OpenMed/multicare-articles huggingface dataset:
Cerebellar encephalitis associated with anti-mGluR1 antibodies: a case report and comprehensive literature review
Authors: Xue Chen, Yanan Chen, Lu Di, Na Liu, Ting Liu, Yun Cai, Weiying Di
Journal: Front Neurol (2024)
Keywords: ebv, anti-mglur1 antibodies, case report, cerebellar encephalitis, literature review
MeSH terms: Case Reports

Anti-metabotropic glutamate receptor 1 encephalitis is an uncommon autoimmune condition characterized by a subacute onset of cerebellar syndrome. Frequently, it also manifests as sleep disorders and cognitive or behavioral changes. While immunotherapy is the primary treatment approach, the disease remains poorly understood. Herein, we present a case of anti-metabotropic glutamate receptor 1 encephalitis, highlighting its primary cerebellar syndrome manifestation. The first magnetic resonance imaging scan showed no obvious abnormality. Lumbar puncture showed increased cerebrospinal fluid pressure, increased white blood cell count and protein level. The next-generation sequencing of cerebrospinal fluid showed Epstein-Barr virus infection, and the patient was diagnosed with viral cerebellar encephalitis. However, antiviral therapy was ineffective. Finally, anti-metabotropic glutamate receptor 1 was measured at 1:1,000, and the patient was definitely diagnosed with anti-metabotropic glutamate receptor 1 encephalitis. Therefore, clinicians should pay attention to such diseases to avoid misdiagnosis.
Noninvasive Techniques for Management of Erythema Multiforme
Authors: Fabiana Martins, Debora Pallos, Jodkandlys Candeia, Rodrigo Zerbinati, Paulo Henrique Braz-Silva, Luana Campos
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

An 18-year-old man was referred for a diagnosis of extensive oral lesions. During the interview, he reported a medical history of ganglionic tuberculosis, type 2 herpes infection, and significant weight loss due to dysphagia. Intraoral exam revealed multiple painful and ulcerated lesions covered by pseudomembrane. Lesions were observed on the labial and buccal mucosa, tongue, and soft palate. The laboratory findings included serum positivity for the Epstein-Barr virus, and salivary tests showed positive values for herpes simplex virus (HSV-2) and human herpesvirus (HHV-7). The diagnostic hypothesis was based on clinical findings and viral infection detected in the saliva, which triggered an immunological disorder, that is, erythema multiforme (EM). The treatment consisted of antimicrobial photodynamic therapy (aPDT), with substantial improvement in pain and healing as seen in the following twenty-four hours. Complete resolution of the lesions was achieved five days after the first session. Once the diagnosis of virus-induced EM was confirmed, noninvasive techniques (e.g., salivary tests and aPDT) were very successful and can be indicated for managing these lesions.
A Rare Presentation of Idiopathic Unilateral Hypertrophic Olivary Degeneration
Authors: Lawrence T Matiski, Anish Bhandari, Hasan T Ozgur, Samuel N Rogers
Journal: Cureus (2024)
Keywords: hypertrophic olivary degeneration, idiopathic hypertrophic olivary degeneration, inferior olivary nucleus, mr brain, nonlesional hypertrophic olivary degeneration, unilateral hypertrophic olivary degeneration
MeSH terms: Case Reports

Hypertrophic olivary degeneration (HOD) is a rare form of trans-synaptic degeneration affecting the inferior olivary nucleus (ION). Its classical description involves a lesion in the Guillain-Mollaret triangle (GMT), characteristic imaging findings, and associated oculopalatal tremor. However, understanding of this disease entity is incomplete, as its overall rarity has limited strong classification. Case reports and small studies indicate that a variety of presentations can occur, including non-existent or non-classical lesions as well as variations in physical symptoms. Here we report the exceedingly rare case of idiopathic, nonlesional, unilateral HOD in a female patient.
Infection with COVID-19 Complicated by Sinus Arrest
Authors: Guojun Zhang, Shuai He, Lu Lin, Pengcheng Gan
Journal: Case Rep Infect Dis (2024)
MeSH terms: Case Reports

