OpenMed/multicare-articles huggingface dataset:
A Pediatric Case of Glioblastoma Multiforme Associated With a Novel Germline p.His112CysfsTer9 Mutation in the MLH1 Gene Accompanied by a p.Arg283Cys Mutation in the TP53 Gene: A Case Report
Authors: Aleksandra Stajkovska, Sanja Mehandziska, Rodney Rosalia, Margarita Stavrevska, Marija Janevska, Martina Markovska, Ivan Kungulovski, Zan Mitrev, Goran Kungulovski
Journal: Front Genet (2019)
Keywords: li-fraumeni, lynch syndrome, mlh1, north macedonia, tp53, case report, hereditary cancer syndromes, next-generation sequencing
MeSH terms: Case Reports

Targeted gene panel testing has the power to interrogate hundreds of genes and evaluate the genetic risk for many types of hereditary cancers simultaneously. We screened a 13-year-old male patient diagnosed with glioblastoma multiforme with the aim to get further insights into the biology of his condition. Herein, we applied gene panel sequencing and identified a heterozygous frameshift mutation c.333_334delTC; p.His112CysfsTer9 in the MLH1 gene in blood and tumor tissue accompanied by a known heterozygous missense variant of unknown significance c.847C > T; p.Arg283Cys in the TP53 gene. Parental screening revealed the presence of the same TP53 variant in the father and the same MLH1 variant in the mother, who was in fact undergoing treatment for early-stage breast cancer at the time of her son's unfortunate diagnosis. This case reports for the first time the co-occurrence of a genetic mutation in the MLH1 gene of the mismatch repair pathway, commonly associated with the Lynch syndrome, accompanied by a rare variant in the TP53 gene. This report underlines the need for broad panel gene testing in lieu of single-gene or syndrome-focused gene screening and evaluation of the effects of multiple pathogenic or modifier variants on the phenotypic spectrum of the disease.
Odontogenic fibromyxoma of the maxilla: a case report and review of the literature
Authors: Eva-Maria Dietrich, Styliani Papaemmanouil, Giorgos Koloutsos, Hlias Antoniades, Konstantinos Antoniades
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Fibromyxoma represents a rare benign neoplasm that mostly affects the posterior region of the mandible. Here, we report the case of a 46-year-old male with a swelling of the right maxilla. After proper diagnosis, he was treated with enucleation and curettage of the tumor. The defect was filled with a pedicled buccal fat pad flap. The mesenchymal origin from the dental follicle of the fibromyxoma is the most plausible explanation. Radiological examination with MRI, CT, and conventional radiography contributes to the differential diagnosis from other benign tumors, such as the ameloblastoma. Its management is surgical and comprises enucleation and curettage or en bloc resection. Patients must be monitored for at least two years postoperatively in order to diagnose possible recurrence. According to the literature, the maxilla is a rare location of a fibromyxoma and, to our knowledge, our case is the 30th presented case of a fibromyxoma of the maxilla.
Progressive Demyelination in the Presence of Serum Myelin Oligodendrocyte Glycoprotein-IgG: A Case Report
Authors: Sara Gil-Perotin, Jéssica Castillo-Villalba, Joan Carreres-Polo, Arantxa Navarré-Gimeno, Javier Mallada-Frechín, Francisco Pérez-Miralles, Francisco Gascón, Carmen Alcalá-Vicente, Laura Cubas-Nuñez, Bonaventura Casanova-Estruch
Journal: Front Neurol (2018)
Keywords: nmo, cell-based assay, multiple sclerosis, myelin oligodendrocyte glycoprotein, progression, recurrent inflammatory optic neuropathy, spinal cord
MeSH terms: Case Reports

