OpenMed/multicare-articles huggingface dataset:
Pleomorphic xanthoastrocytoma with NTRK fusion presenting as spontaneous intracranial hemorrhage-case report and literature review
Authors: Yilong Wu, Sze Jet Aw, Swati Jain, Li Yin Ooi, Enrica E K Tan, Kenneth T E Chang, Harvey J Teo, Wan Tew Seow, Sharon Y Y Low
Journal: Front Pediatr (2024)
Keywords: gene fusion, infantile glioma, pediatric brain tumor, pleomorphic xanthoastrocytoma, spontaneous intracranial hemorrhage
MeSH terms: Case Reports

Background:
Pleomorphic xanthoastrocytoma (PXA) is a rare brain tumor that accounts for <1% of all gliomas. An in-depth understanding of PXA's molecular makeup remains a work in progress due to its limited numbers globally. Separately, spontaneous intracranial hemorrhage (pICH) is an uncommon but potentially devastating emergency in young children, often caused by vascular malformations or underlying hematological conditions. We describe an interesting case of a toddler who presented with pICH, later found to have a PXA as the underlying cause of hemorrhage. Further molecular interrogation of the tumor revealed a neurotrophic tyrosine receptor kinase (NTRK) gene fusion and CDKN2A deletion more commonly seen in infantile high-grade gliomas. The unusual clinicopathological features of this case are discussed in corroboration with published literature.
Case presentation:
A previously well 2-year-old male presented with acute drowsiness and symptoms of increased intracranial pressure secondary to a large right frontoparietal intracerebral hematoma. He underwent an emergency craniotomy and partial evacuation of the hematoma for lifesaving measures. Follow-up neuroimaging reported a likely right intra-axial tumor with hemorrhagic components. Histology confirmed the tumor to be a PXA (WHO 2). Additional molecular investigations showed it was negative for BRAFV600E mutation but was positive for CDKN2A homozygous deletion and a unique neurotrophic tyrosine receptor kinase (NTRK) gene fusion. The patient subsequently underwent second-stage surgery to proceed with maximal safe resection of the remnant tumor, followed by the commencement of adjuvant chemotherapy.
Conclusion:
To date, there are very few pediatric cases of PXA that present with spontaneous pICH and whose tumors have undergone thorough molecular testing. Our patient's journey highlights the role of a dedicated multidisciplinary neuro-oncology team to guide optimal treatment.
Heterotaxy syndrome - An unusual cause for bowel obstruction in an adult
Authors: Radhiya Minty, Tanaka Gomba, Rabia Abid
Journal: SA J Radiol (2024)
Keywords: bowel obstruction, heterotaxy, left isomerism, polysplenia syndrome, situs ambiguous
MeSH terms: Case Reports

Heterotaxy syndrome, also known as situs ambiguous, is a spectrum of pathology due to loss of the normal right-to-left asymmetry of the thoraco-abdominal organs. This report describes the case of a 39-year-old female, previously well, who presented with bowel obstruction. CT showed features of left isomerism, with malrotation and volvulus.
Contribution:
Heterotaxy syndrome consists of cardiac and non-cardiac manifestations. Imaging studies play a crucial role in the individualised management of the patient.
Case Report: Treatment and management of a child at high risk of caries
Authors: Wen Fan, Qianjing Chen, Yushan Zhang, Jixian Feng, Yuankun Zhai, Baojie He
Journal: Front Pediatr (2023)
Keywords: caries management, caries risk assessment, case report, high caries risk, premature eruption
MeSH terms: Case Reports

Introduction:
Caries are at the forefront of childhood diseases. Although childhood caries is usually not life-threatening, it can affect children's dental-maxillofacial development and mental health and place significant financial and psychological burdens on parents. As the focus of childhood dental caries shifts to early diagnosis and prevention rather than restorative dentistry alone, screening children at a high risk of dental caries is urgent. Appropriate caries prevention measures and treatment sequences can effectively reduce the occurrence and development of dental caries in children.
Case:
We report the case of a 7-year-old boy presenting with a high risk of dental caries involving multiple primary teeth and premature eruption of the permanent teeth. We shifted the caries status of the child from high to moderate likelihood. At the 9-month post-treatment follow-up, the patient had no new dental caries, and the length and width of the dental arch were effectively maintained.
Conclusion:
Oral health education, dental plaque removal in a regular basis, and fluoride application contribute to caries management.
Case Report: Bilateral syringocele in an adolescent-area of focus
Authors: I B Osipov, D A Lebedev, A A Uzintseva, N A Sidorova
Journal: Front Pediatr (2023)
Keywords: cowper’s glands, bilateral cowper’s syringocele, bulbourethral glands—abnormalities, congenital urethral anomalies, endoscopic treatment
MeSH terms: Case Reports

