OpenMed/multicare-articles huggingface dataset:
Case Report: Primary Peritonitis as the Onset of Pediatric Ménétrier's Disease
Authors: Ana Barrés-Fernández, Andrés Piolatti-Luna, José Rafael Bretón-Martínez, Elena Crehuá-Gaudiza, Carmen Quiñones-Torrelo, Anaïs Moscardó-Navarro, Cristina Fuertes-Latasa, Cecilia Martínez-Costa
Journal: Front Pediatr (2021)
Keywords: ménétrier's disease, case report, hypertrophic gastropathy, primary peritonitis, protein-losing enteropathy
MeSH terms: Case Reports

Introduction: Primary peritonitis (PP) and Ménétrier's Disease (MD) are both rare conditions among pediatric population. Although about 150 MD cases have been described in the scientific literature to date, its onset with a PP is an unusual condition. Case Presentation: We present a case of an 11-year-old boy who was admitted to our unit because of abdominal pain and distension. Complementary tests showed ascites, bilateral pleural effusion, leukocytosis, increased acute phase reactants and hypoproteinemia with hypoalbuminemia. Laparoscopy ruled out appendicitis or visceral perforations and exposed purulent peritoneal fluid, compatible with PP. Biochemical stool analysis showed increased clearance of alpha-1-antitrypsin, which was consistent with a protein-losing enteropathy. Gastroscopy findings were compatible with MD. The clinical course was favorable and he had no recurrence after 12 months of follow-up. Conclusion: PP can be the first clinical manifestation of pediatric MD. Knowledge of MD and its generally benign nature in children is important in order to avoid excessive testing and unnecessary treatment.
Ten Years of Severe Vitreomacular Traction Syndrome without Functional Damage Demonstrated by Optical Coherence Tomography
Authors: Michele Reibaldi, Teresio Avitabile, Maurizio Giacinto Uva, Francesco Occhipinti, Mario Toro, Marco Zagari, Andrea Russo
Journal: Case Rep Ophthalmol Med (2011)
MeSH terms: Case Reports

Introduction. To describe anatomical and functional features in one patient with 10 years of severe vitreomacular traction syndrome (VTS) without functional damage demonstrated by optical coherence tomography (OCT). Patient and Methods. One patient with a history of 10 years VTS, with best-corrected visual acuity of 20/32, was followed up with OCT. Follow-up examinations, 3 months for the first year after diagnosis and every 6 months for the subsequent years, were performed. Results. Follow-up examinations showed no change anatomically and functionally. Far and near visual acuity was unchanged. OCT by Heidelberg Spectralis did not evidence differences from Stratus OCT images. Conclusion. VTS can be stable anatomically and functionally for 10 years. OCT is a valuable diagnostic tool in understanding the configuration of vitreomacular adhesion, followup, and eventually planning the surgical approach for operating on VTS.
Case Report: Primary dural based diffuse large B-Cell lymphoma in a 14 year-old boy
Authors: Sunil Munakomi, Binod Bhattarai, Balaji Srinivas, Iype Cherian
Journal: F1000Res (2015)
Keywords: herniation syndrome, intracranial lymphoma, paediatric cancer, primary dural diffuse large b-cell lymphoma, surgical resection

Primary dural lymphoma is a subentity of primary leptomeningeal lymphoma which represents 0.1% of all non-Hodgkin's lymphomas. Only five cases have been reported so far. We report a very rare case of primary dural-based lymphoma in a 14 year-old boy presenting with mass effect. The patient was managed with excision of the lesion and removal of the involved bone. Post-operatively, the patient showed good recovery. He was then referred to the oncology unit for further chemo- and radiation therapy. A high index of suspicion should therefore be kept in order to diagnose the condition in a timely fashion and then plan for appropriate management since diffuse large cell lymphoma has a relatively benign clinical prognosis.
Ventricular Tract Hemorrhage Following Intracranial Nail Removal: Utility of Real-time Endovascular Assistance
Authors: Robert C Rennert, Jeffrey A Steinberg, Jayson Sack, J Scott Pannell, Alexander A Khalessi
Journal: Front Neurol (2016)
Keywords: cerebral embolization, nail gun, penetrating brain trauma
MeSH terms: Case Reports

