OpenMed/multicare-articles huggingface dataset:
Kikuchi-Fujimoto disease evolves into lupus encephalopathy characterized by venous sinus thrombosis: a case report
Authors: Wenyi Qin, Shuangshuang Yang, Lijuan Zhang, Mengqi Liu, Jiayu Tian, Juan Yang, Guoqing Zhou, Xiaofeng Rong
Journal: Front Immunol (2024)
Keywords: kikuchi-fujimoto disease, cerebrovascular disease, necrotizing lymphadenitis, neuropsychiatric lupus, venous sinus thrombotic
MeSH terms: Histiocytic Necrotizing Lymphadenitis / complications, Histiocytic Necrotizing Lymphadenitis / diagnosis, Histiocytic Necrotizing Lymphadenitis / pathology, Lupus Erythematosus, Systemic / complications, Lupus Erythematosus, Systemic / diagnosis, Sinus Thrombosis, Intracranial / diagnosis, Sinus Thrombosis, Intracranial / etiology, Case Reports, Research Support, Non-U.S. Gov't, Adult, Female, Humans

Kikuchi-Fujimoto disease (KFD) is a benign, self-limiting illness that can progress to systemic lupus erythematosus (SLE) in approximately 30% of cases. Neurological injuries can occur in both diseases, albeit with distinct presentations. Venous sinus thrombosis is a serious cerebrovascular complication in patients with neuropsychiatric SLE but is rarely observed in patients with KFD. The involvement of various antibodies, particularly antiphospholipid antibodies, can cause vascular endothelial cell injury, resulting in focal cerebral ischemia and intracranial vascular embolism in SLE. However, there are cases in which thrombotic pathology occurs without antiphospholipid antibody positivity, attributed to vascular lesions. In this report, we present a case of KFD and lupus encephalopathy featuring cerebral venous sinus thrombosis, despite the patient being negative for antiphospholipid antibody. We also conducted a comparative analysis of C3 and C4 levels in cerebrospinal fluid (CSF) and peripheral blood, along with the protein ratio in CSF and serum, to elucidate the pathological changes and characteristics of lupus encephalopathy.
An Autopsy Case of Fulminant Systemic Infection of Clostridium perfringens With a Diverse Role of Toxins in a Healthy Patient
Authors: Ayano Osamura, Hiromi Onizuka, Kenta Masui, Kumiko Murakami, Tomoko Yamamoto, Yoji Nagashima, Munekazu Takeda, Atsushi Kurata
Journal: Case Rep Pathol (2024)
MeSH terms: Case Reports

We herein report an autopsy case of a fulminant Clostridium perfringens (C. perfringens or Welch bacilli) infection in a healthy adult. A 72-year-old, immunocompetent man visited the emergency department with lower back pain, and blood test revealed hemolytic attack. His condition rapidly worsened with severe acidosis and anemia, and he died despite symptomatic treatment. An autopsy examination demonstrated an abscess with necrosis and air spaces in the right lobe of his liver. Numerous Gram-positive bacilli were seen in the liver and bone marrow, and C. perfringens was identified in culture of the antemortem blood sample. Of note, a mucosal epithelium of the ileum showed loss of tight junctions (claudin 4), suggesting the involvement of C. perfringens toxins with its systemic spreading. Welch toxins were suggested to be involved in serious pathological conditions such as hemolytic anemia and systemic infections, and it is necessary to raise Welch infection as one of the differential diagnoses for fulminant systemic infections even in healthy individuals.
Case report: Combination therapy with selinexor, decitabine and half-dose CAG regimen for relapsed elderly acute myeloid leukemia
Authors: Xueya Zhang, Yuqi Sun, Jinfa Zhong
Journal: Front Oncol (2024)
Keywords: decitabine, elderly acute myeloid leukemia, half-dose cag regimen, relapsed, selinexor
MeSH terms: Case Reports

