient with a literature review of the immune mechanism
Authors: Jia-Li Yu, Zhen Li, Bo Zhang, Ya-Nan Huang, Tian-Yu Zhao
Journal: Front Immunol (2024)
Keywords: cd123+ plasmacytoid dendritic cells, cd4+ t lymphocytes, cd8+ t lymphocytes, kikuchi-fujimoto disease, immune mechanism, virus-induced inflammation
MeSH terms: Epstein-Barr Virus Infections / pathology, Histiocytic Necrotizing Lymphadenitis / diagnosis, Histiocytic Necrotizing Lymphadenitis / drug therapy, Histiocytic Necrotizing Lymphadenitis / pathology, Lymphadenopathy / diagnosis, Relapsing Fever, Case Reports, Review, Diagnosis, Differential, Female, Herpesvirus 4, Human, Humans, Immunoglobulin G, Lymph Nodes / pathology, Immunoglobulin G

The inflammatory response to viral infection is an important component of the antiviral response, a process that involves the activation and proliferation of CD8+ T, CD4+ T, and dendritic cells; thus, viral infection disrupts the immune homeostasis of the organism, leading to an increased release of inflammatory factors. Kikuchi-Fujimoto disease (KFD) is an inflammatory self-limited disorder of unknown etiology, and it is generally believed that the pathogenesis of this disease includes two aspects: viral infection and autoimmune response. Various immune cells, such as CD8+ T lymphocytes, CD4+ T lymphocytes, and CD123+ plasmacytoid dendritic cells, as well as the cytokines they induce and secrete, such as interferons, interleukins, and tumor necrosis factors, play a crucial role in the pathogenesis of KFD. In this article, we present a case study of a young female patient from China who exhibited typical symptoms of lymph node inflammation and fever. The diagnosis of KFD was confirmed through a lymph node biopsy. She presented with elevated ESR, IL-6, and IFN-γ. Viral markers showed elevated IgG and IgM of cytomegalovirus (CMV) and elevated IgG of Epstein-Barr virus (EBV), while changes occurred in the CD4+ T and CD8+ T cell counts. Eventually, the patient achieved disease relief through steroid treatment. Based on these findings, we conducted a comprehensive review of the involvement of viral infection-induced inflammatory response processes and autoimmunity in the pathogenesis of Kikuchi-Fujimoto disease.
Persistent Vulvar Itch Unresponsive to Treatment: A Case of Vulvar Schistosomiasis Caused by Schistosoma mansoni and a Brief Review of Literature
Authors: Anthony Gyening-Yeboah, Solomon E Quayson
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

Background:
Vulvar schistosomiasis is a female genital schistosomiasis (FGS), which occurs because of the damage caused by the presence of schistosome ova within the vulva. FGS is mostly misdiagnosed as a sexually transmitted infection. There is no reported case of vulvar schistosomiasis from Schistosoma mansoni in an immunocompetent or immunocompromised person in Ghanaian medical literature; however, there is a reported case of S. haematobium in an immunocompromised person. This is the first case of vulvar schistosomiasis from S. mansoni infection in an immunocompromised person. This case report discusses the need to consider vulvar schistosomiasis in patients with itchiness of the vulva. Case Presentation. A sixty-nine-year-old married woman presents with a persistent vulvar itch that is unresponsive to treatment. A clinical diagnosis of vulvar lichen planus unresponsive to medical therapy was made. A histopathological diagnosis of vulvar schistosomiasis was, however, made. Ziehl-Neelsen stain revealed the ova of Schistosoma mansoni. Symptoms resolved on administration of oral praziquantel.
Conclusion:
Vulvar schistosomiasis must be considered in clinical history-taking and investigation of signs and symptoms related to itchiness of the vulva. Ziehl-Neelsen staining is a helpful histopathology armamentarium to determine the species of schistosome ova.
Case report: Navigating the challenges: successful mechanical thrombectomy in a case of persistent primitive hypoglossal artery
Authors: Kamran Ahmed Khan, Irfan Amjad Lutfi, Jehangir Ali Shah, Salman Farooq, Shahnoor Ahmed, Bashir Ahmed Solangi, Ayan Ahmed Khan, Fazal Zaidi, Ali Ammar, Nadeem Qamar
Journal: Front Neurol (2023)
Keywords: mca, ppha, mechanical thrombectomy, persistent primitive hypoglossal artery, stroke
MeSH terms: Case Reports