Penetrating brain trauma commonly results in occult neurovascular injury. Detailed cerebrovascular imaging can evaluate the relationship of intracranial foreign bodies to major vascular structures, assess for traumatic pseudoaneurysms, and ensure hemostasis during surgical removal. We report a case of a self-inflicted intracranial nail gun injury causing a communicating ventricular tract hemorrhage upon removal, as well as a delayed pseudoaneurysm. Pre- and post-operative vascular imaging, as well as intra-operative endovascular assistance, was critical to successful foreign body removal in this patient. This report demonstrates the utility of endovascular techniques for the assessment and treatment of occult cerebrovascular injuries from intracranial foreign bodies.
Undifferentiated Pleomorphic Sarcoma of Liver: Case Report and Review of the Literature
Authors: Jirong Betty Mass, Geoffrey Talmon
Journal: Case Rep Pathol (2018)
MeSH terms: Case Reports

Undifferentiated pleomorphic sarcoma (UPS), previously known as malignant fibrous histiocytoma (MFH), is rarely reported in the liver as a primary site. We report a case of a previously healthy 56-year-old male, who presented with abdominal pain and jaundice. The patient was originally diagnosed with cholecystitis, treated with cholecystectomy, which was complicated by abdominal abscess. One week following discharge, the patient was readmitted with fever, chills, and leukocytosis. Computed tomography (CT) guided liver biopsies demonstrated an epithelioid to spindle cell neoplasm with markedly atypical nuclei and prominent necrosis infiltrating between hepatocytes. Immunohistochemical studies were negative for epithelial, melanocytic, and hematolymphoid differentiation. Positron emission tomography (PET) was performed, which showed a single markedly hypermetabolic central hepatic mass (14 x 8.5 x 8.5 cm) with likely central necrosis, consistent with primary malignancy. The patient was treated with one cycle of chemotherapy (doxorubicin and ifosfamide), refusing additional cycle due to medication side effects. The patient subsequently succumbed to complications associated with the malignancy and died within 19 days of diagnosis.
Co-Occurrence of Pheochromocytoma-Paraganglioma and Cyanotic Congenital Heart Disease: A Case Report and Literature Review
Authors: Bingbin Zhao, Yi Zhou, Yi Zhao, Yumo Zhao, Xingcheng Wu, Yalan Bi, Yufeng Luo, Zhigang Ji, Shi Rong
Journal: Front Endocrinol (Lausanne) (2018)
Keywords: cyanotic congenital heart disease, hypoxia, hypoxia-inducible factor, paraganglioma, pheochromocytoma
MeSH terms: Case Reports

Pheochromocytoma and paraganglioma (PHEO-PGL) and cyanotic congenital heart disease (CCHD) are both rare diseases. We reported a 30-year-old patient with a right adrenal gland nodule and a retroperitoneal mass and history of functional single atrium and ventricle. 123I-metaiodobenzylguanidine scintigraphy showed intense uptake in both lesions. Laboratory investigation demonstrated elevated urinary norepinephrine. Preoperative α-blockade was initiated. A successful open resection of right adrenal and retroperitoneal masses was performed. Pathological examination confirmed PHEO-PGL. Postoperative urinary norepinephrine returned to normal level. A systematic case review in English publications in PubMed and EMBASE suggested a hypothesis that there may exist a possible link between PHEO-PGL and hypoxia from CCHD, which was also indicated in our case. Due to higher risk for PHEO-PGL, a lower threshold of suspicion should be considered in CCHD patients. Therefore, active screening and early treatment of PHEO-PGL are recommended in CCHD patients and clinicians should keep on a long-term follow-up to monitor PHEO-PGL recurrence if hypoxia is not corrected.
Morvan's Syndrome: The Importance of Knowing Different Risk-Associated Phenotypes and Antibodies in Identifying the Correct Underlying Tumor
Authors: Ana Rita Ramalho, José Abreu Fernandes, José T Magalhães, Maria João Rocha, Gonçalo Cunha, Maja Petrova, José Moura, Lèlita Santos
Journal: Cureus (2023)
Keywords: caspr2, lgi1, morvan’s syndrome, paraneoplastic neurologic syndromes, thymoma
MeSH terms: Case Reports