As a respiratory tract-transmitted disease, coronavirus disease 2019 (COVID-19) exerts a profound immune injury effect, leading not only to pulmonary impairment but also to cardiac complications. We present a case of a 79-year-old woman, who had previously contracted COVID-19 and subsequently developed sinus arrest (SA) following her second infection. The longest asystole time detected by Holter monitoring was 7.2 seconds. Although the patient met criteria for permanent pacemaker implantation, her family declined this intervention and conservative management was pursued instead. However, after a period of observation, the patient's SA resolved. The present case study describes a patient who experienced SA upon reinfection with COVID-19, which was not present during the initial infection. It emphasizes the impact of COVID-19 on cardiac health, particularly its potential to induce arrhythmias. In addition, it is worth noting that the arrhythmia induced by a COVID-19 infection may show reversibility, suggesting that a permanent pacemaker might not be the priority option if further pacing therapy is being considered.
Novel IKBKG gene mutations in incontinentia pigmenti: report of two cases
Authors: Huaqing Chen, Xiaojuan Ji, Yun Lai, Ling Xie, Chunlei Wan, Longnian Li
Journal: Front Med (Lausanne) (2023)
Keywords: ikbkg gene, gene detection, gene mutation, genotype–phenotype correlation, incontinentia pigmenti
MeSH terms: Case Reports

Incontinentia pigmenti (IP), an X-chromosome dominant genodermatosis caused by mutations in the IKBKG/NEMO gene, is a rare disease affecting the skin, teeth, eyes, and central nervous system. Here, we report two pedigrees of IP and detection of two novel mutations in the IKBKG gene associated with IP via genetic analysis. In addition, different gene mutation types can present with different clinical phenotypes, and the same gene mutation type can show different clinical phenotypes. This study provides clinical cases for further study of the genotype and phenotype of IP and enriches the mutation spectrum of IKBKG gene, which provides a basis for genetic counseling and genetic diagnosis of IP in the future.
Effect of Neuromuscular Training and Neurodynamic Solutions for Asymptomatic Prolapsed Intervertebral Disc and Coexisting Piriformis Syndrome in a 19-Year-Old: A Comprehensive Case Report
Authors: Prajyot Ankar, Grisha R Ratnani, Swapnil U Ramteke, Pratik R Jaiswal
Journal: Cureus (2024)
Keywords: neurodynamic solutions, neuromuscular training, piriformis syndrome, prolapsed intervertebral disc, rehabilitation, sciatica
MeSH terms: Case Reports

This case study examines the treatment journey of a 19-year-old male who presented with bilateral buttock pain, lower limb weakness, and instability caused by piriformis syndrome and asymptomatic Prolapsed intervertebral disc (PIVD) herniation. The intervention strategy was guided by clinical assessments, including neurological and musculoskeletal evaluations, as well as confirmatory magnetic resonance imaging (MRI) findings. The patient's treatment plan adopted a comprehensive approach that incorporated neuromuscular training and neurodynamic solutions. The former focused on strengthening the core and lower limb muscles to correct biomechanical imbalances associated with piriformis syndrome. Concurrently, neurodynamic solutions, such as targeted stretching and mobilization exercises, were employed to alleviate sciatic nerve compression related to asymptomatic PIVD. The results demonstrated significant improvement in symptoms, highlighting the effectiveness of the individualized rehabilitation program. This case report underscores the success of a multifaceted approach in addressing the intricate interaction between muscular and neural components in piriformis syndrome and asymptomatic PIVD. However, further research is necessary to validate the broader applicability of this combined therapeutic strategy.
Transumbilical single-site laparoscopic treatment of small intestinal cavernous hemangioma in child: a case report
Authors: Meng Kong, Weiqiang Liu, Yuexia Bai, Jinhua Jia, Chuanyang Liu, Shisong Zhang
Journal: Front Oncol (2024)
Keywords: cavernous hemangioma, children, laparoscopy, small intestine, surgery
MeSH terms: Case Reports