The treatment of elderly patients diagnosed with acute myeloid leukemia (AML) poses significant challenges. Currently, one promising strategy in therapeutic interventions for geriatric individuals revolves around the utilization of small molecule targeted drugs either independently or in conjunction with demethylating agents. In this report, we present the successful attainment of complete remission in an elderly female patient with relapsed AML, the patient underwent treatment with a combination of Selinexor, decitabine, and a half-dose CAG regimen for two cycles. Subsequently, the patient has sustained this remission through consolidation therapy involving a medium dose of Ara-c. This therapeutic regimen has demonstrated favorable outcomes in the management of relapsed AML in elderly individuals. Furthermore, the adverse reactions were manageable. In order to devise an efficacious treatment regimen for elderly patients suffering from relapsed and refractory acute myeloid leukemia, it is imperative to incorporate a larger cohort of cases for clinical investigation.
Littoral cell angioma of the spleen: case report and literature review
Authors: Paulo André Bispo Machado Júnior, Caroline de Oliveira Pereira, Julia Letícia de Bortolo, Ana Luísa Caetano Lopes Martins, Helder Groenwold Campos, Alan Junior de Aguiar, Rayana Pecharki Teixeira Alves Postai, Julio Cesar Wiederkehr, Henrique de Aguiar Wiederkehr
Journal: Einstein (Sao Paulo) (2024)
MeSH terms: Hemangioma / diagnostic imaging, Hemangioma / surgery, Splenic Neoplasms / diagnostic imaging, Splenic Neoplasms / surgery, Review, Case Reports, Adult, Female, Humans, Tomography, X-Ray Computed / methods, Littoral cell angioma of the spleen

Littoral cell angioma is an extremely rare splenic vascular tumor originating from the cells lining the splenic red pulp sinuses. Approximately 150 cases of littoral cell angioma have been reported since 1991. Its clinical manifestation is usually asymptomatic and is mostly diagnosed as an incidental finding through abdominal imaging. Herein, we present a case of littoral cell angioma in a 41-year-old woman with no previous comorbidities, which initially presented as a nonspecific splenic lesion diagnosed on imaging in the emergency room. The patient was treated through laparoscopic intervention.
Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder
Authors: Raúl Villanueva Rodríguez, Alberto Vielma Valdez, Maricruz Cassou Martinez, Laura Leticia Pérez Corrales, Ramón G de Los Santos Aguilar, Luis David Sol Oliva
Journal: Case Rep Endocrinol (2024)
MeSH terms: Case Reports

Case:
We present the case of a woman who, during the neonatal period, presented salt-losing adrenal insufficiency associated with 46 XY gonadal dysgenesis. The genetic study found a steroidogenic acute regulatory protein (StAR) mutation.
Conclusion:
Mutations in StAR result in a nonfunctional protein, which clinically translates into congenital adrenal hyperplasia and, in the case of patients with 46 XY karyotype, is accompanied by gonadal dysgenesis characterized by androgen deficiency, without alterations in anti-Müllerian hormone.
On-Top Osteotomy of the Phalanx Base Combined With Modified Bilhaut: Cloquet Procedure for Atypical Radial Polydactyly
Authors: Akira Kodama, Shigeki Ishibashi, Masaru Munemori, Kentarou Tsuji, Nobuo Adachi
Journal: Cureus (2024)
Keywords: congenital hand, duplicated thumb, modified bilhaut–cloquet procedure, on-top osteotomy, radial polydactyly, triphalangeal thumb
MeSH terms: Case Reports

In this report, we present the combination of on-top plasty with a modified Bilhaut-Cloquet procedure for treating atypical radial polydactyly with duplication at the metacarpophalangeal (MP) joint and triphalangism of the radial and ulnar phalanges, hypoplastic middle phalanx of the radial thumb, and hypoplastic phalanx base of the ulnar thumb. To preserve the stable MP and interphalangeal joints of the radial and ulnar thumbs, respectively, on-top plasty involved osteotomizing the middle phalanx and transferring the distal end of the middle phalanx of the ulnar finger to the phalanx base of the radial thumb. A modified Bilhaut-Cloquet procedure was used to combine the tips and nails of both thumbs. Twelve months postoperatively, good joint alignment and thumb tip appearance were achieved. On-top plasties effectively combined the desirable parts of both thumbs. The modified Bilhaut-Cloquet technique is particularly well-suited for atypical cases, such as the present case.
Profile and outcome of multiple myeloma with and without HIV treated at a tertiary hospital in KwaZulu-Natal, South Africa
Authors: Lungisile Hildegard Chili, Irene Mackraj, Nadine Rapiti
Journal: PLoS One (2023)
MeSH terms: HIV Infections / complications, HIV Infections / drug therapy, HIV Infections / epidemiology, Multiple Myeloma / epidemiology, Case Reports, Research Support, Non-U.S. Gov't, Adult, Female, Humans, Male, Middle Aged, Retrospective Studies, South Africa / epidemiology, Tertiary Care Centers