Persistent primitive hypoglossal artery (PPHA) is a highly uncommon abnormal connection between the internal carotid artery (ICA) and vertebral artery (VA), with reported incidences ranging from 0.027 to 0.26%. Attempting endovascular intervention in such cases presents a considerable challenge as it carries a higher risk of embolization and other procedure-related complications that may affect a wide area of the brain. We present a case study involving the utilization of mechanical thrombectomy (MT) to treat an ischemic stroke in the M1 segment of the middle cerebral artery (MCA) despite the presence of PPHA. Performing mechanical thrombectomy in an anomalous vascular connection is feasible; however, it necessitates heightened vigilance, thorough knowledge of the anatomy, and utmost caution.
Primary Bone Lymphoma Masquerading as Multiple Myeloma: Challenges in the Diagnostic Workup of Severe Hypercalcemia
Authors: Elise Kahn, Laila Nomani, Alexandra M Harrington, Nisar Asmi
Journal: Cureus (2024)
Keywords: diagnosis of multiple myeloma, diagnostic anchoring, diffuse large b cell lymphoma (dlbcl), lytic bone lesion, severe hypercalcemia
MeSH terms: Case Reports

In this case, we explore the diagnostic workup of a patient presenting with symptomatic hypercalcemia. Initially suspected to have multiple myeloma, the diagnostic evaluation instead unveiled non-germinal center (non-GC) diffuse large B-cell lymphoma (DLBCL). DLBCL is the most common histologic subtype of non-Hodgkin lymphoma and is heterogeneous in terms of presentation, genetic drivers, and morphology. As primary bone DLBCL is exceedingly rare, the case presented proved to be a diagnostic challenge. The patient presented with one week of weakness, one to two days of nausea, and leg pain. On admission, hypercalcemia, renal failure, anemia, and lytic bone lesions were present and suggestive of multiple myeloma. However, serum protein electrophoresis and immunoglobulin levels did not fit the 2016 World Health Organization (WHO) diagnostic criteria for multiple myeloma. A negative bone marrow biopsy also argued against a diffuse plasma cell neoplasm. Finally, a biopsy from another bone lesion was diagnostic of DLBCL. This case discusses an unusual presentation of DLBCL.
Session-by-session change in misophonia: a descriptive case study using intensive CBT
Authors: Jane Gregory, Chloe Foster
Journal: Cogn Behav Therap (2023)
Keywords: cbt, case formulation, case study, measurement, transdiagnostic

There is preliminary evidence that CBT may be helpful for improving symptoms of misophonia, but the key mechanisms of change are not yet known for this disorder of decreased tolerance to everyday sounds. This detailed case study aimed to describe the delivery of intensive, formulation-driven CBT for an individual with misophonia and report on session-by-session outcomes using a multidimensional measurement tool (S-Five). The patient was offered twelve hours of treatment over five sessions, using transdiagnostic and misophonia-specific interventions. Reliable and clinically significant change was found from baseline to one-month follow up. Visual inspection of outcome graphs indicated that change occurred on the "outbursts" and "internalising appraisals" S-Five subscales following assessment, and on the "emotional threat" subscale after first treatment session. The other two subscales started and remained below a clinically significant level. The biggest symptom change appeared to have occurred after second session, which included interventions engaging with trigger sounds. The results demonstrated the individualised nature of misophonia, supporting the use of individually tailored treatment for misophonia and highlighting the importance of using a multidimensional measurement tool.
Extensive Iliocaval Deep Vein Thrombosis Provoked by Coronavirus Disease 2019 (COVID-19) in the Setting of an Inferior Vena Cava Filter
Authors: Anisa Raidah, Nolberto Jaramillo Jr, Katherine F Pradas, Anantha Ramanathan
Journal: Cureus (2024)
Keywords: covid-19, deep vein thrombosis (dvt), inferior vena cava thrombosis, ivc filter complication, sars-cov-2
MeSH terms: Case Reports

