OpenMed/multicare-articles huggingface dataset:
Carpal tunnel syndrome caused by a vascular malformation in a 48-year-old woman
Authors: Shinsuke Morisaki, Shinji Tsuchida, Ryo Oda, Hiroyoshi Fujiwara
Journal: Int J Surg Case Rep (2020)
Keywords: carpal tunnel syndrome, nerve compression, vascular malformation
MeSH terms: Case Reports

Introduction:
Vascular malformation can present as nerve compression syndrome in middle age due to slow lesion growth, after first appearing in childhood. In a case of vascular malformation involving the peripheral nerve, surgical resection may cause uncontrollable hemorrhage and further nerve compression. Therefore, a more conservative approach is needed in such cases.
Case presentation:
A 48-year-old woman complained of pain and paresthesia of the fingers, and was diagnosed with a large vascular malformation expanding from the proximal forearm to the palm on MRI. Because of the size of the lesion and involvement of soft tissue, resection had a risk of major hemorrhage and incomplete removal. Thus, carpal tunnel release was performed as a less invasive procedure, and was effective for reducing pain while avoiding the risks associated with resection.
Discussion:
Our case indicates that a vascular lesion is a possible cause of nerve compression in the carpal tunnel. Finger numbness and pain were caused by this nerve compression, but the lesion itself was not painful. The median nerve was separate from the venous structure, and the case was diagnosed as an extraneural type.
Conclusion:
Symptoms that develop in middle age due to an extraneural vascular malformation in the carpal tunnel can be treated successfully using carpal tunnel release, instead of more invasive resection of the lesion.
Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome
Authors: Dongdong Wang, Mengmeng Zhang, Haixia Guan, Xiaoli Wang
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: case report, next generation sequencing, osteogenesis imperfecta, pituitary stalk interruption syndrome, skeletal malformation
MeSH terms: Case Reports

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, characterized by reduced bone content, fractures and skeletal malformation due to abnormal synthesis or dysfunction of type I collagen protein. Pituitary stalk interruption syndrome (PSIS) is usually associated with environmental and hereditary factors. Here, we report a rare case of OI and PSIS co-occurrence. A 19-year-old male patient sought treatment for growth delay and absent secondary sexual characteristics. Hormone measurements indicated the presence of hypopituitarism (secondary hypothyroidism, growth hormone deficiency, ACTH-cortisol hormone deficiency, hypogonadotropic hypogonadism). Pituitary magnetic resonance imaging indicated reduced morphology of the anterior lobe, absence of the pituitary stalk, and ectopic displacement of the posterior lobe to the infundibulum, supporting a diagnosis of PSIS. In addition, the patient, his monozygotic twin brother (no evidence of PSIS), and their mother all presented blue sclera and susceptibility to bone fractures before adulthood. Next-generation sequencing demonstrated that the family had compound heterozygous mutations in COL1A1 and COL1A2, with no known mutations related to PSIS, pituitary hormone deficiency (PHD), or holoprosencephaly (HPE). The mother experienced breech and natural delivery of the patient and his brother, respectively. Thus, we deduced that the patient's PSIS might have resulted from breech delivery. Although we cannot exclude the possibility that the proband might have an undetected genetic abnormality causing PSIS or increasing his susceptibility to damage to the hypothalamic-pituitary region due to the limitation of exome sequencing, this rare case suggests that breech delivery in the newborn with OI might be related to PSIS.
Dementia after DBS Surgery: A Case Report and Literature Review
Authors: I Rektorova, Z Hummelova, M Balaz
Journal: Parkinsons Dis (2011)
MeSH terms: Case Reports

We report the case history of a 75-year-old woman with Parkinson's disease who developed severe cognitive problems after deep brain stimulation (DBS) of the bilateral subthalamic nuclei (STN). After a brief cognitive improvement, the patient gradually deteriorated until she developed full-blown dementia. We discuss the case with respect to the cognitive effects of STN DBS and the possible risk factors of dementia after STN DBS surgery.
Case Report: Immune Microenvironment and Mutation Features in a Patient With Epstein-Barr Virus Positive Large B-Cell Lymphoma Secondary to Angioimmunoblastic T-Cell Lymphoma
Authors: Fen Zhang, Wenyu Li, Qian Cui, Yu Chen, Yanhui Liu
Journal: Front Genet (2022)
Keywords: b-cell lymphoma, angioimmunoblastic t-cell lymphoma, case report, immune microenvironment, mutations
MeSH terms: Case Reports