Objectives:
To profile the outcome of multiple myeloma (MM) patients treated at a South African tertiary hospital in KwaZulu-Natal (KZN) and to compare MM in HIV-negative patients and MM in people living with HIV (PLWH).
Methods:
A retrospective analysis of patients with MM was conducted over 5 years (2015-2020). Patient demographics, presenting complaints, symptom duration, disease stage, molecular profile, treatment, and survival data were captured. Statistical analysis was conducted using R Statistical software of the R Core Team, 2020, version 3.6.3.
Results:
135 patients; 79% (n = 106) HIV-negative and 21% (n = 29) PLWH were investigated. 54% (n = 74) females and 57% (n = 76) 51-70-year-olds. The 40-50-year-old patient group had a significantly higher proportion of PLWH (p = 0.032). Pathological fractures were the commonest presenting complaint, 47% (n = 57 and 49% (n = 49) had International Staging System, stage III disease. Fluorescent in-situ hybridization (FISH) MM profiling was completed in 58% (n = 78). Positivity for del 11q22 was found in 23.7% (n = 14) with significantly more HIV-negative patients having the mutation (p = 0.027). Overall, 42.2% (n = 57) achieved 2-year overall survival (OS). There were no significant differences in treatment (p = 0.926) and 2-year survival outcome (p = 0.792) between the two groups.
Conclusion:
The incidence of HIV in newly diagnosed MM patients in KZN was increasing. KZN patient profile differed from other reports by showing female predominance but was similar in advanced-stage presentation and bone fracture predominance. Statistically significant differences between the HIV-negative patients and PLWH were observed in age distribution and mutational landscape. Further studies are required in this area.
Point of Care Ultrasound as a Key Tool in the Evaluation of a Woman with Syncope
Authors: Katherine Guío Rodríguez, Jenny Del Pilar Rico Mendoza, Elkin René Barrios Peralta
Journal: POCUS J (2024)
Keywords: bedside ultrasonography, cardiac neoplasms, emergency department, intensive care, syncope
MeSH terms: Case Reports

Using point of care ultrasound (POCUS) to evaluate patients with syncope in the emergency department facilitates the timely diagnosis of life-threatening pathologies. Case: A 56-year-old woman presented to the emergency department of a hospital in Bogotá, Colombia, for a syncopal episode. Vital signs, physical examination, electrocardiogram, and routine laboratory tests were normal. Cardiac POCUS was performed, which identified an echogenic mass located in the left atrium, measuring 35x28mm, which in left atrial systole appeared to occupy the entire chamber. She underwent surgical resection of the mass and histopathology revealed atrial myxoma. Conclusions: POCUS was useful in the rapid diagnosis of atrial myxoma in a woman presenting with syncope.
Case report: Off-label use of low-dose perampanel in a 25-month-old girl with a pathogenic SYNGAP1 variant
Authors: Siddharth Gupta, Yun Hwang, Natasha Ludwig, Julia Henry, Shilpa D Kadam
Journal: Front Neurol (2023)
Keywords: syngap1, anti-seizure medication, neurodevelopmental disorder, perampanel, seizures
MeSH terms: Case Reports

Introduction:
Preclinical studies in a mouse model have shown that SYNGAP1 haploinsufficiency results in an epilepsy phenotype with excessive GluA2-AMPA insertion specifically on the soma of fast-spiking parvalbumin-positive interneurons associated with significant dysfunction of cortical gamma homeostasis that was rescued by perampanel (PER), an AMPA receptor blocker. In this single case, we aimed to investigate the presence of dysregulated cortical gamma in a toddler with a pathogenic SYNGAP1 variant and report on the effect of low-dose PER on electroencephalogram (EEG) and clinical profile.
Methods:
Clinical data from physician's clinic notes; genetic testing reports; developmental scores from occupational therapy, physical therapy, speech and language therapy evaluations; and applied behavioral analysis reports were reviewed. Developmental assessments and EEG analysis were done pre- and post-PER.
Results:
Clinically, the patient showed improvements in the developmental profile and sleep quality post-PER. EEG spectral power analysis in our patient revealed a loss of gamma power modulation with behavioral-state transitions similar to what was observed in Syngap1+/- mice. Furthermore, the administration of low-dose PER rescued the dysfunctional cortical gamma homeostasis, similar to the preclinical study. However, as in the epileptic mice, PER did not curb epileptiform discharges or clinical seizures.
Conclusion:
Similar to the Syngap1+/- mice, cortical gamma homeostasis was dysregulated in the patient. This dysfunction was rescued by PER. These encouraging results necessitate further validation of gamma dysregulation as a potential translational EEG biomarker in SYNAP1-DEE. Low-dose PER can be explored as a therapeutic option through clinical trials.
Bevacizumab-Irinotecan combination therapy in recurrent low-grade glioma, previously treated with chemo-radiotherapy: a case report
Authors: Barbara Castelli, Carla Fonte, Milena Guidi, Marco Tellini, Marco Di Nicola, Alessandro Iacono, Anna Maria Buccoliero, Daniela Greto, Lorenzo Genitori, Iacopo Sardi
Journal: Front Oncol (2023)
Keywords: bevacizumab, case report, irinotecan, low-grade gliomas, pilocytic astrocytoma
MeSH terms: Case Reports

