OpenMed/multicare-articles huggingface dataset:
Case Report: Surgical thrombectomy in a patient with isolated cortical vein thrombosis previously misdiagnosed as brain tumor
Authors: Yang Bai, Liansheng Dong, Chunyong Yu, Sizhe Feng, Guobiao Liang
Journal: Front Oncol (2022)
Keywords: brain tumor, diagnosis and treatment, isolated cortical vein thrombosis, neuroimaging, thrombectomy
MeSH terms: Case Reports

Introduction:
As a rare type of cerebral venous thrombosis, isolated cortical vein thrombosis (ICVT) is easily misdiagnosed as brain tumor, especially in the cases with prominent signs of parenchymal brain lesions. Despite controversy concerning the efficacy and safety, anticoagulant treatment dominates in current therapeutic strategies for ICVT. As yet, surgical thrombectomy in the treatment of ICVT has not been reported. We present hereafter a female with ICVT previously misdiagnosed as brain tumor who had successful surgical thrombectomy.
Case description:
A 54-year-old female with progressive left-sided limb weakness suddenly developed focal tonic-clonic epileptic seizure. Physical examination indicated strength of 0/5 in the left limbs. Magnetic resonance imaging (MRI) showed an irregular juxtacortical lesion surrounded with massive edema in the frontoparietal cortex, which was initially diagnosed as glioma. However, it turned out to be ICVT of the central sulcus vein during craniotomy. Then, venotomy and thrombectomy were performed, with instant recanalization of the vein noticed during surgery. In retrospect, we identified the suspected ICVT of the central sulcus vein in preoperative magnetic resonance venotography (MRV) and contrast MRI images. Laboratory tests also revealed homocysteinemia and hypercoagulable states in the patient. Follow-up MRV obtained 3 months after discharge showed cortical vein recanalization. At the one-year follow-up, she exhibited subtle sequelae of weakness in the left lower limb with a modified Rankin scale score of 1.
Discussion:
Physicians should be aware of ICVT in the differential diagnoses in patients with risk factors, classical symptoms, and parenchymal brain lesions in or near cortex. Surgical thrombectomy excels at realizing definite recanalization and avoiding systematic complications of anticoagulation. It might be a therapeutic alternative for ICVT, especially when craniotomy is performed for treating intracranial hypertension or a definite diagnosis is made during craniotomy.
Imaging manifestations of small cell neuroendocrine carcinoma of the ureter
Authors: Guiwu Chen, Xiong Huang, Wenqin Liu, Xiaomin Liao, Zhizhong He, Yuhuan Xie
Journal: Clin Case Rep (2023)
Keywords: computed tomography, magnetic resonance urography, small cell neuroendocrine carcinoma, tumor of the urinary system, ultrasonography
MeSH terms: Case Reports

Small cell neuroendocrine carcinoma (SCNEC) of the ureter is a rare malignant tumor originating from the metaplasia of urothelial cells. This report presents a case of ureteral SCNEC that was preliminarily disclosed by computed tomography; thereafter, transabdominal ultrasonography, transrectal ultrasonography, and magnetic resonance urography were performed to characterize the mass.
Leiomyosarcoma of the prostate: case report and review of 54 previously published cases
Authors: Gerasimos P Vandoros, Theodoros Manolidis, Michalis V Karamouzis, Maria Gkermpesi, Maria Lambropoulou, Athanasios G Papatsoris, Ioannis Zachos, Panagiotis A Konstantinopoulos
Journal: Sarcoma (2008)
MeSH terms: Case Reports

Prostate leiomyosarcoma is an extremely rare and highly aggressive neoplasm that accounts for less than 0.1% of primary prostate malignancies. We present a patient with primary leiomyosarcoma of the prostate and review 54 cases reported in the literature to discuss the clinical, diagnostic and therapeutic aspects of this uncommon tumor. Median survival was estimated at 17 months (95% C.I. 20.7-43.7 months) and the 1-, 3-, and 5-year actuarial survival rates were 68%, 34%, and 26%, respectively. The only factors predictive of long-term survival were negative surgical margins and absence of metastatic disease at presentation. A multidisciplinary approach is necessary for appropriate management of this dire entity.
Biochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child
Authors: Monica Pirastru, Laura Manca, Sandro Trova, Paolo Mereu
Journal: Biomed Res Int (2017)
MeSH terms: Hemoglobins, Abnormal / chemistry, Hemoglobins, Abnormal / genetics, Hemoglobins, Abnormal / metabolism, Homozygote, beta-Thalassemia / genetics, beta-Thalassemia / metabolism, Case Reports, Child, Humans, Syria, Hemoglobins, Abnormal, hemoglobin Lepore