Paraneoplastic neurologic syndromes (PNS) are neurologic disorders that can affect any part of the nervous system, occur in association with cancer, and have an immune-mediated mechanism that produces direct damage to the neural tissue. Neurological symptoms frequently precede, in months to years, the symptoms directly attributed to the primary tumor, requiring a high clinical suspicion for adequate investigation. We report the case of a man in his early 80s admitted for an altered level of consciousness, alternating between periods with stupor and drowsiness, short-term waking states and psychomotor agitation, respiratory failure and dysautonomia, resembling a Morvan's syndrome. Anti-leucine-rich glioma-inactivated 1 and anti-contactin-associated protein-like 2 antibodies were both positive and, after exclusion of infectious and autoimmune systemic causes, the possibility of PNS was raised. Screening for the primary tumor was pursued, and an 18F-fluorodeoxyglucose (18F-FDG)/PET showed only an intensely hypermetabolic, apparent parietal thickening of the lower rectum. Due to the frequent association of Morvan's syndrome to thymoma, a review of the CT of the thorax images was requested and a mediastinal image with features of thymoma was identified. PNS treatment and prognosis depend on finding and treating the underlying tumor, with benefits in both resolution of neurological symptoms and in the prognosis of the underlying tumor itself. Therefore, clinicians should be aware of this frequent but underdiagnosed and underreported condition, in order to improve the chances of better outcomes.
Successful cervicothoracic esophageal stricture treatment with partial sternectomy and a pedicled TAAP flap: A case report
Authors: Baofei Li, Haiyang Wang, Jun Liu, Xiaosong Mu, Feng Xu, Di Deng, Yixin Qiao, Shipin Wang, Fei Chen
Journal: Front Surg (2023)
Keywords: anastomotic fistula, esophageal stenosis, esophagoplasty, perforator flap, sternectomy
MeSH terms: Case Reports

Postoperative benign esophageal anastomotic leakage and stenosis are common complications after esophagectomy. Treatment options for anastomosis stenosis include endoscopic mechanical dilation, dilation-combined steroid injection, incisional therapy, stent placement, and self-bougienage. However, long-segmental cervicothoracic esophageal stenosis and cutaneous fistula are always refractory to conservative treatments and are clinically challenging. When lesions extend well below the thoracic inlet, transthoracic esophagectomy and alimentary canal reconstruction seem to be the common choice but are susceptible to perioperative mortality and donor-site sequelae, especially for patients with poor health conditions. In this report, we present a novel surgical approach for cervicothoracic esophageal stenosis and fistula via partial sternectomy and reconstruction with a pedicled thoracoacromial artery perforator flap. No recurrence or complications occurred throughout 3 months of follow-up. This case study adds new perspectives to the treatment of anastomotic stenosis.
Metastatic Gallbladder Melanoma Presenting as Acute Emphysematous Cholecystitis
Authors: Natalie Hall, Nicole L Grenier, Samir A Shah, Richard Gold, Edward Feller
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Malignant melanoma is an aggressive tumor with a high potential for distant metastases, including spread to the gallbladder where it represents more than half of all metastases detected at autopsy. Yet, it is rarely symptomatic in life and is a rare cause of acute cholecystitis. Emphysematous cholecystitis is a rare, potentially fatal variant of acute cholecystitis characterized by the presence of gas in the gallbladder lumen or wall. We report a 77-year-old woman with acute emphysematous cholecystitis as the initial feature of recurrent melanoma metastatic to the gallbladder. This exceptional association highlights the need to consider a relapse of malignancy when assessing unexplained abdominal symptoms in any patient with a prior history of melanoma.
A giant teratoma in the anterior mediastinum found prenatally: A case report
Authors: Yuntian Su, Ailixiati Alifu, Haifan Wang, Shibin Lin, Xiaoman Su, Yong Wei, Ying Wan, Renwei Chen
Journal: Front Pediatr (2023)
Keywords: cardiothoracic surgery, case report, mediastinal tumor, prenatal diagnosis, teratoma
MeSH terms: Case Reports