Thrombotic events are well-known complications of coronavirus disease 2019 (COVID-19). Inferior vena cava filters (IVCF) are devices used to prevent pulmonary embolism (PE) and also increase the risk of thrombotic complications. Here, we describe the case of a 38-year-old female with extensive bilateral lower extremity deep vein thrombosis (DVT) and thrombosis of the infrarenal inferior vena cava (IVC) in the setting of an IVCF and symptomatic COVID-19. The IVCF had been placed a few months prior for a left femoral DVT and PE after spinal surgery. This patient was treated with pharmacomechanical thrombectomy and ultrasound-assisted thrombolysis followed by angioplasty and anticoagulation. The IVCF was retrieved after confirming there was no residual DVT when the patient recovered from COVID-19 infection. This case of a rare combination of IVCF-related thrombosis secondary to COVID-19 highlights the potential pitfalls of IVCF in this situation.
Efficacy of rituximab in refractory polyarteritis nodosa: a case report
Authors: Iméne Boukhris, Mohamed Salah Hamdi, Anis Hariz, Meriem Kesentini, Samira Azzabi, Eya Cherif, Ines Kechaou, Lamia Ben Hassine
Journal: Pan Afr Med J (2023)
Keywords: biological therapy, case report, polyarteritis nodosa, prednisone, skin ulcer
MeSH terms: Drug-Related Side Effects and Adverse Reactions, Polyarteritis Nodosa / diagnosis, Polyarteritis Nodosa / drug therapy, Vasculitis, Case Reports, Adult, Cyclophosphamide, Humans, Male, Rituximab, Rituximab, Cyclophosphamide

Polyarteritis nodosa (PAN) is a systemic vasculitis affecting medium and small-sized vessels resulting in multiple organ involvement. Refractory PAN requires a different therapeutic approach. We herein report the case of a 42-year-old male presenting a non-virus-related refractory PAN with a favorable outcome on rituximab. He presented significant weight loss, muscle weakness, peripheral axonal neuropathy, and medium-sized cutaneous vessel necrotizing vasculitis. The patient received high-dose corticosteroids and cyclophosphamide with no significant clinical improvement while developing adverse side effects such as hypertension and diabetes. Rituximab was prescribed as an alternative therapy at 1000 mg on day 0 and day 15. This allowed for complete and rapid control of disease activity with regression of cutaneous injury and substantial improvement of neurological symptoms. In conclusion, using chimeric anti-CD20 monoclonal antibodies, such as rituximab, although rarely reported in refractory non-virus-related PAN, may be an effective alternative therapy, as portrayed in our case.
There is no well-being without oral health: a case report of Lemierre's syndrome due to neglected odontogenic infection
Authors: Edward Davis, Ardeno Kristianto, Andrew Jackson Yang
Journal: J Vasc Bras (2024)
Keywords: lemierre’s syndrome, anticoagulant, dental infection, septic thrombophlebitis
MeSH terms: Case Reports

Lemierre's syndrome is marked by presence of septic thrombophlebitis in the internal jugular vein. This case report describes a 57-year-old woman who presented with a progressively swelling neck with onset 1 day prior to admission. She had a history of untreated dental infection. Physical examination revealed slightly increased blood pressure, at 140/80 mmHg, and a painful, erythematous, warm swelling in the mid area of the neck. Ultrasound of the neck revealed occlusive intraluminal thrombus in the right internal jugular vein, a computed tomography (CT) scan with contrast showed that there was a blockage in the right jugular vein. The mainstay treatment for Lemierre's syndrome is antibiotics, while administration of anticoagulants remains controversial. The patient was treated conservatively, with administration of antibiotics and anticoagulant. Several days later the patient's condition had improved significantly, with less pain and reduced swelling.
Acute Ischemic Stroke in an Infant With COVID-19 Infection and Delayed Diagnosis of Neurofibromatosis Type 1
Authors: Asra Akbar, Sean Creeden
Journal: Cureus (2024)
Keywords: cafe-au-lait spots, covid-19, neurofibromatosis, neurofibromatosis type 1, pediatric stroke, sars-cov-2 (severe acute respiratory syndrome coronavirus-2)
MeSH terms: Case Reports