Background:
While hemangiomas are the most commonly occurring benign vascular tumors, their occurrence in the gastrointestinal system is rare. This case report presents a unique instance of small intestinal hemangioma in a pediatric patient.
Case description:
A 21-month-old girl was admitted to the hospital with a history of "recurrent blood in the stool for one year and anemia for five months." Upon evaluation at our facility, abdominal color ultrasound and enhanced CT scans revealed a protruding mass in the wall of the small intestine, leading to a preliminary diagnosis of small intestinal hemangioma. Subsequent single-site umbilical laparoscopic exploration identified a tumor measuring approximately 6cm×2.5cm×1.2cm on the jejunum wall. Consequently, segmental resection of the intestine was performed, and the postoperative pathological diagnosis confirmed cavernous hemangioma.
Conclusion:
Small intestinal hemangiomas, particularly in pediatric patients, are exceptionally rare and challenging to diagnose as the cause of gastrointestinal bleeding prior to surgery. Hence, small intestinal hemangiomas should be considered in such cases. Laparoscopic surgical resection emerges as the optimal approach for addressing small intestinal hemangiomas.
Case report: Primary sarcoma of the mandible with a novel SLMAP-BRAF fusion
Authors: Peng Zhou, Wei Liu, Jiaoyun Zheng, Haixia Zhang, Jiadi Luo
Journal: Front Oncol (2024)
Keywords: braf rearrangement, ngs, slmap, jaw bone tumor, sarcoma
MeSH terms: Case Reports

Primary sarcomas of the jaw are very rare tumor with unclear mechanism of tumorigenesis. Identification of genetic alterations contributes to better understanding of tumorigenesis and extension of tumor spectrum, as well as potential therapeutic targets application. Herein, we firstly report a case of primary sarcoma in the mandible with novel SLMAP-BRAF fusion. Morphologically, the tumor was composed of histiocyte-like cells, larger epithelioid cells, spindle cells and osteoclast-like giant cells with moderate atypia. Focally, it mimicked tenosynovial giant cell tumor or biphasic synovial sarcoma, and even giant cell tumor of bone. SATB2 was diffusely expressed, while p63 and p16 were locally positive with loss expression of p16 in histiocyte-like and larger epithelioid cells. SLMAP-BRAF (S11:B10) fusion was detected by both DNA and RNA NGS, and further verified by sanger sequencing, DNA electrophoresis and FISH. Then a descriptive diagnosis of BRAF rearrangement sarcoma with moderate-grade malignancy (non-specific type) was given according to the biological behavior, morphological features and gene alteration. The patient finished six cycles of chemotherapy after hemimaxillectomy. Within 7 months of follow-up, no tumor recurrence or metastasis was observed. Our case has enriched the spectrum of jaw bone tumor and BRAF rearrangement tumor.
Uniportal video-assisted thoracoscopic segmentectomy for fetal adenocarcinoma lung cancer with severe pulmonary emphysema: a case report
Authors: Yun-Sheng Wu, Yu-Ting Chen, Jen-Hao Chuang, Hsien-Chi Liao
Journal: Front Oncol (2024)
Keywords: case report, fetal adenocarcinoma, lung adenocarcinoma, pulmonary emphysema, uniportal video-assisted thoracoscopic
MeSH terms: Case Reports

Background:
Fetal adenocarcinoma is a very rare subtype of lung adenocarcinoma. Its incidence ranges from 0.1 to 0.87% among all primary lung neoplasms. Low-grade types tend to appear in the younger generation, and the age ranges from 20 to 50 years with a mean age of around 35 years. Surgical resection is currently the best way to treat fetal adenocarcinoma lung cancer without distant metastasis.
Case report:
This is a 56-year-old female who underwent low-dose computer tomography (LDCT) screening during the health examination. She used to be a heavy smoker for more than 30 years, and the CT images revealed severe bronchiectasis and emphysema. There is a solitary nodule with a diameter of 18.9 x 17.8mm in the central area of the left upper lobe. We decided to conduct left upper lobe S1~S3 segmentectomy under uniportal VATS. The surgery was successful, and the patient was discharged within one week and recovered well. The final diagnosis was fetal adenocarcinoma, low-grade (pT1cN0Mx, stage IA3).
Conclusion:
The first case reported as fetal adenocarcinoma lung cancer who underwent uniportal video-assisted thoracoscopic segmentectomy. We believe it is a safe and feasible procedure for low-grade types fetal adenocarcinoma patient with poor pulmonary function.
The perilous consequences of bowel preparation: a case study with literature review of Boerhaave syndrome
Authors: Ruo-Yu Gao, Xiao-Lan Wei, Jin-Feng Wu, Zhi-Wei Zhou, Xi-Qiu Yu
Journal: Front Med (Lausanne) (2024)
Keywords: boerhaave syndrome, bowel preparation, colonoscopy, mannitol, treatment option
MeSH terms: Case Reports