The clinical diagnosis of patients with autoantibodies directed to conformational myelin oligodendrocyte glycoprotein MOG-IgG, can be challenging because of atypical clinical presentation. MOG-IgG seropositivity has been reported in several demyelinating diseases, including relapsing opticospinal syndromes [in the neuromyelitis optica spectrum disorders (NMOSD) and less frequently, in multiple sclerosis (MS)], but it has rarely been associated with the progressive course of disease. To contribute to the characterization of MOG-related demyelination, we describe the case of a patient with progressive demyelinating opticospinal disease, IgG-oligoclonal bands (OCB), and serum MOG-IgG.
Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome
Authors: Xuemei He, Xiuli Ma, Jing Wang, Zhuo Zou, Haoyu Huang, Jian Ren, Chunming Liu, Nan Zheng, Jing Ma, Yun Liu
Journal: Front Behav Neurosci (2022)
Keywords: dna mutation analysis, noonan syndrome with loose anagen hair-2, ppp1cb, developmental delay, next-novel mutation of the ppp1cb gene 2 generation sequencing
MeSH terms: Case Reports

Objective:
To screen and analyze the genetic mutations in the PPP1CB gene in a patient with Noonan syndrome with loose anagen hair-2 (NSLH2) in Yunnan Province, China and explore the possible molecular pathogenesis.
Methods:
After obtaining informed consent, we collected the patient's medical history and carried out physical and laboratory examinations for the NSLH2 proband and the family members. Genomic DNA was extracted from the peripheral blood of all individuals. The coding regions including all pathogenic exons, parts of introns, and promoters of genes were sequenced by next-generation sequencing. Pathogenic mutations, which were detected in the probands and their parents, were verified by Sanger sequencing.
Results:
The clinical manifestations of NSLH2 included prominent forehead, yellowish hair, slightly wide eye distance, sparse eyebrows, bilateral auricle deformity, reduced muscle tension, and cardiac and visual abnormalities. The proband carried a c.371A>G mutation in exon 3 of PPP1CB, which is a missense mutation. This was a de novo mutation as the parents of the proband showed no mutation at this site.
Conclusion:
In this study, we identified a novel mutation of PPP1CB, which enriched the mutation spectrum of the PPP1CB gene and provided a basis for the diagnosis of NSLH2.
A Case Report of a Bilateral Carotid Body Tumor and a Review of Its Imaging Manifestations
Authors: Long Xu, Yao Kang, Xing Wen
Journal: J Belg Soc Radiol (2023)
Keywords: ct, bilateral, carotid body tumor, imaging manifestations
MeSH terms: Case Reports

Bilateral carotid body tumors (CBTs) are extremely uncommon. In recent years, some clinical cases have been documented. A case of bilateral CBT is reported with a review of its imaging manifestations. When a unilateral CBT is discovered, assessment of the contralateral site is essential. The 'goblet' sign is a characteristic imaging feature of CBT. The preferred imaging modality is computed tomography angiography.
Teaching point:
When a carotid body tumor is suspected on one side, careful examinationof the contralateral side is essential; The preferred imaging approach is CTA.
Vitreous Hemorrhage following High-Altitude Retinopathy
Authors: Arjun Shrestha, Rinkal Suwal, Biju Shrestha
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

Purpose:
To report a case of high-altitude retinopathy with vitreous hemorrhage.
Methods:
An apparently healthy 29-year-old boy presented with a history of floater and slight diminution of vision in the left eye after climbing the mountain 4760 meters high.
Results:
The visual acuity at presentation was 20/20 in the right eye and 20/30 in the left eye. Anterior segment findings of both eyes were unremarkable. Fundus evaluation revealed bilaterally dilated major retinal veins. The right eye revealed clear, quiet vitreous, healthy macula, and pink and smooth optic disc. There was fresh vitreous hemorrhage confined just one disc diameter away at the superior and inferior part of the optic nerve in the left eye. The macula and optic nerve head of this eye grossly looked normal. Complete blood count, haemoglobin, ESR, CRP, sugar, renal function test, lipid panel, and serology for HIV, HCV, VDRL, and HBsAg were normal. The Mantoux test and chest X-ray also revealed normal findings. Physician consultation did not reveal other abnormalities. On the 3rd week of follow-up, his vision was 20/20 in both eyes. Fundus examination revealed clear vitreous in both eyes though some venous dilation and tortuosities were still evident in the left eye. A macular OCT scan showed almost normal-appearing fundus.
Conclusions:
Vitreous hemorrhage following climbing high altitude can be one of the manifestations of high-altitude retinopathy.
Superior Vena Cava (SVC) Endovascular Reconstruction with Implanted Central Venous Catheter Repositioning for Treatment of Malignant SVC Obstruction
Authors: Stephanie Volpi, Francesco Doenz, Salah D Qanadli
Journal: Front Surg (2018)
Keywords: central venous catheter protection, endovascular stenting, lung cancer, superior vena cava syndrome, vena cava obstruction
MeSH terms: Case Reports