Rationale:
Cystic dilatation of the bulbourethral gland duct (Cowper's syringocele, CS) is a rare urethral pathology. No more than 150 cases of CS have been reported in the literature, of which the vast majority are children with a unilateral location. Bilateral CS has been reported in eight cases; however, detailed anatomy and clinical manifestations have not been reported. In this study, we report a case of bilateral CS with cavity junctions through the medial septum and its successful minimally invasive treatment in an adolescent.
Case presentation:
A 16-year-old adolescent patient complained of painful urination and post-micturition urinary dribbling. Magnetic resonance imaging (MRI), urethrography, and ureteroscopy data enabled the establishment of the diagnosis and determination of the type of CS. The surgical treatment that was performed was endoscopic marsupialization of both CS chambers. At follow-up examination after 7 months, the complaints had ceased, and there was complete normalization of urination. The maximum flow rate during uroflowmetry was 35 ml per second, on voiding cystourethrography, the residual cavities were not contrasted, and there was no residual urine or bacteriuria.
Conclusion:
MRI and retrograde urethrography made it possible to visualize changes in the bulbous part of the urethra, and ureteroscopy was the leading imaging modality. These studies was applied precisely because of the suspicion of the presence of a cavity communicating with the urethra. Minimally invasive surgical treatment for double-chamber CS was successful with no resulting complications.
A case report of a rapidly growing giant coronary pseudoaneurysm: challenges and lessons learned
Authors: Hani J Alturkmani, Srikanth Vallurupalli, Malek Al-Hawwas, Kristofer T Freeland, Barry F Uretsky
Journal: Eur Heart J Case Rep (2024)
Keywords: cardiac surgery, case report, coronary pseudoaneurysm, coronary stenting, percutaneous coronary intervention
MeSH terms: Case Reports

Background:
Coronary pseudoaneurysm is a rare, potentially fatal, complication of coronary intervention. A challenging management case of a giant right coronary pseudoaneurysm is presented.
Case summary:
A 56-year-old man presented with an atypical presentation for ST-elevation myocardial infarction. Initial angiogram showed a crescent-shaped ostial lesion with probable connection to the aorta, which disappeared after placing a drug-eluting stent. A few hours later, patient was found to have staph aureus bacteraemia and infective endocarditis for which he received a prolonged antibiotic course. Patient presented a few weeks later with second degree heart block. Echocardiography showed a large cystic lesion adjacent to the right coronary cusp suspicious for a coronary pseudoaneurysm, which was confirmed with angiography. Attempts to treat it with a covered stent were unsuccessful and patient ultimately underwent surgical resection.
Discussion:
Coronary pseudoaneurysm develops when there is a contained breach of all three layers of the vessel. It may develop from direct iatrogenic trauma to the vessel wall but can be infectious in aetiology. The treatment approach remains uncertain due to limited evidence. Here, we present the diagnostic and technical challenges of managing such an uncommon entity and discuss an algorithm for management.
Multimodality imaging assessment of primary pericardial rhabdomyosarcoma: a case report
Authors: Xingxuan Li, Yukun Cao, Guozhu Shao, Yue Cui, Yumin Li, Kailu Zhang, Xiaoqing Liu, Heshui Shi
Journal: Front Cardiovasc Med (2023)
Keywords: pet-ct, cardiac magnetic resonance, cardiac tumor, echocardiography, rhabdomyosarcoma
MeSH terms: Case Reports