Low grade gliomas (LGGs) of pineal region are usually difficult to remove and they frequently relapse or progress after front line chemotherapy. Bevacizumab-Irinotecan (BEVIRI) combination has been successfully attempted in children with recurrent LGGs, in most cases not previously irradiated. The efficacy of bevacizumab has also been described in radiation necrosis. Considering the possible overlapping of radiation treatment effect and disease progression and difficulty in differentiating, we report on the use of BEVIRI in a case of a recurrent relapsing low-grade glioma of the pineal region, subjected to multiple neurosurgical interventions, also treated with a carboplatin-etoposide regimen and a radiation course, at present at one-year follow-up showing a stable response, with no adverse events.
Case Report: Blinatumomab as upfront consolidation and maintenance therapy in a pediatric patient with high-risk B-cell acute lymphoblastic leukemia
Authors: Sumit Gupta, Jessica Casey, Joseph Lasky
Journal: Front Oncol (2023)
Keywords: b-cell acute lymphoblastic leukemia, blinatumomab, case report, maintenance therapy, pediatric
MeSH terms: Case Reports

Introduction:
B-cell acute lymphoblastic leukemia (B-ALL) is the most common malignancy in children. The current conventional chemotherapy regimens have high overall survival but with significant short- and long-term toxicities, sometimes requiring delay and termination of chemotherapy. Bispecific T-cell engager antibody blinatumomab has been successful in achieving bone marrow remission and acting as bridging therapy in minimal residual disease (MRD)-positive relapsed adult and pediatric B-ALL patients. Its role as upfront therapy is being explored. Here, we report the first case to our knowledge showing the feasibility, tolerability, and sustained remission using blinatumomab upfront as consolidation and maintenance therapy for 2 years in a pediatric patient with high-risk B-ALL who had significant toxicities with conventional chemotherapy.
'case presentation:
An 11-year-old Hispanic girl presented with complaints of fever, abdominal pain, and fatigue. On further evaluation, she had tachycardia, pallor, cervical lymphadenopathy, and pancytopenia. Bone marrow studies confirmed high-risk B-ALL. The patient was started on induction chemotherapy per AALL1131. Her induction course was complicated by syncope, febrile neutropenia, and invasive cryptococcal fungal infection. End-of-induction bone marrow results were MRD negative. Further chemotherapy was withheld due to cardiopulmonary and renal failure, along with ventricular arrhythmias requiring intensive care. The patient received two cycles of blinatumomab as consolidation therapy and then transitioned back to conventional consolidation therapy; however, it was terminated mid-consolidation due to Pseudomonas and Aspergillus sepsis. She was then given blinatumomab maintenance therapy for 2 years and tolerated it well without any irreversible toxicity. She had an episode of Staphylococcus epidermidis sepsis and pneumonia treated by antibiotics and a single episode of a seizure while on blinatumomab therapy. At the time of publication, she is 25 months off treatment and in sustained remission without any further transplant or chemotherapy. She received monthly intravenous immunoglobulin G during the blinatumomab maintenance.
Conclusion:
Blinatumomab given upfront as consolidation and maintenance therapy for 2 years in a pediatric high-risk B-ALL patient with significant toxicities to conventional chemotherapy was feasible and very well tolerated without any irreversible toxicity and led to sustained remission without any bridging transplant or further chemotherapy.
Case report: Exploring the utility of whole-body bone scintigraphy for pediatric Langerhans cell histiocytosis: insights from clinical practice
Authors: Wenyu Song, Fan Hu, Wei Shi, Fang Wang, Yongxue Zhang, Xiaoli Lan, Xiaotian Xia
Journal: Front Oncol (2024)
Keywords: 99mtc-mdp, langerhans cell histiocytosis, bone scan, pediatric, skeletal lch
MeSH terms: Case Reports