On rare occasions, secondary Epstein-Barr virus (EBV)-associated B-cell lymphoma can develop in patients with angioimmunoblastic T-cell lymphoma (AITL). Here, we describe the tumor microenvironment and mutation features of a patient with EBV + large B-cell lymphoma (LBCL) secondary to AITL. He was admitted to hospital due to a 1-year history of fever and enlarged right inguinal lymph nodes. A biopsy of the right inguinal lymph node demonstrated that numerous diffuse medium-sized atypical lymphocytes proliferated, together with increased extrafollicular follicular dendritic cell meshwork, and the lymphocytes expressed CD3, CD4, BCL6, CD10, PD-1, CXCL13, and Ki-67 (75%). Thus, a diagnosis of AITL was made. However, the disease progressed following treatment by CHOP regimen (cyclophosphamide, adriamycin, vincristine, and prednisone). Biopsy showed that most of the cells were positive for CD20 staining and IgH rearrangement. Analysis of 22 kinds of immune cells showed that the numbers of activated NK cells and activated memory T cells increased, while the T-follicular helper population decreased in the transformed sample. In addition, compared with the primary sample, RHOA (G17V) mutation was not detected, while JAK2 and TRIP12 gene mutations were detected in the transformed sample. Overall, we described the immune microenvironment and mutation features of a patient with EBV + LBCL secondary to AITL. This study will help us to understand the mechanisms by which AITL transforms to B-cell lymphoma.
Electroporation therapy in soft tissue sarcoma: a potentially effective novel treatment
Authors: Remco de Bree, Bernard M Tijink, Cees J van Groeningen, C René Leemans
Journal: Sarcoma (2006)
MeSH terms: Case Reports

Purpose. Examination of the potential of electroporation therapy (EPT) in a patient with metastatic soft tissue sarcoma. Patient. A 24-year-old male who underwent extensive resection and postoperative radiotherapy for a malignant peripheral nerve sheath tumor in the right infratemporal fossa with intracranial extension and invasion of the maxillary sinus and mandible had a recurrence in the scar of his craniotomy for which he was initially treated with doxorubicin. After discontinuation of doxorubicin he developed a metastatic mass at the same site for which he was treated with electroporation therapy. Method. The subcutaneous metastasis was infiltrated with bleomycin and electroporated. Results. Gradually the tumor became increasingly necrotic and demarcated from surrounding tissue. After 10 weeks no tumor was seen anymore. The wound healed secondarily. Discussion. Intralesional bleomycin followed by EPT is potentially effective, well tolerated, and easy to perform in well accessible soft tissue sarcoma sites.
Transcatheter Aortic Valve Implantation in an Extremely Tortuous S-Shaped Aorta
Authors: Shuangbo Liu, Olga Toleva, Amir Ravandi, Zlatko Pozeg, Alan Menkis, Malek Kass
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Transcatheter aortic valve implantation (TAVI) has emerged as an alternative technique to treating aortic stenosis in patients with high surgical risk. We present a case of a successful transfemoral TAVI in a high-risk patient with an extremely tortuous iliofemoral system and a significant S-type bend in the descending aorta. With careful preprocedure planning and using all the techniques available, TAVI can be performed in the most challenging patients.
Management of large congenital parameatal cyst: Observation or intervention? (Case Report)
Authors: Christopher A Christensen, Veronica Mugarab-Samedi
Journal: Int J Surg Case Rep (2020)
Keywords: congenital, neonate, parameatal cyst
MeSH terms: Case Reports