Superior vena cava (SVC) syndrome is a group of clinical signs caused by the obstruction or compression of SVC and characterized by edema of the head, neck, and upper extremities, shortness of breath, and headaches. The syndrome may be caused by benign causes but most of the cases are caused by lung or mediastinal malignant tumors. Stenting of SVC has become widely accepted as the palliative treatment for this condition in malignant diseases, as it offers rapid relief of symptoms and improves the quality of life. Preserving previously placed central venous catheters (CVCs) is a major issue in this population. We report the case of a patient with SVC syndrome caused by tumoral obstruction due to central small-cell lung cancer who had right subclavian implanted CVC and a preferential head and neck venous drainage through the left internal jugular and brachiocephalic vein (BCV). We describe a complex procedure of SVC reconstruction with two different objectives: left recanalization and stent placement to ensure head and neck venous drainage and right BCV stenting for CVC repositioning and subsequent replacement. We also review published cases of SVC obstructions stenting with catheter repositioning. The patient experienced quick relief of symptoms after treatment. Chemotherapy was rapidly delivered through the preserved implanted CVC access. A 3-month follow-up computed tomography showed stents patency.
De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome
Authors: Rafat Mosalli, Alfia Fatma, Mohammed A Almatrafi, Mayada Mazroua, Bosco Paes
Journal: Case Rep Genet (2022)
MeSH terms: Case Reports

Pfeiffer syndrome (PS) is an autosomal dominant disorder with three subtypes stemming from heterozygous mutations in the fibroblast growth factors FGFR1 and FGFR2. The subtypes overlap with heterogeneous clinical manifestations and variable prognosis dependent on neurological and respiratory compromise that impact short- and long-term outcomes and survival. We present a male, term infant with type II PS that was diagnostically suspected antenatally based on three-dimensional ultrasonographic findings that were confirmed postnatally by craniofacial tomography and magnetic resonance imaging. A new generation sequencing panel identified a unique de novo FGFR2, c.335 A > G p. Tyr112Cys variant, the first of its kind, and features that closely aligned with subtype II PS. Initial molecular results categorized the mutation as nonpathogenic, but it was later reclassified as pathogenic. Antenatal, multidisciplinary parental counseling about the tentative diagnosis and prognosis facilitated postnatal decisions that culminated in an informed choice for palliative care and early demise.
Case Report: A Novel Heterozygous ZP3 Deletion Associated With Empty Follicle Syndrome and Abnormal Follicular Development
Authors: Yongzhe Chen, Zesong Wang, Yueren Wu, Wenbin He, Juan Du, Sufen Cai, Fei Gong, Guangxiu Lu, Ge Lin, Can Dai
Journal: Front Genet (2021)
Keywords: zp3 mutation, empty follicle syndrome, female infertility, follicular development, zona pellucida
MeSH terms: Case Reports