Primary pericardial sarcomas are rare and lethal diseases. To date, only a few cases of primary pericardial sarcomas, such as rhabdomyosarcoma (RMS), have been reported. Since the unusual location of RMS in the pericardium makes it challenging to diagnose, precise diagnostic procedures are required. In this study, we present the case of a 23-year-old man who experienced postprandial obstruction and atypical precordial pain that lasted for a week. Echocardiography revealed a heterogeneous isoechoic pericardial mass with a significant pericardial effusion. Contrast-enhanced CT revealed a massive pericardial effusion along with an irregular, defined, heterogeneously enhancing mass that was located between the pericardium and diaphragm. PET-CT imaging showed an intense FDG uptake in the pericardial mass. Furthermore, cardiac MRI demonstrated malignant characteristics of the pericardial mass and provided a detailed visualization of its exact anatomical connection with both cardiac and extracardiac structures. Finally, a pathologic examination of a puncture biopsy specimen confirmed the diagnosis of primary pericardial RMS. Our case emphasizes the importance of multimodal imaging for the differential diagnosis and evaluation of cardiac involvement, while providing clinicians with crucial information for clinical treatment and decision-making.
Drug-Induced Erythema Multiforme
Authors: Peeyush Shivhare, Naqoosh Haidry, Anka Sharma, Deepali Agrawal, Abhishek Gupta, Shalini Subramanyam
Journal: Case Rep Dermatol Med (2023)
MeSH terms: Case Reports

Erythema multiforme (EM) is an acute inflammatory, mucocutaneous, psychosomatic, and vesiculobullous condition that varies from minor to major forms. The acral distribution of target lesions is a characteristic of this condition. The aetiology of erythema multiforme is multifactorial. 90% of the cases are triggered by a herpes infection, whereas 10% occur secondary to drug intake. The offending drugs include nonsteroidal anti-inflammatory drugs, antibiotics, and anticonvulsants. The present case series discusses four cases of drug-induced erythema multiforme and their management.
2-Year survival benefit from immunotherapy for squamous cell cancer with cancer of unknown primary in mediastinum: a case report
Authors: Wei Zhao, Nan Zhao, Manze Zhang, Zhihua Li, Ning Wang, Wennan Shen, Yuemei Dong, Yanli Nie, Zhaoxia Li
Journal: Front Oncol (2023)
Keywords: cancer of unknown primary, case report, immunotherapy, mediastinum metastasis, squamous cell cancer
MeSH terms: Case Reports

Cancers of unknown primary (CUP) account for 2%-5% of all diagnosed cancers and are always characterized with fast-paced aggression, early metastasis, and unpredictable spread patterns Mediastinum metastasis with unknown primary origin is extremely rare and with a poor prognosis and short survival. There is no literature to refer to for its treatment. Here, we reported a case of squamous cell CUP in the mediastinum. A 50-year-old male patient was admitted after multi-line treatment of low differentiated squamous cell carcinoma in the mediastinum diagnosed 8 months before. In August 2019, the patient went to a local hospital for cough and dyspnea for 2 weeks. Then, he was diagnosed with squamous cell carcinoma of unknown primary origin with multiple lymph nodes metastasis. The patient was featured with programmed cell death-ligand 1 (PD-L1) expression strongly positive in 90% of tumor cells and the combined positive score of 90 and a tumor mutation burden of 1.79 MUts/Mb and microsatellite stable phenotype. The patient was treated with anti-programmed cell death-1 (PD-1) antibodies in combination with chemotherapy and responded to the treatment. The patient showed stable disease to multi-line immunotherapy for more than 7 months and finally got a clinical benefit of 2-year survival benefit. In conclusion, immunotherapy targeting PD-1/PD-L1 in combination with chemotherapy may play a crucial role in the later-line treatment and palliative care of CUP.
A pediatric patient with bilateral tracheobronchial foreign body successfully treated using surgical intervention with extracorporeal circulation: case report and literature review
Authors: Li-Qiang Xu, Qiang Liu, Min Zeng, Hui-Zhi Yan, Nan Hu, Qun-Xian Zhang, Qiang Guo, Jia-Long Guo, Jun Zhang
Journal: Front Pediatr (2024)
Keywords: ct, extracorporeal circulation, fiber bronchoscopy, literature review, tracheobronchial foreign body
MeSH terms: Case Reports