Introduction:
A parameatal urethral cyst is a rare finding in an otherwise well child. They can present as either congenital malformations or as a finding later in life, and may occur either unilaterally or bilaterally on the glans penis. Though they are benign, possible complications include impaired urinary stream flow, dysuria, or hindered cosmesis.
Presentation of case:
We report a spontaneous resolution of large congenital parameatal cyst in an otherwise healthy neonate whose mother had a recent history of urinary tract infection. A spontaneous resolution of the cyst was reported at the age of one month.
Discussion:
A small parameatal cysts have shown spontaneous resolution approximately 25% of the time. Treatment options should not include aspiration or marsupialization as many cases have shown recurrence. The role of antenatal infection in development of parameatal cyst not yet been determined.
Conclusion:
A large parameatal cyst could resolve spontaneously, routine observation recommended for majority of cases.
Successful Clipping of a Giant Anterior Inferior Cerebellar Artery Aneurysm with Combined Transpetrosal Approach
Authors: The-Hao Nguyen, Van-Thanh-Cong Pham, Quynh-Trang Pham, Hao Nguyen Si Anh, Phong Tran Nhu, Hoang-Long Vo
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

Background:
The anterior inferior cerebellar artery (AICA) aneurysms are rare lesions whose treatment can be challenging. There are only a few previous reports of surgical treatment for such lesions.
Objectives:
We present a case of a basilar-AICA aneurysm undergoing surgery with the combined transpetrosal approach.
Case description:
A 58-year-old female patient presented clinical signs including headache, diplopia, and right hemiparesis. The radiological imaging showed a basilar-AICA aneurysm measuring 25 × 19 mm. The patient was operated via left combined transpetrosal approach. The outcome was graded mRankin 1. Follow-up computerized tomographic angiography showed no aneurysmal residual and total preservation of basilar artery.
Discussions:
Surgical indication's purposes were aneurysmal elimination and reduction of mass effect. Combined transpetrosal approach: proximal segment control and enough space for clipping manipulation. Clipping techniques: Temporary clip for aneurysmal collapsing, "orienting clip".
Conclusion:
Giant basilar-AICA aneurysm is very rare lesion. Combined transpetrosal approach is appropriate for surgical clipping. Good surgical outcome is achieved with complete elimination of aneurysm.
Sarcomatoid carcinoma of the urinary bladder treated with adjuvant radiotherapy: a case report
Authors: Cem Onal, Berrin Pehlivan, Nebil Bal, Erkan Topkan, Ferhat Kilinc, Savas Topuk
Journal: Clin Med Case Rep (2009)
Keywords: bladder, radiotherapy, sarcomatoid carcinoma, surgery
MeSH terms: Case Reports

Sarcomatoid carcinoma is a rare tumor of the urinary bladder accounting for less than 0.5% of all primary urinary bladder tumors. Since the patients were presented with large tumor with extended stages, outcome was found to be poor. In order to improve local control, adjuvant local treatment may be practical. We report a rare case with sarcomatoid carcinoma of the urinary bladder diagnosed with immunuhistochemical (IHC) study and treated with 3D-conformal radiotherapy (3DCRT) post-operatively. A 55-year old female patient complained about painless hematuria for 2 months. Computed tomography of the pelvic region revealed tumor and wall thickening at the left posterolateral side of the bladder. Total cystectomy with lymph node dissection and total abdominal hysterectomy and bilateral salphingo-oopherectomy was performed and histopathological and immunohistochemical findings strongly correlate with sarcomatoid carcinoma. The patient was treated with 3D conformal radiotherapy (3DCRT) with a total dose of 59.4 Gy with 1.8 Gy fractional daily doses. Patient was alive without any local recurrence and distant metastasis 10 months after surgery.
Unusual Late Relapse of ALK-Positive Anaplastic Large Cell Lymphoma Successfully Cleared Using the ALK-Inhibitor Crizotinib: Case Report
Authors: Dennis Christoph Harrer, Karin Menhart, Stephanie Mayer, Wolfgang Herr, Albrecht Reichle, Martin Vogelhuber
Journal: Front Oncol (2020)
Keywords: alk, anaplastic large cell lymphoma, crizotinib, hematology, relapse
MeSH terms: Case Reports