Acute ischemic stroke is an uncommon presentation in the pediatric population as compared to the elderly population. COVID-19 infection is associated with several neurological manifestations, with ischemic strokes being underrecognized. Cerebrovascular events associated with COVID-19 may be due to systemic inflammation and hypercoagulable state. Neurofibromatosis type 1 (NF1) is an inherited multisystem disorder caused by dominant loss-of-function mutations of the tumor-suppressor gene neurofibromin 1, which is located at 17q11.2.1. NF1 is associated with multiple cerebrovascular abnormalities, including internal carotid artery occlusion. A review of the current literature on manifestations of COVID-19 in the pediatric population, including stroke and seizures, is also provided in this case report. A brief review of the literature on neurofibromatosis and the risk of stroke as well as other clinical manifestations is also included as a part of this case report. This case illustrates the importance of recognizing acute and rare complications of neurofibromatosis. Cerebral vasculopathy is an important but underrecognized complication of NF1. Children with neurofibromatosis and hypertension require a thorough and complete neurologic evaluation. This case describes a young infant with a delayed clinical diagnosis of NF1 who was presented with viral manifestations of COVID-19 infection and was diagnosed with a large middle cerebral artery stroke.
Carbapenem-Resistant Acinetobacter baumannii Bloodstream Infection in a Ghanaian Patient with Unilateral Diaphragmatic Eventration and HIV Type 1 Infection
Authors: Yvonne Ayerki Nartey, Augustine Boakye Donkor, Ampem Darko Jnr Siaw, Oluwayemisi Esther Ekor, Bashiru Babatunde Jimah
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

Carbapenem-resistant Acinetobacter baumannii infection is a critically prioritized pathogen by the World Health Organization and a cause for growing concern due to increased mortality among hospitalised patients. Phrenic nerve palsy is a rare complication of herpes zoster infection of the C3, C4, and C5 nerve roots. We present a case of bloodstream carbapenem-resistant A. baumannii infection in a Ghanaian patient with HIV type 1 infection and multiple risk factors, including unilateral diaphragmatic eventration with compression atelectasis likely secondary to phrenic nerve palsy due to herpes zoster infection, consequently leading to recurrent hospital and ICU admission. In this case, we emphasize the need for clinicians in LMICs to be aware of CRAB, in order to advocate for the availability of evidence-based medicines in resource-limited settings for appropriate treatment. In addition, we illustrate the importance of a high index of suspicion for infection with carbapenem-resistant organisms such as A. baumannii and highlight a rare and severe complication of herpes zoster infection in the form of phrenic nerve palsy and consequent diaphragmatic eventration.
Case report: A novel case of COVID-19 triggered tumefactive demyelinating lesions in one multiple sclerosis patient
Authors: Jinghan Hu, Leiyun Huang, Zengyun Qiu, Yongzhen Liu, Kaiming Shen, Bin Tang, Jing Qian
Journal: Front Neurosci (2023)
Keywords: covid-19, sars-cov-2, multiple sclerosis, teriflunomide, tumefactive demyelinating lesions
MeSH terms: Case Reports

The epidemic of COVID-19 is mainly manifested by respiratory symptoms caused by SARS-CoV-2 infection. Recently, reports of central nervous system diseases caused or aggravated by SARS-CoV-2 infection are also increasing. Thus, the COVID-19 pandemic poses an unprecedented challenge to the diagnosis and management of neurological disorders, especially to those diseases which have overlapping clinical and radiologic features with each other. In this study, a 31-year-old female patient had been diagnosed with relapsing-remitting multiple sclerosis (RRMS) initially and subsequently developed tumefactive demyelinating lesions (TDLs) following an infection with SARS-CoV-2. After immunotherapy (glucocorticoid pulses), a significant improvement was observed in her both clinical and radiological characteristics. The patient was started on disease-modifying therapy (DMT) with teriflunomide after cessation of oral glucocorticoids. Following two months of DMT treatment, the imaging follow-up revealed that the patient's condition continued to deteriorate. This case was characterized by the transformation of a multiple sclerosis patient (MS) infected with SARS-CoV-2 into TDLs and the ineffectiveness of DMT treatment, which added complexity to its diagnosis and treatment. The case also gave us a hint that SARS-CoV-2 has a potential contributory role in inducing or exacerbating demyelinating diseases of the central nervous system that warrants further investigation.