Colonoscopy is widely acknowledged as a prevalent and efficacious approach for the diagnosis and treatment of gastrointestinal disorders. In order to guarantee an effective colonoscopy, it is imperative for patients to undergo an optimal bowel preparation regimen. This entails the consumption of a substantial volume of a non-absorbable solution to comprehensively purge the colon of any fecal residue. Nevertheless, it is noteworthy to acknowledge that the bowel preparation procedure may occasionally elicit adverse symptoms such as nausea and vomiting. In exceptional instances, the occurrence of excessive vomiting may lead to the rupture of the distal esophagus, a grave medical condition referred to as Boerhaave syndrome (BS). Timely identification and efficient intervention are imperative for the management of this infrequent yet potentially perilous ailment. This investigation presents a case study of a patient who developed BS subsequent to the ingestion of mannitol during bowel preparation. Furthermore, an exhaustive examination of extant case reports and pertinent literature on esophageal perforation linked to colonoscopy has been conducted. This analysis provides valuable insights into the prevention, reduction, and treatment of such serious complications.
A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome
Authors: Yian Gu, Yuanyuan Ye, Hua Shu, Lina Chang, Yinghui Xie, Fengao Li, Tiehong Zhu, Ming Liu, Qing He
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: cdc73 gene, hereditary primary hyperparathyroidism, hyperparathyroidism-jaw tumor syndrome, parafibromin, parathyroid carcinoma
MeSH terms: Adenoma, Fibroma, Hyperparathyroidism / complications, Hyperparathyroidism / genetics, Hyperparathyroidism / surgery, Jaw Neoplasms / complications, Jaw Neoplasms / genetics, Jaw Neoplasms / surgery, Parathyroid Neoplasms / complications, Parathyroid Neoplasms / genetics, Parathyroid Neoplasms / surgery, Case Reports, Research Support, Non-U.S. Gov't, Adult, Humans, Mutation, Tumor Suppressor Proteins / genetics, CDC73 protein, human, Tumor Suppressor Proteins, Hyperparathyroidism 2

Background:
Hereditary primary hyperparathyroidism (PHPT) accounts for 5-10% of all PHPT cases, necessitating genetic testing for diagnosis and management. Among these, hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disorder caused by CDC73 mutations with variable clinical presentations and incomplete symptoms.
Case summary:
The proband, diagnosed with PHPT, underwent parathyroidectomy at the age of 41 with pathological examination of parathyroid carcinoma (PC). Hereditary PHPT was initially suspected due to the early-onset PHPT and family history. Genetic testing identified a heterozygous CDC73 mutation, NM_024529.4: c. 687_688delAG (p. Arg229Serfs*37). Even in the absence of jaw tumors, the diagnosis of HPT-JT was confirmed based on the discovery of renal cysts. A secondary thyroidectomy was performed to reduce the risk of recurrence.
Conclusion:
Genetic testing is strongly recommended in cases of early-onset PHPT, family history, jaw tumors, renal and uterine involvement, atypical parathyroid tumors, and PC. This testing provides valuable information for personalized management, and counseling is available for affected families.
Case report: Multi-antibody-positive myasthenia gravis concomitant myositis associated with thymoma
Authors: Chao Huang, Xuelian Dai, Jiacheng Liu, Yunting Zhang, Bianli Yin, Chao Liu, Xiangyang Ren, Zhihui Duan, Huan Yang
Journal: Front Immunol (2024)
Keywords: acetylcholine receptor antibodies, antisynthetase syndrome, idiopathic inflammatory myopathy, myasthenia gravis, thymoma
MeSH terms: Autoantibodies / blood, Autoantibodies / immunology, Myasthenia Gravis / complications, Myasthenia Gravis / diagnosis, Myasthenia Gravis / immunology, Myositis / complications, Myositis / diagnosis, Myositis / immunology, Thymoma / complications, Thymoma / diagnosis, Thymoma / immunology, Thymus Neoplasms / complications, Thymus Neoplasms / diagnosis, Thymus Neoplasms / immunology, Case Reports, Aged, Female, Humans, Autoantibodies