Anaplastic large cell lymphoma (ALCL) with ALK-translocation constitutes an aggressive lymphoma with high sensitivity to anthracycline-based chemotherapy. Relapse, however, is observed in about one-third of patients. Salvage treatment incorporates high-dose chemotherapy followed by autologous or allogeneic stem cell transplantation, treatment with the CD30-specific immunoconjugate Brentuximab vedotin (BV) and the use of ALK-inhibitors, such as crizotinib. In this case report, we present a patient with a rare late relapse of ALK-positive ALCL following chemotherapy, who was neither eligible for high-dose chemotherapy nor treatment with BV. Relapse therapy was carried out with daily crizotinib, which rapidly mediated complete regression of all ALCL manifestations. In light of few clinical trials published on the use of crizotinib against ALCL, we want to further substantiate the efficacy of crizotinib as salvage therapy in patients with relapsed ALCL especially if ineligible for high-dose chemotherapy or BV treatment. Finally, we would like to enhance vigilance for potential late relapse of ALCL more than a decade after frontline treatment.
Real-World Treatment Patterns and Survival Outcome in Advanced Anaplastic Lymphoma Kinase (ALK) Rearranged Non-Small-Cell Lung Cancer Patients
Authors: Christian Britschgi, Alfredo Addeo, Markus Rechsteiner, Raphaël Delaloye, Martin Früh, Giulio Metro, Marco Banini, Oliver Gautschi, Sacha I Rothschild, Peter J Wild, Giuseppe L Banna, Alessandra Curioni-Fontecedro
Journal: Front Oncol (2020)
Keywords: alk-rearranged non-small cell lung cancer, nsclc, overall survival, real world data, targeted therapy
MeSH terms: Case Reports

Introduction: Survival of ALK-rearranged NSCLC patients has dramatically improved by the use of multiple ALK-tyrosine kinase inhibitors (ALK-TKI). However, still little is known about the impact of drug sequencing and clinical features on survival in a real-world setting. Methods: Patients with stage IV ALK-rearranged NSCLC treated at six centers in Switzerland and Italy were identified and standard clinical variables collected. OS curves were constructed using the Kaplan-Meier method and compared with the log-rank test. Multivariate Cox proportional hazard analysis was applied to determine the correlations between clinical features and OS. In four patients, biopsies were subjected to NGS. Results: One-hundred and twenty-one patients with stage IV ALK-rearranged NSCLC diagnosed between 2011 and 2016 were included. With a median follow-up time of 39.5 months, the median OS from diagnosis of stage IV disease was 48.0 months. First-line treatment consisted of an ALK-TKI in 24% of patients, with crizotinib in 83% of them. Chemotherapy as first-line treatment did not influence OS (p = 0.955). The use of more than one ALK-TKI line positively correlated with OS (p = 0.016), as well as the use of alectinib or lorlatinib in any treatment line, as compared to the use of crizotinib ± ceritinib (p = 0.022). A never smoking history was an independent prognostic factor for OS (p = 0.032). Moreover, treatment with alectinib significantly improved OS. Conclusions: Targeted treatment for ALK-positive NSCLC patients lead to prolonged OS. Smoking status was a negative independent prognostic factor in a multi-variate analysis. The use of alectinib or lorlatinib in any treatment line improved overall outcome.
Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome
Authors: Seoyun Jang, Yo Han Ahn, Jung Min Ko, Jae Sung Ko, Sojung Lim, Hee Gyung Kang
Journal: Front Pediatr (2022)
Keywords: lmna, tgf - β1, atypical progeroid syndrome, focal segmental glomerular sclerosis (fsgs), lipodystrophy
MeSH terms: Case Reports

Atypical progeroid syndrome (APS) is a rare type of progeroid syndrome mainly caused by heterozygous missense mutations in the LMNA (MIM 150330) gene. APS has heterogeneous clinical manifestations, and its kidney manifestations, particularly in children, are rarely documented. Here, we report the first pediatric case of APS with focal segmental glomerulosclerosis (FSGS). A 10-year-old boy with progeroid features was referred to the nephrology clinic because of hyperuricemia. He had dark skin, protruding eyes, and beaked nose and was very thin, suggesting lipodystrophy. He had been treated for recurrent urinary tract infection during infancy, and liver biopsy for persisting hepatitis showed steatohepatitis. He also had hypertrophic cardiomyopathy (HCMP) with mitral and tricuspid valve regurgitation. Genetic studies were performed considering his multisystem symptoms, and he was diagnosed as having APS according to exome sequencing findings (c.898G > C, p.Asp300His of LMNA). During the first visit to the nephrology clinic, he had minimal proteinuria (urine protein/creatinine ratio of 0.23 mg/mg), which worsened during follow-up. In three years, his urine protein/creatinine ratio and N-acetyl-b-D-glucosaminidase/creatinine ratio increased to 1.52 and 18.7, respectively. The kidney biopsy result was consistent with findings of FSGS, peri-hilar type, showing segmental sclerosis of 1 (5%) glomerulus out of 21 glomeruli. An angiotensin receptor blocker was added to manage his proteinuria. This is the first pediatric report of FSGS in an APS patient with confirmed LMNA defect, who manifested progeroid features, lipodystrophy, HCMP with heart valve dysfunction, and steatohepatitis. Our case suggests that screening for proteinuric nephropathy is essential for managing APS patients since childhood.
Severe Erosive Pill Esophagitis Induced by Crizotinib Therapy: A Case Report and Literature Review
Authors: Patrick Jung, Kyle J Fortinsky, Zane R Gallinger, Piero Tartaro
Journal: Case Rep Gastrointest Med (2016)