Background: Empty follicle syndrome (EFS) is defined as the complete failure to retrieve oocytes after ovarian stimulation. Although several mutations in ZP1, ZP2, ZP3, and LHCGR have been identified as genetic causes of EFS, its pathogenesis is still not well-understood. Methods: Whole-exome sequencing (WES) was employed to identify the candidate pathogenic mutations, which were then verified by Sanger sequencing. A study in CHO-K1 cells was performed to analyze the effect of the mutation on protein expression. Additionally, immunohistochemistry (IHC) staining was used to examine follicular development and zona pellucida (ZP) assembly in the ovary of an EFS patient. Results: A novel heterozygous deletion in ZP3 (c.565_579del[p.Thr189_Gly193del]) was identified in the EFS patient. It was inherited dominantly and resulted in significant degradation of the ZP3 protein. Oocytes with degenerated cytoplasm and abnormal ZP assembly were observed in follicles up to the secondary stage, and many empty follicle-like structures were present. Conclusion: We identified a novel ZP3 mutation that expands the mutational spectrum associated with human EFS. We also showed the abnormal follicular development and ZP assembly of the EFS patient with the heterozygous ZP3 mutation, which provides new insights into the pathogenesis of EFS.
Cloacal Exstrophy Repair with Primary Closure of Bladder Exstrophy: A Case Report and Review of Literature
Authors: George Bethell, Navroop Johal, Peter Cuckow
Journal: Case Rep Pediatr (2016)

Cloacal exstrophy is the most complex congenital, ventral, abdominal wall defect. Traditionally surgery consists of a staged approach to repair which takes place on many separate theatre visits. In this case a primary approach was undertaken resulting in a relatively short inpatient stay and a reduced risk from multiple surgical procedures under general anaesthesia.
Compartment Syndrome following Bothrops Snakebite Leads to Decompressive Fasciotomies
Authors: Murilo Sérgio Valente-Aguiar, Bruno Gonçalves da Costa E Silva, Teresa Magalhães, Ricardo Jorge Dinis-Oliveira
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

Snakebite envenoming is a neglected tropical disease with relevant morbidity and mortality. In this report, we illustrate the clinical course of a suspected Bothrops snakebite envenoming of a patient that evidenced severe pain, edema, pallor, regional lymphadenopathy, ecchymosis, myonecrosis, and bullous erythema in the right lower limb, specially around the fang marks. The clinical course progressed to compartment syndrome followed with decompressive fasciotomies to reduce pressure within the affected compartment.
Hairy Cell Leukemia Masquerading as Pancytopenia in Pregnancy
Authors: Louisa Shackleton, Stephen E Langabeer, David O'Brien, Sarah L McCarron, Bridgette Byrne, Rupert Barry, Richard Flavin, C Larry Bacon, Catherine M Flynn
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Thrombocytopenia is one of the most common hematological abnormalities observed during pregnancy, and in rare cases, this may be the first indicator of an underlying hematological malignancy. Hairy cell leukemia (HCL) is an uncommon B-cell lymphoproliferative disorder of which thrombocytopenia is a recurrent presenting feature. A case of pancytopenia presenting in pregnancy is described in which the thrombocytopenia persisted postpartum coincidental with a vesicular, pustular rash characterised as Sweet's syndrome. Hematological, histological, immunophenotypic, and molecular investigations confirmed the presence of HCL. The patient was treated with cladribine resulting in resolution of Sweet's syndrome, hematological remission from HCL, and achievement of a normal platelet count. This case highlights the need to maintain a wide differential diagnosis for presentations of pancytopenia or thrombocytopenia in pregnancy and the requirement for follow-up investigation of unusual cases with a lack of response to steroids or immunoglobulin.
Dysphagia as Isolated Manifestation of Jo-1 Associated Myositis?
Authors: Bendix Labeit, Paul Muhle, Sonja Suntrup-Krueger, Sigrid Ahring, Tobias Ruck, Rainer Dziewas, Tobias Warnecke
Journal: Front Neurol (2019)
Keywords: jo-1, jo-1 autoantibody, antisynthetase antibody, antisynthetase syndrome, diagnostic algorithm, dysphagia, idiopathic inflamed myopathy, myositis
MeSH terms: Case Reports