Unilateral Tracheobronchial foreign body (TFB) present a common clinical disease, whereas bilateral TFB is a rare and acute condition associated with high mortality rates. This case study discusses a pediatric patient hospitalized due to respiratory distress following accidental ingestion of peanut kernels. A plain chest CT scan revealed obstructive emphysema in the right main bronchus and a foreign body at the opening of the left main bronchus. Surgical removal of the bilateral TFB under extracorporeal circulation resulted in a successful postoperative recovery, leading to discharge on the 9th day. A comprehensive literature search was conducted across databases including PubMed, Web of Science, EMBASE, Cochrane Library, and CNKI, spanning publications from January 2014 to October 2023, utilizing keywords "bronchial foreign body" and "Peanut". After deduplication and relevance screening, 9 pertinent literature sources were included. The objective of this study is to enhance clinical practitioners' understanding of TFB management and improve diagnostic and treatment capabilities through analysis of age of onset, clinical manifestations, diagnosis, and treatment approaches in critically ill pediatric patients.
A novel compound heterozygous variant of ECEL1 induced joint dysfunction and cartilage degradation: a case report and literature review
Authors: Siyuan Jing, Mou Peng, Yuping He, Yimin Hua, Jinrong Li, Yifei Li
Journal: Front Neurol (2024)
Keywords: ecel1, wes, case report, joint disorder, literature review
MeSH terms: Case Reports

Background:
Distal arthrogryposis type 5D (DA5D) represents a subtype of distal arthrogryposis (DA) characterized by congenital joint contractures in the distal extremities. DA5D is inherited in a rare autosomal recessive manner and is associated with the ECEL1 gene. In this report, we describe a case of an infant with bilateral knee contractures and ptosis, caused by a novel compound heterozygous mutation of ECEL1.
Case presentation:
We conducted DNA extraction, whole-exome sequencing analysis, and mutation analysis of ECEL1 to obtain genetic data on the patient. We subsequently analyzed the patient's clinical and genetic data. The proband was a 6 months-old male infant who presented with significant bilateral knee contracture disorders and bilateral ptosis. MRI demonstrated cartilage degradation in knee joint. Whole-exome sequencing of the patient's DNA revealed a compound heterozygous mutation of c.2152-15C>A and c.110_155del in ECEL1. Analysis with the MutationTaster application indicated that c.110_155del was pathogenic (probability = 1), causing frameshift mutations affecting 151 amino acids (p.F37Cfs*151). The truncated protein lost the substructure of a transmembranous site based on the predicted protein crystal structure AF-O95672-F1. The variant of c.2152-15C>A of ECEL1 was also predicted to be disease-causing (probability = 0.98) as it impaired the methylation of ECEL1 serving as an H3K27me3 modification site, which led to the dysfunction of the second topological domain. Therefore, we concluded that the compound heterozygous mutation caused the pathogenic phenotype of this proband.
Conclusion:
The present case highlights the usefulness of molecular genetic screening in diagnosing unexpected joint disorder. Identification of novel mutations in the ECEL1 gene broadens the mutation spectrum of this gene and adds to the genotype-phenotype map of DA5D. Furthermore, rapid whole-exome sequencing analysis enabled timely diagnosis of this rare disease, facilitating appropriate treatment and scheduled follow-up to improve clinical outcomes.
Pediatric acute disseminated encephalomyelitis following asymptomatic coronavirus disease 2019
Authors: Yuta Nakamura, Takahiro Namba, Yukiko Kawazu, Masato Yasui
Journal: IDCases (2024)
Keywords: acute disseminated encephalomyelitis, coronavirus disease 2019, magnetic resonance imaging, myelin-oligodendrocyte glycoprotein antibody, pediatric, severe acute respiratory syndrome coronavirus 2
MeSH terms: Case Reports

After the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) epidemic emerged, the virus spread rapidly worldwide, and outbreaks continued to occur intermittently. Here, we present the case of a 5-year-old boy with acute disseminated encephalomyelitis (ADEM) and initial symptoms of dysphoria and pain in the right lower extremity. Around the time of this episode, the patient exhibited no fever or respiratory symptoms. Brain magnetic resonance imaging (MRI) revealed multiple T2-weighted image/fluid-attenuated inversion recovery high-signal areas bilaterally subcortical to the deep white matter, corpus callosum, and bilateral basal ganglia. MRI of the cervical and thoracic regions indicated a long lesion with continuous T2WI high signal intensity in the central gray matter. Serum aquaporin-4 antibody and serum myelin oligodendrocyte glycoprotein antibody tests were negative and positive, respectively. A polymerase chain reaction test using nasopharyngeal swab fluid upon admission was positive for SARS-CoV-2. Patients with severe coronavirus disease 2019 (COVID-19) in the acute phase may show central nervous system symptoms. There have been no previous reports of ADEM in the subacute phase of COVID-19, lacking symptoms in the acute phase, as in the present case. Notably, ADEM can develop in the subacute phase of asymptomatic COVID-19 infection.
Case report: A rare DLST mutation in patient with metastatic pheochromocytoma: clinical implications and management challenges
Authors: Chang Li, Liang Han, Yuming Song, Rui Liu
Journal: Front Oncol (2024)
Keywords: case report, dihydrolipoamide succinyltransferase, exome sequencing, neoplasm metastasis, pheochromocytoma
MeSH terms: Case Reports