Hemoglobin (Hb) Lepore is composed of two normal α chains and two δβ fusion globins that arise from unequal crossover events between the δ- and β-globin genes. The Hb Lepore is widespread all over the world and in many ethnic groups. It includes some of the few clinically significant Hb variants that are associated with a β-thalassemia phenotype. Here, we describe the first occurrence of Hb Lepore Boston Washington in a Syrian individual. The patient, a 10-year-old child, shows severe anemia with a Hb level of 6.85 g/dL and typical thalassemic red cell indices. The diagnostic procedure implies hematological, biochemical, and molecular analysis, including multiplex ligation-dependent probe amplification (MLPA) assay, GAP-PCR, and DNA sequencing. This latter allowed us to define the correct structure of the hybrid δβ-globin gene. The knowledge of the spectrum of mutations associated with different geographical areas is the prerequisite to set up large-scale screening programs and be able to offer genetic counseling to couples at risk.
The "reverse breast-oesophagus syndrome": metastatic carcinosis of breast in oesophageal cancer
Authors: Anjuna Reghunath, Yatish Agarwal, Avneet Singh Chawla, Mahesh Kumar Mittal, Swarna Gupta
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

A "breast-oesophagus syndrome" has been described previously, wherein breast carcinoma metastasizes to the inner layers of the oesophagus. The entity is extremely rare, but rarer still is metastatic breast carcinosis from oesophageal cancer (EC), a clinical event that might be termed as "reverse breast-oesophagus syndrome". Considered as the sixth most lethal malignancy, 50% EC patients present with metastatic disease. However, they rarely ever metastasize to the breast. For that reason, a malignant breast mass, which develops following EC, is often thought of as a second malignancy. We report a 62-year-old female who had EC, who was treated with oesophagectomy 2 years ago, and represented with a painful left breast mass. Radiological evaluation revealed suspicious findings (breast imaging-reporting and data system score of 4C), while cytology demonstrated squamous pearls, consistent with metastatic squamous cell EC, which probably disseminated to the breast at the time of surgery. She was treated with local excision of the breast mass, which is the treatment of choice in isolated metastasis to the breast. Such an unusual presentation reminds us that, in any "radiologically suspicious" breast lesion in patients with a history of carcinoma of the oesophagus, the possibility of breast metastasis must not be negated.
An unusual case of intercostal muscle flap ossification mimicking an intrathoracic rib
Authors: Sharif Abdullah, Ming Hao Guo, Gail Darling, Demetris Patsios
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

We present a unique case of intercostal muscle flap (ICMF) ossification mimicking an intrathoracic rib diagnosed 3 years after oesophageal perforation repair. A 58-year-old male presented with complaints of mild chest discomfort. Three years ago he had undergone left thoracotomy and primary repair of post-emetic oesophageal perforation. An ICMF had been used to strengthen the repair. Chest X-ray identified a linear calcific density within the left hemithorax. Subsequent thoracic CT characterized the anomaly as ossification of the ICMF. The lesion had the appearance of a well-differentiated intrathoracic rib coursing through the left lower lobe. We discuss the typical appearances of ossified ICMFs and the potential complications resulting from this ossification.
Metastasis of Papillary Thyroid Carcinoma to the Maxillary Sinus: Case Report and Review of the Literature
Authors: Hajime Shimmura, Eri Mori, Rumi Sekine, Masayoshi Tei, Nobuyoshi Otori
Journal: Case Rep Otolaryngol (2020)
MeSH terms: Case Reports

Metastasis of the thyroid carcinoma to the paranasal sinuses is rarely reported. Among these sinuses, metastasis to the maxillary sinus alone has been reported only in a few cases. This is the first reported case in a 76-year-old woman with papillary thyroid carcinoma metastasizing to the maxillary sinus alone and resected through endoscopic sinonasal surgery. When patients have sinus lesions and a history of malignancy, metastasis should be included in the differential diagnosis. If they have an isolated metastatic lesion to the paranasal sinus, ESS, either palliative or radical, can be a useful treatment option.
Case Report: Identification of a rare nonsense mutation in the POC1A gene by NGS in a diabetes mellitus patient
Authors: Dongfeng Li, Shihui Li, Jingjing Zhou, Lili Zheng, Gui Liu, Chengzhang Ding, Xingyun Yuan
Journal: Front Genet (2023)
Keywords: poc1a, soft syndrome, gene mutation, insulin resistance, special type of diabetes mellitus
MeSH terms: Case Reports