Dysphagia can be predominant or sole symptom of myositis. However, diagnostic evaluation is difficult in such cases. Here, we present evidence for dysphagia as sole manifestation of Jo-1 associated myositis. A 77-year-old patient suffering from isolated dysphagia was assessed by flexible endoscopic evaluation of swallowing, videofluoroscopy, high resolution esophageal manometry, whole body muscle MRI, electroneurographic and electromyographic examination, cerebrospinal fluid analysis, screening for autoantibodies, and body plethysmography. We detected isolated oropharyngeal dysphagia including a decreased pressure of the upper esophageal sphincter leading to cachexia in an anti-Jo-1 positive patient without any abnormalities in the other diagnostics. Immunosuppressive therapy with cortisone and azathioprine led to long-term improvement of dysphagia. This is the first report of isolated dysphagia as manifestation of Jo-1 associated myositis. Therefore, Jo-1 associated myositis should be considered as a possible differential diagnosis for isolated dysphagia. Typical signs for myositis in instrumental dysphagia assessment are presented.
Ultrasound-guided repetitive pulsed peripheral magnetic stimulation provides pain relief in refractory glossopharyngeal neuralgia: A case report
Authors: James S Khan, Duncan Westwood, Massieh Moayedi
Journal: Can J Pain (2023)
Keywords: case report, glossopharyngeal neuralgia, magnetic stimulation, neuromodulation, neuropathic pain
MeSH terms: Case Reports

Aims:
Repetitive peripheral magnetic stimulation (rPMS) is a novel nonpharmacological treatment modality. This noninvasive approach can stimulate peripheral nerves to provide analgesia through neuromodulation. We report the first case of ultrasound-guided rPMS to treat a case of severe refractory glossopharyngeal neuralgia.
Methods:
A 70-year-old female with an 8-year history of glossopharyngeal neuralgia reported refractory pain unresponsive to pharmacological and interventional treatments. After consenting to treatment, the patient received high-frequency rPMS in three different sessions using intermittent theta burst stimulation below motor thresholds. rPMS was applied over the skin directed at the glossopharyngeal nerve identified using ultrasound guidance. Session 1 included 20 min of continuous treatment, session 2 included 40 min of treatment (two 20-min treatments separated by a 10-min break), session 3 included 40 min of treatment (similar to Session 2) repeated daily for 5 days. Pre- and postintervention pain levels were collected with a daily 1-week pain diary and pain questionnaires.
Results:
Session 1 led to an immediate 30% decrease in pain after treatment. Session 2 led to a 75% decrease in pain immediately after treatment that remained reduced for approximately 2 days. Session 3 produced complete pain relief immediately after treatment and remained lower for 5 days after treatment and returned to baseline levels at 1 week.
Conclusion:
rPMS provided immense but temporary relief in a severe case of refractory glossopharyngeal neuralgia. Further work is needed to determine the most effective regimen to treat complex pain disorders in the head and neck.
Ebstein's Anomaly, Left Ventricular Noncompaction and Gerbode-Like Defect Triad (Fetal Diagnosis and Neonatal Course)
Authors: Mohammad Mehdi, Snigdha Bhatia, Mehul Patel, Ashraf Aly
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Ebstein's anomaly is characterized by the apical displacement of the septal and posterior leaflets of the tricuspid valve with atrialization of the right ventricle (RV). It is commonly associated with other heart defects including left ventricular noncompaction. We describe a case of prenatally diagnosed Ebstein's anomaly in association with left ventricular noncompaction and a septal defect between the left ventricle and the atrialized portion of the RV (Gerbode-like defect). The patient underwent a modified Blalock-Taussig shunt followed by Glenn procedure because of severe RV hypoplasia and RV outflow tract obstruction. The patient tolerated both procedures and is doing clinically well in anticipation of Fontan procedure for single ventricle palliation.
Pseudobulbar laughter as a levodopa off phenomenon exacerbated by subthalamic deep brain stimulation
Authors: P K Chattha, P E Greene, Ritesh A Ramdhani
Journal: J Clin Mov Disord (2015)
Keywords: deep brain stimulation, off phenomenon, pseudobulbar affect
MeSH terms: Case Reports