Background:
Pheochromocytoma is one of the most hereditary human tumors with at least 20 susceptible genes undergoing germline and somatic mutations, and other mutations less than 1% -2%. In recent years, other rare mutations have gradually been discovered to be possibly related to the pathogenesis and metastasis of pheochromocytoma. Most patients with pheochromocytoma experience common symptoms like headaches, palpitations, and sweating, while some may have less common symptoms. The diversity of symptoms, genetic mutations, and limited treatment options make management challenging.
Case presentation:
A 53-year-old woman was hospitalized after experiencing episodic epigastric pain for one month. A mass was found in her right adrenal gland and she underwent robot-assisted laparoscopic surgery, revealing a pheochromocytoma. At the 16-month follow-up, multiple metastatic lesions consistent with metastatic pheochromocytoma were found. A germline mutation in the dihydrolipoamide succinyltransferase (DLST) gene (c.330 + 14A>G) was detected, and despite trying chemotherapy and adjuvant therapy, the patient had a limited response with an overall survival of 27 months.
Conclusions:
DLST mutation is one of the rare pheochromocytoma-related mutated genes, and genetic sequencing is crucial for effective clinical management.
Clinical Outcomes of "Paralyzed" Nerve Transfer for Treating Spinal Cord Injury: A Proof of Concept in a Human Model
Authors: Kyle J Chepla, Blake Perkins, Anne M Bryden, Michael W Keith
Journal: Cureus (2024)
Keywords: functional electrical stimulation, hand reconstructive surgery, nerve surgery, peripheral nerve transfers, spinal cord injury
MeSH terms: Case Reports

Functional electrical stimulation (FES) is an option to restore function in individuals after high cervical spinal cord injury (SCI) who have limited available options for tendon or nerve transfer. To be considered for FES implantation, patients must possess upper motor neuron (UMN) type denervation in potential recipient muscles, which can be confirmed by response to surface electrical stimulation during clinical evaluation. Lower motor neuron (LMN) denervated muscles will not respond to electrical stimulation and, therefore, are unavailable for use in an FES system. Previous animal studies have demonstrated that a "paralyzed" nerve transfer of a UMN-denervated motor branch to an LMN-denervated motor branch can restore electrical excitability in the recipient. In this study, we report the indications, surgical technique, and successful outcome (restoration of M3 elbow flexion) after the first "paralyzed" nerve transfer in a human patient.
Upper extremity phlegmasia cerulea dolens complicating supra vena cava embolism in a cervical cancer patient: case report
Authors: Jinting Ge, Chengxin Weng, Jichun Zhao, Ding Yuan, Tiehao Wang
Journal: Front Cardiovasc Med (2024)
Keywords: cervical cancer, phlegmasia cerulea dolens, pulmonary embolism, supra vena cava embolism, upper extremity, venous gangrene
MeSH terms: Case Reports

Phlegmasia cerulea dolens (PCD) is a rare yet severe complication of deep vein thrombosis (DVT), characterized by a high amputation rate and mortality. Early diagnosis and treatment are crucial in managing this condition. PCD predominantly affects the lower extremities rather than the upper extremities. We herein present a rare upper extremity PCD case accompanied with supra vena cava and pulmonary embolism in a cervical cancer patient, who presented to our institution with severe pain, edema and irreversible venous gangrene of right upper limb with no response to anticoagulation therapy. Emergency fasciotomy and amputation were performed due to the progressed venous gangrene, however, the patient developed severe infection and coagulation disorders, gastrointestinal bleeding and disseminated intravascular coagulation after the surgery. Despite medical interventions, her family chose to withdraw treatment and the patient died in ICU at the fourth day following emergency surgery.