Objective: This study aimed to investigate the clinical and molecular biology of a patient with a type of diabetes mellitus caused by a mutation in the POC1A (OMIM number: 614783) gene and explore its pathogenesis and related characteristics. Methods: The patient was interviewed about his medical history and subjected to relevant examinations. Blood DNA samples were collected from the patient and his family members (parents) for trio whole-exome sequencing. Whole-exome sequencing was performed using the IDT xGen Exome Research Panel v1.0 whole-exome capture chip and sequenced using an Illumina NovaSeq 6,000 series sequencer (PE150); the sequencing coverage of the target sequence was not less than 99%. After systematic analysis and screening of the cloud platform for accurate diagnosis of genetic diseases, which integrated molecular biology annotation, biology, genetics, and clinical feature analysis, combined with a pathogenic mutation database, normal human genome database, and clinical feature database of 4,000 known genetic diseases, hundreds of thousands of gene variants were graded using the gene data analysis algorithm, a three-element grading system, and the American Society of Medical Genetics gene variant grading system. After polymerase chain reaction testing, the target sequence was verified by Sanger sequencing using an ABI3730 sequencer, and the verification result was obtained using sequence analysis software. Results: The patient had a peculiar face, a thin body, and a body mass index of 16.0 kg/m2. His fasting connecting peptide was 10.2 ug/L, his fasting insulin was 44 mIU/L, his fasting blood glucose was 10.5 mmol/L, and his glycosylated haemoglobin was 12.5%. After hospitalisation, the patient was given 0.75 g/d metformin tablets and 15 mg/d pioglitazone dispersible tablets, and his fasting blood glucose reduced to 9.2 mmol/L. After 48 U/L insulin treatment, the patient's fasting blood glucose was reduced to 8.5 mmol/L. Genetic screening revealed that there was a pathogenic variant at the POC1A gene locus and a cytosine-to-thymine mutation at the G81 locus, turning the Arg to a termination codon and shortening the POC1A protein from 359 amino acids (aa) to 80 aa. No mutation was detected in the patient's parents' POC1A gene loci. Conclusion: The patient's diabetes was caused by a POC1A gene mutation at the G81 locus, which is rarely reported in the clinic. The specific manifestations of this mutation need to be further investigated.
Myocardial infarction revealing a pleuropericardial cyst: a case report
Authors: Saîda Amaqdouf, Chaimae Toutai, Noha El Ouafi, Zakaria Bazid
Journal: Pan Afr Med J (2021)
Keywords: pericardial cyst, case report, echocardiography, myocardial infarction
MeSH terms: Mediastinal Cyst / diagnostic imaging, Myocardial Infarction / diagnostic imaging, Case Reports, Aged, Echocardiography, Humans, Incidental Findings, Male, Mediastinal Cyst / pathology

Pericardial cysts are a rare entity, accounting for 6-7 percent of all mediastinal masses. They are frequently congenital relating to a failure of fusion of mesenchymal layers forming the pericardial space. Pericardial cysts are considered rare incidental findings, they are mostly asymptomatic and benign, however life-threatening complications may occur. Here we present a case of a silent pericardial cyst that was discovered by chance while performing transthoracic echocardiography (TTE) for a man who was admitted for myocardial infarction.
Clinical use of HD-MTX monotherapy in a rare case of refractory primary bone diffuse large B-cell lymphoma with long-term survival after local radiotherapy: A case report
Authors: Zhiya Wu, Yue Teng, Jianqiu Wu, Honglu Zhang, Weiwei Peng, Cheng Meng, Weiyan Tang, Jifeng Feng
Journal: Front Med (Lausanne) (2022)
Keywords: case report, methotrexate, primary bone diffuse large b-cell lymphoma, primary bone lymphoma, refractory
MeSH terms: Case Reports