Pseudobulbar affect is a common symptom in neurodegenerative diseases and can also result from lesions in cortical, subcortical and brainstem regions. In Parkinson's disease (PD), pseudobulbar affect (PBA) can occur as a wearing off phenomenon, manifested usually as crying without emotionality. In addition, subthalamic (STN) deep brain stimulation (DBS) has been reported to induce PBA in PD patients with no prior history of such episodes. We present a case of inappropriate laughter lacking mirth as a levodopa OFF phenomenon in a patient with PD, whose laughter also worsened with STN-DBS in his non-medicated state. Levodopa ameliorated his PBA both with and without stimulation. The case demonstrates pseudobulbar laughter as a levodopa OFF phenomenon that is also exacerbated by STN-DBS.
Dialysis Disequilibrium Syndrome: brain death following hemodialysis for metabolic acidosis and acute renal failure--a case report
Authors: Sean M Bagshaw, Adam D Peets, Morad Hameed, Paul J E Boiteau, Kevin B Laupland, Christopher J Doig
Journal: BMC Nephrol (2004)
MeSH terms: Acidosis / therapy, Acute Kidney Injury / therapy, Brain Death, Brain Edema / etiology, Hydronephrosis / complications, Renal Dialysis / adverse effects, Systemic Inflammatory Response Syndrome / complications, Case Reports, Acidosis / etiology, Acute Kidney Injury / etiology, Adult, Bacteremia / complications, Brain Edema / physiopathology, Escherichia coli Infections / complications, Extracellular Fluid / chemistry, Humans, Intracellular Fluid / chemistry, Male, Models, Biological, Multiple Organ Failure / etiology, Osmolar Concentration, Pneumonia / complications, Pyuria / complications, Staphylococcal Infections / complications, Streptococcal Infections / complications, Streptococcus agalactiae, Substance Abuse, Intravenous / complications, Syndrome

Background:
Dialysis disequilibrium syndrome (DDS) is the clinical phenomenon of acute neurologic symptoms attributed to cerebral edema that occurs during or following intermittent hemodialysis (HD). We describe a case of DDS-induced cerebral edema that resulted in irreversible brain injury and death following acute HD and review the relevant literature of the association of DDS and HD.
Case presentation:
A 22-year-old male with obstructive uropathy presented to hospital with severe sepsis syndrome secondary to pneumonia. Laboratory investigations included a pH of 6.95, PaCO2 10 mmHg, HCO3 2 mmol/L, serum sodium 132 mmol/L, serum osmolality 330 mosmol/kg, and urea 130 mg/dL (46.7 mmol/L). Diagnostic imaging demonstrated multifocal pneumonia, bilateral hydronephrosis and bladder wall thickening. During HD the patient became progressively obtunded. Repeat laboratory investigations showed pH 7.36, HCO3 19 mmol/L, potassium 1.8 mmol/L, and urea 38.4 mg/dL (13.7 mmol/L) (urea-reduction-ratio 71%). Following HD, spontaneous movements were absent with no pupillary or brainstem reflexes. Head CT-scan showed diffuse cerebral edema with effacement of basal cisterns and generalized loss of gray-white differentiation. Brain death was declared.
Conclusions:
Death is a rare consequence of DDS in adults following HD. Several features may have predisposed this patient to DDS including: central nervous system adaptations from chronic kidney disease with efficient serum urea removal and correction of serum hyperosmolality; severe cerebral intracellular acidosis; relative hypercapnea; and post-HD hemodynamic instability with compounded cerebral ischemia.