Prenatal anterior mediastinal teratomas are rare. Anterior mediastinal teratomas can cause edema during the perinatal period. Color Doppler ultrasonography and chest computed tomography (CT) are of great value in diagnosing neonatal anterior mediastinal teratomas. Here, we report a case of prenatally diagnosed neonatal anterior mediastinal teratoma. After birth, transthoracic echocardiography and chest enhanced CT showed a large solid mass in the pericardial cavity. Owing to compression of the heart, the tumor was completely removed 1 day after birth, and cardiopulmonary bypass was performed. Pathology results indicated an immature teratoma (Grade I). At 9-month follow-up, the patient remained in good overall condition without observed recurrences.
Combined liver-kidney transplant in polycystic diseases: a case report
Authors: Olival Cirilo Lucena da Fonseca Neto, Beatriz Costa Nava Martins, Norma Thomé Jucá, Victor Cruz Rosa Alencar de Sá, Priscylla Jennie Monteiro Rabêlo, Paulo Sérgio Vieira de Melo, Américo Gusmão Amorim, Cláudio Moura Lacerda
Journal: Einstein (Sao Paulo) (2023)
MeSH terms: Kidney Transplantation / adverse effects, Liver Transplantation, Case Reports, Adult, Female, Hepatomegaly / diagnostic imaging, Hepatomegaly / etiology, Humans, Kidney, Quality of Life, Polycystic liver disease

Polycystic liver disease, a hereditary pathology, usually manifests as autosomal dominant polycystic kidney disease. The many cysts in the liver cause massive hepatomegaly, majorly affecting the patient's quality of life. In cases of refractory symptoms, liver transplantation is the only treatment choice. A 43-year-old woman was followed up as a hepatology outpatient in August 2020, with a progressive increase in abdominal volume, lower limb edema, and cachexia. The patient was diagnosed with polycystic renal and liver disease with massive hepatomegaly in March 2021, a combined kidney-liver transplant. Liver size represented 13% of the patient's corporal composition, weighing 8.6kg. The patient was discharged on the 7th postoperative day with no complications. Only 10-20% of patients with polycystic liver disease have clinical manifestations, most of which result from hepatomegaly. An increase in liver volume deteriorates liver function until the condition becomes end-stage liver disease, as kidney function is already compromised; liver-kidney transplantation remains the only treatment choice. The case described drew significant attention to the massive hepatomegaly presented in the patient, with the liver representing over 10% of the patient's body weight, approximately five to six times larger than a normal-sized liver.
High-resolution optical coherence tomography retinal imaging: a case series illustrating potential and limitations
Authors: Olena Puzyeyeva, Wai Ching Lam, John G Flanagan, Michael H Brent, Robert G Devenyi, Mark S Mandelcorn, Tien Wong, Christopher Hudson
Journal: J Ophthalmol (2011)
MeSH terms: Case Reports

Purpose. To present a series of retinal disease cases that were imaged by spectral domain optical coherence tomography (SD-OCT) in order to illustrate the potential and limitations of this new imaging modality. Methods. The series comprised four selected cases (one case each) of age-related macular degeneration (ARMD), diabetic retinopathy (DR), central retinal artery occlusion (CRAO), and branch retinal vein occlusion (BRVO). Patients were imaged using the Heidelberg Spectralis (Heidelberg Engineering, Germany) in SD-OCT mode. Patients also underwent digital fundus photography and clinical assessment. Results. SD-OCT imaging of a case of age-related macular degeneration revealed a subfoveal choroidal neovascular membrane with detachment of the retinal pigment epithelium (RPE) and neurosensory retina. Using SD-OCT, the cases of DR and BRVO both exhibited macular edema with cystoid spaces visible in the outer retina. Conclusions. The ability of SD-OCT to clearly and objectively elucidate subtle morphological changes within the retinal layers provides information that can be used to formulate diagnoses with greater confidence.
COVID-19 associated pulmonary aspergillosis (CAPA) in a pregnant woman
Authors: Shruti Agrawal, Ravi Hari Phulware
Journal: Autops Case Rep (2021)
Keywords: covid-19, pulmonary aspergillosis, fungi, respiratory distress syndrome,, sars-cov-2