Primary bone diffuse large B-cell lymphoma (PB-DLBCL) has been rarely reported because of its low incidence. The optimal treatment plan for patients with relapsed/refractory PB-DLBCL remains controversial. In this study, we present a case of a 57-year-old patient with refractory PB-DLBCL to better understand this disease. The patient developed lumbosacral/low extremity pain. A lumbar magnetic resonance imaging (MRI) revealed skeletal lesions with osteolysis in L4-L5 and S1. With the failure of multi-line chemotherapy, the patient developed paralysis of both lower limbs. 18-Fluorinefluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) and MRI showed new lesions in the femoral head, cervical and thoracic vertebrae. We tried to treat the patient with adjuvant radiotherapy and 10 courses of high-dose methotrexate (HD-MTX)-based monotherapy, after which the patient was able to walk and achieved complete remission (CR). To the best of our knowledge, this is the first attempt to use local radiotherapy combined with an HD-MTX regimen successfully for the treatment of refractory PB-DLBCL.
Fishing-injury-related flexor tenosynovitis of the hand: a case report and review
Authors: Danny A Young-Afat, Deniz Dayicioglu, John C Oeltjen, Audene P Garrison
Journal: Case Rep Orthop (2013)

Hand infections occurring after fishing and other marine-related activities may involve uncommon bacteria that are not susceptible to the conventional or empiric antibiotic therapy used to treat soft tissue infections. Therefore appropriate treatment is often delayed and could lead to severe hand damage. An illustrative case of fishing-related injury leading to complicated tenosynovitis and horseshoe abscess caused by Mycobacterium marinum and its treatment course is outlined. Laceration of the skin during boating is fairly common. Because of the rarity of some of the bacteria, referrals to the appropriate specialist including hand surgeons and infectious disease specialists should occur in early stages. M. marinum infections should always be considered in injuries related to seawater and fishing as this may lead to early appropriate treatment and prevent severe damage.
Neonatal Hypernatremic Dehydration Associated with Lactation Failure
Authors: Zemichael Ogbe, Amanuel Kidane Andegiorgish, Aradom Habteab Zeray, Lingxia Zeng
Journal: Case Rep Crit Care (2020)
MeSH terms: Case Reports

Hypernatremic dehydration secondary to lactation failure remains a potentially life-threatening condition in countries where advanced laboratory investigations are scarce. An 11-day term baby with excessive weight loss (33.6%), reduced urine output, fever, jaundice, doughy skin, opisthotonus posturing, and tachycardia with poor perfusion was presented to our neonatal care. The baby was diagnosed with shock with hypernatremic dehydration. An initial bolus of 20 ml/kg of N/S was repeated 3 times (each over 20 minutes), i.e., a total of 204 ml was given over 1 hr, until the vital signs were normalized to PR-145, RR-45, T-37.2°C, SPO2-100%, and CRT < 3 seconds, and the baby began to void urine. Free water deficit and sodium excess was managed by gradual and slow correction over 72 hours to prevent cerebral oedema and neurologic sequelae. The baby required reconstituted solutions of 5% D/W + 1/2 N/S at a rate of 27 ml/hr for 72 hrs. Sepsis and hyperbilirubinemia were treated with antibiotics and phototherapy. Management of symptomatic hypernatremic dehydration must be considered in settings with inadequate laboratory facilities.
Recovery from Repeated Sudden Hearing Loss in a Patient with Takayasu's Arteritis Treated with Hyperbaric Oxygen Therapy: The First Report in the Literature
Authors: Massimo Ralli, Antonio Greco, Vincenzo Falasca, Giancarlo Altissimi, Mario Tombolini, Rosaria Turchetta, Sara de Fazio, Marco de Vincentiis, Giancarlo Cianfrone
Journal: Case Rep Otolaryngol (2017)
MeSH terms: Case Reports

Hearing loss has been rarely reported in Takayasu's arteritis, may present as Sudden Sensorineural Hearing Loss, and usually responds well to corticosteroid therapy. Hyperbaric Oxygen Therapy is commonly used as a supplementary treatment to corticosteroids for Sudden Sensorineural Hearing Loss. We present the case of a 36-year-old woman with Takayasu's arteritis who had two episodes of sudden hearing loss involving one ear at a time with an 11-month delay between each episode. During the first episode, the patient was treated with high-dose intramuscular corticosteroids with a temporary improvement of auditory threshold that deteriorated 14 days after cessation of therapy. In the second episode, Hyperbaric Oxygen Therapy was associated with corticosteroids, with improvements in both ears, including the one that was unresponsive in the long term to previous pharmacologic therapy. In this case, Hyperbaric Oxygen Therapy could have acted synergically with corticosteroids playing a role in hearing restoration.
Case report: 11-ketotestosterone may potentiate advanced bone age as seen in some cases of Wiedemann-Steiner Syndrome
Authors: Katherine Buchanan, Erin Greenup, Anna C E Hurst, Bhuvana Sunil, Ambika P Ashraf
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: 11-ketotestosterone, advanced bone age, wiedemann-steiner syndrome, adrenal steroidogenesis, adrenarche
MeSH terms: Abnormalities, Multiple / diagnosis, Abnormalities, Multiple / genetics, Intellectual Disability / diagnosis, Intellectual Disability / genetics, Case Reports, Androgens / metabolism, Female, Humans, 11-ketotestosterone, Androgens, Wiedemann Grosse Dibbern syndrome