Previous case reports have described esophagitis thought to be secondary to crizotinib, an oral tyrosine-kinase inhibitor used in the treatment of anaplastic lymphoma kinase- (ALK-) positive non-small cell lung cancer (NSCLC). In those reports, the interval development of esophagitis was between two days and three months after initiating or reinitiating crizotinib therapy. We present a woman who developed ulcerative esophagitis ten months after beginning crizotinib therapy, which is highly unusual. We believe the provoking factor was a change in her medication administration routine, done to accommodate religious practices during the period of Ramadan. This case illustrates the mechanism of pill esophagitis and reinforces the importance of patient education when it comes to medication administration. Clinicians may consider early imaging or investigations in patients with concerning symptomatology in the context of crizotinib therapy or other offending medications. Future research may help to uncover additional risk factors for this exceedingly rare diagnosis in this patient population. Most importantly, this case highlights nonpharmacologic ways to improve tolerability and decrease adverse effects of a highly effective chemotherapeutic agent.
Demyelinating Changes Alike to Multiple Sclerosis: A Case Report of Rare Manifestations of COVID-19
Authors: Fatemeh Yavari, Sara Raji, Fatemeh Moradi, Morteza Saeidi
Journal: Case Rep Neurol Med (2020)
MeSH terms: Case Reports

COVID-19, as a global concern and pivotal issue in the healthcare system, could have various presentations, leading to difficulty in diagnosis and management. Neuroinvasive potency, as claimed by preliminary studies, is a considerable pathogenesis. Serious neurological disorders like multiple sclerosis (MS) were out of the blue to be the first demonstration of COVID-19. This report highlights the representation of MS in a young woman, which resulted in a COVID-19 diagnosis.
HbS-Sicilian ( δβ)0-Thalassemia: A Rare Variant of Sickle Cell
Authors: Grace Onimoe, Genine Smarzo
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). Sickle-(δβ)0-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with sickle hemoglobin, HbS), sparsely reported in literature, and has been associated with symptomatology necessitating careful monitoring and follow-up. We describe a patient who presented with a newborn screen reported as "FS" and a negative family history for sickle cell disease and sickle cell trait. Subsequent gene sequencing studies demonstrated the presence of Sickle-(δβ)0-thalassemia. Clinical course has remained relatively stable for this patient now at 18 months of age without any SCD related symptomatology or complications. As this is a rare variant of SCD with potential complications, it is important to establish diagnosis towards planning comprehensive care.
A Deceptively Unremarkable Standstill: A Case Report of a Rare Cardiac Electrophysiologic Event
Authors: Kofi Seffah, Walter Y Agyeman, Jaime Cardona, Patrick Berchie
Journal: Cureus (2023)
Keywords: chest pain, recurrent, standstill, syncope, telemetry, ventricular standstill
MeSH terms: Case Reports

Ventricular standstill is a rare cardiac event associated with a high mortality. It is considered a ventricular fibrillation equivalent. The longer the duration, the poorer the prognosis. It is therefore unusual for an individual to have recurrent episodes of standstill and survive, without morbidity and rapid mortality. Here, we report the unique case of a 67-year-old male, previously diagnosed with heart disease, requiring intervention, who lived with recurrent syncopal episodes for a decade. Though such occurrences have previously been documented, we seek to stress the importance of using clinical tools in assessing what could easily have been passed off as orthostatic in origin.