Myasthenia gravis (MG) and idiopathic inflammatory myopathy (IIM) are autoimmune diseases of the nervous system, and their main clinical manifestation is muscle weakness. The concurrent presence of both conditions in the same patient is clinically rare and easily missed. Here, we report the case of a 74-year-old woman who went to the doctor with fluctuating weakness of the limbs and muscle pain. By analyzing the patient's history and the results of repeated frequency electrical stimulation, chest computed tomography, thigh muscle magnetic resonance imaging, serum antibody detection, lymph node biopsy, etc., she was finally diagnosed with MG-concomitant IIM with squamous cell carcinoma of the thymus. Acetylcholine receptor antibody, titin antibody, ryanodine receptor antibody, anti-JO-1 antibody, and Ro-52 antibody tests were positive. MG-concomitant IIM is often associated with thymoma. The immunopathology mechanism may be different from that of pure MG or IIM, which needs further research.
Surgical Removal of an Orthodontic Mini-Screw Displaced Into the Lateral Pharyngeal Space: A Case Report and Review of Pertinent Literature
Authors: Sameh A Seif, Yaser AlNatheer, Lama Al Bahis, Sundar Ramalingam
Journal: Cureus (2024)
Keywords: fluoroscopy, foreign body displacement, lateral pharyngeal space, orthodontic mini-screw, parapharyngeal space, temporary anchorage device
MeSH terms: Case Reports

Oral and maxillofacial surgeons are often faced with the clinical challenge of foreign body displacement into the perioral tissues and soft tissues of the head and neck. This mainly occurs either because of trauma or inadvertently during dental treatment. In addition to the maxillary sinus, iatrogenic foreign body displacement during dental treatment could happen into one of the 16 distinct fascial spaces of the head and neck region. Commonly displaced foreign bodies related to dental treatment include tooth roots or fragments, local anesthetic needles, implants and restorations. The clinical sequelae of a displaced foreign body depend on its size, shape, anatomic location and proximity to vital structures. Although patients may remain asymptomatic for a considerable amount of time, retained foreign bodies result in persistent pain, recurrent infection and scarring of soft tissue due to inflammation, all of which may complicate delayed retrieval. In addition to the history, imaging modalities such as plain radiographs and computed tomography (CT) help in locating the displaced foreign body and its subsequent retrieval. Surgical retrieval may be attempted through intraoral, transcervical and endoscopic approaches. Additionally, surgery may be aided by real-time imaging such as fluoroscopy. The present report aims to detail a case of inadvertent displacement of an orthodontic mini-screw, commonly used as a temporary anchorage device (TAD), into the lateral pharyngeal space, while attempting placement in the mandibular retromolar area. The case report also describes the surgical retrieval procedure of the TAD screw using an intraoral approach and with fluoroscopy guidance using C-Arm radiographic imaging. This case is reported along with the pertinent review of literature, as it not only explains a rare complication of orthodontic mini-screw placement but also details a modality to remove displaced foreign bodies from fascial spaces of the head and neck, which are otherwise directly inaccessible.
Case report: A novel CACNA1S mutation associated with hypokalemic periodic paralysis
Authors: Evgenii P Nuzhnyi, Alina S Arestova, Alexey V Rossokhin, Anna O Protopopova, Nataliya Yu Abramycheva, Natalia A Suponeva, Sergey N Illarioshkin
Journal: Front Neurol (2023)
Keywords: cacna1s, hypokpp, case report, hypokalemic periodic paralysis, molecular modeling, mutation
MeSH terms: Case Reports

Background:
Hypokalemic periodic paralysis (HypoKPP) is a rare neuromuscular genetic disorder causing recurrent episodes of flaccid paralysis. Most cases are associated with CACNA1S mutation, causing defect of calcium channel and subsequent impairment of muscle functions. Due to defined management approaches early diagnosis is crucial for promptly treatment and prevention new attacks.
Materials and methods:
We report a case of HypoKPP associated with previously unreported mutation in CACNA1S gene (p.R900M). Molecular modeling of CaV1.1 was applied to evaluate its pathogenicity.
Results:
As a patient referred between attacks neurological status, laboratory and neurophysiological examination were unremarkable. Molecular modeling predicted that the p.R900M mutation affects the process of calcium channels activation.
Conclusion:
Novel CACNA1S mutation, associated with HypoKPP was identified. Monte-Carlo energy minimization of the CaV1.1 model supported the association of this mutation with this disease.