Context:
Wiedemann-Steiner Syndrome (WSS) is a genetic disorder associated with an array of clinical phenotypes, including advanced bone age and short stature. 11-ketotestosterone (11KT) is a member of the group known as 11-oxygenated C19 androgens that are implicated in premature adrenarche.
Case description:
Case 1: The patient is a 3 year and 11-month-old female diagnosed with WSS due to deletion of KMT2A detected on CGH microarray. At two years and 11 months, imaging revealed an advanced bone age. We obtained an 11KT level on this patient. 11KT in case 1 was elevated at 26.3 ng/dL, while the normal reference range is 7.3-10.9 ng/dL and the reference interval for premature adrenarche is 12.3-22.9 ng/dL, The repeat 11KT at follow up (chronological age 4 years and 6 months) was still elevated at 33.8 ng/dL Case 2: A second child with WSS and a 5kb intragenic KMT2A deletion was evaluated at 11 months of age; his 11KT was 4.5 ng/dL.
Conclusions:
The elevated 11KT may indicate maturational changes related to increasing adrenal gland androgenic activation and may explain the advanced bone age seen in some patients with WSS. To our knowledge, this is the first case report that describes 11KT as a bioactive androgen potentially causing bone age advancement in WSS. Lack of elevation of 11KT in the second child who is an infant suggests increasing androgenic precursors and metabolites related to premature adrenarche may need to be longitudinally followed.
Intestinal necrosis caused by acute mesenteric ischemia associated with pregnancy: A case report and literature review
Authors: Dora Corrales, Daniel A Giraldo
Journal: Int J Surg Case Rep (2020)
Keywords: cardiovascular diseases, inflammatory bowel diseases, mesenteric ischaemia, pregnant women
MeSH terms: Case Reports

Introduction:
Mesenteric ischaemia associated with pregnancy is a rare disease with a high mortality rate and its prognosis depends on the time passing between diagnosis and final management.
Presentation of case:
A 38-year-old Peruvian woman developed intestinal necrosis during week 35 of her pregnancy because of mesenteric ischaemia associated with her pregnancy.
Discussion:
Given the findings of extensive intestinal necrosis, surgical resection was performed, causing short bowel syndrome. Histopathological analysis confirmed that the immediate cause of the patient's ischaemia was venous thrombosis associated with her gestation.
Conclusion:
Acute mesenteric ischaemia should be considered as a possible diagnosis in pregnant woman with risk factors for thrombophilia presenting with abdominal pain.
A Hybrid Oral Rehabilitation of Hypohidrotic Ectodermal Dysplasia: A Conservative Approach with Three-Year Follow-Up
Authors: Aryen Kaushik, HarshVardhan Sinha, M N Hombesh, Pooja Rani, Taranjeet Kaur
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

This case report presents a 19-year-old male patient with hypohidrotic ectodermal dysplasia, having a chief complaint of multiple missing teeth. Atraumatic extraction of the teeth with hopeless prognosis was done, and teeth with grade 2 mobility were submerged using cast dowel and coping. Following this, incremental increase in the vertical dimension was made using removable flexible splint of two-millimeter thickness. After facebow transfer and making appropriate eccentric bite records to program the semiadjustable articulator, wax-up was done at the desired vertical dimension (VD). The upper arch was finally restored using a long-span fixed partial denture and lower arch using bilateral attachment (Rhein 83) retained cast removable partial denture as a definitive prosthesis. Therefore, in conditions like hypodontia or oligodontia caused due to ectodermal dysplasia, attachment retained removable partial denture may prove beneficial by effectively distributing the occlusal forces. In clinical scenarios where implant is not feasible or not opted by the patient, this combination treatment may be a viable option.