Purpose:
This mini-review delves into the realm of Langerhans cell histiocytosis (LCH) in children, focusing on its skeletal involvement. By synthesizing pertinent literature, we sought to provide a comprehensive understanding of LCH's clinical and radiographic spectrum. Our study then demonstrates the diagnostic prowess of whole-body 99mTc-methyl diphosphonate (MDP) scintigraphy in LCH cases, underscoring its value in tandem with existing knowledge.
Methods:
Our approach involved an extensive literature review that contextualized LCH within the current medical landscape. Subsequently, we presented a case series featuring five pediatric instances of skeletal LCH, one accompanied by soft tissue infiltration. The principal aim was to illuminate the diagnostic and staging potential of whole-body 99mTc-MDP scintigraphy, augmenting existing insights.
Results:
Through meticulous literature synthesis, we highlighted pediatric LCH's protean clinical manifestations and radiological variability. Aligning with this spectrum, our case series underscored the role of 99mTc-MDP scintigraphy in diagnosing and staging LCH. Among the five pediatric cases, one demonstrated concurrent soft tissue involvement. This aligns with the multifaceted nature of LCH presentations.
Conclusion:
Pediatric LCH can present with a wide range of clinical and radiologic features. By amalgamating our cases with extant literature, we stress the necessity of a multimodal strategy. 99mTc-MDP scintigraphy emerged as an indispensable tool for accurate staging and soft tissue detection. Our findings collectively advocate for a holistic approach to managing LCH, ensuring informed therapeutic decisions for optimal patient outcomes.
Ruptured internal carotid artery aneurysm following surgery for chronic sinusitis: delayed presentation: a case report
Authors: Derar Al-Domaidat, Jamal Jawad
Journal: J Surg Case Rep (2024)
Keywords: chronic allergic fungal rhinosinusitis, endoscopic sinus surgery, fungal aneurysm, internal carotid artery pseudoaneurysm, massive epistaxis, petrous aneurysm
MeSH terms: Case Reports

Rupture of internal carotid artery aneurysm has high mortality rate and needs high index of suspicion for immediate management. Massive epistaxis after rupture of aneurysms in the petrous part of internal carotid artery is extremely rare. In this paper, we report the first case of delayed rupture of a petrous carotid aneurysm which developed because of chronic allergic sinusitis.
Ischemic Stroke as a Form of Presentation of Aortic Dissection: A Case Report
Authors: Noélia Carrillo-Alfonso, Marta Mugeiro, Inês Amado, Ernesto Ruivo, Ana Lares
Journal: Cureus (2024)
Keywords: atypical presentation of aortic dissection, emergency service, ischemic stroke, prehospital emergency medicine, prehospital management
MeSH terms: Case Reports

Aortic dissection is a rare condition with a high mortality rate, the clinical manifestations of which depend on the involvement of aortic branches. We describe the case of a male patient with neurological deficits accompanied by dorsal-lumbar pain and exuberant sympathetic hyperactivity, diagnosed with ascending and descending aorta dissection, initially managed in the prehospital setting. This case reinforces the importance of maintaining high levels of suspicion for rare causes of cerebrovascular accidents.
An Unusual Presentation of Cobblestone Esophagus From Bisphosphonate Use
Authors: Tian Yu Qiu, Yi Yuan Tan, Nicholas Tee Chin Hock, Rajesh R
Journal: Cureus (2024)
Keywords: alendronate, asymptomatic esophagitis, bisphosphonate, cobblestone esophagus, drug-induced esophagitis
MeSH terms: Case Reports

Cobblestone esophagus is a rare finding that has been previously described in cases of eosinophilic esophagitis (EoE), candidiasis, Barrett's esophagus, or severe reflux esophagitis from distal gastrointestinal obstruction. We describe a case of asymptomatic cobblestone esophagus secondary to bisphosphonate use. A 67-year-old female was seen in the clinic for evaluation of microcytic anemia that was incidentally picked up on routine chronic disease follow-up. She had no gastrointestinal symptoms. She has been taking oral alendronate 70mg once a week for osteoporosis since a year ago. Barium meal was performed as the patient initially opted for non-invasive testing, which incidentally showed a diffuse "cobblestone" appearance. Subsequent oesophago-gastro-duodenoscopy (OGD) showed diffuse white nodular lesions along the esophagus with a cobblestone appearance but no ulcer or mass. Segmental esophageal biopsies were negative for fungal stain and did not show any pathology. In the absence of infection, eosinophilic esophagitis, and dysplasia, her "cobblestone" esophagus was attributed to bisphosphonate use by diagnosis of exclusion. Alendronate acid was held off, and serial barium meals over the next year showed significant interval improvement. Bisphosphonates, such as alendronate acid, are commonly associated with drug-induced esophagitis. With the cessation of the offending medication, there was indeed a significant improvement in our patient's serial barium meal. It is important to review the medication list when encountering patients who present with cobblestone esophagus, as some of these patients with drug-induced esophagitis may be asymptomatic clinically.