Viral or bacterial co-infections with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have been reported in the literature. However, the knowledge on Aspergillus co-infection among patients with coronavirus disease 2019 (COVID-19) is limited. COVID-19-associated pulmonary aspergillosis (CAPA) has been seen in critically ill COVID-19 patients with acute respiratory distress syndrome (ARDS), which has raised concerns about the worsening disease course of COVID-19 and increasing mortality. We describe a clinical case of CAPA infection and acute respiratory distress syndrome (ARDS) with a deathly outcome in a previously well, non-immunocompromised pregnant woman with intrauterine death of the fetus. Hence, we suggest that clinicians and pathologists keep alerting the possible occurrence of pulmonary aspergillosis in severe/critical COVID-19 patients, and aggressive investigations should be done to rule out the possibility of CAPA so that early treatment can be administrated.
Focal Task-Specific Lower Limb Dystonia Only When Walking Stairs: Is It a New Disease Entity?
Authors: Jong Sam Baik, Hyeo-Il Ma, Phil Hyu Lee, Takaomi Taira
Journal: Front Neurol (2019)
Keywords: focal dystonia, lower limb, stairs, task-specific, walking dystonia
MeSH terms: Review

Introduction: Focal task-specific dystonia in the lower limb or foot often occurs only during walking, running, hiking, or cycling. Several medications and botulinum toxin injection are effective in patients with this disorder. The objective of this study was to understand the spectrum of focal task-specific dystonia in the lower limb only when walking stairs and to compare other types of task-specific dystonia. Methods: All original articles and case reports were collected and reviewed using PubMed. In addition, all video clips of published cases were evaluated, and patients' clinical findings analyzed. The present study included 12 patients described in previous studies and five new Asian patients found in the medical records. Results: Most of the patients were women, and the onset age was 42 years. Ten patients were classified as the Kicking type, including three patients with the rKicking type, and six patients were considered as the Lifting type; however, only one patient was not included in any of the types. Symptoms in most of the patients did not improve with any medications or botulinum toxin injection. The symptoms of most patients did not change over a long time. Conclusion: Most patients showed the dystonic symptom when walking downstairs rather than upstairs. Psychogenic dystonia is a disease differentially diagnosed with this dystonia. Unlike other types of focal task-specific dystonia, the response to treatment was disappointing because most of the medications and botulinum toxin injection were not effective. The prognosis is completely different from that of other types of focal task-specific dystonia.
Genetic Profile and Clinical Implications of Hepatoblastoma and Neuroblastoma Coexistence in a Child
Authors: Szymon Skoczen, Konrad Stepien, Marta Krzysztofik, Teresa Luszawska, Malgorzata Hnatko-Kolacz, Michal Korostynski, Marcin Piechota, Katarzyna Kolanek, Lukasz Wyrobek, Katarzyna Wysocka, Wojciech Gorecki, Walentyna Balwierz
Journal: Front Oncol (2019)
Keywords: children, hepatoblastoma, malignant neoplasms, mutation, neuroblastoma
MeSH terms: Case Reports

The aim of the following case report is to provide a description of the coexistence of two independent tumors in a child. A 9-month-old male was referred to Department of Pediatric Oncology and Hematology with hepatic tumor present on ultrasound imaging and symptoms of enlarged abdominal circumference. Physical examination revealed a palpable epigastric mass and the imaging techniques showed a tumor of the left hepatic lobe measuring 11 × 6.5 × 8.9 cm with pancreas infiltration, distant metastases in both lungs and abnormal lesion in the left adrenal gland. Basing on histopathological examination, after a core-needle biopsy, hepatoblastoma (HBL) (mixed epithelial-mesenchymal subtype) was diagnosed. The α-fetoprotein level was 112 993 ng/ml. Elevated values of normetanephrine, 3-methoxytyramine as well as neuron-specific enolase were observed. Due to the clinical picture and diagnosis, the patient was qualified to preoperative chemotherapy according to the SIOPEL-3 protocol, followed by SIOPEL-4 protocol for the high-risk patients. After undergoing preoperative chemotherapy, imaging tests revealed regression of hepatic tumor and no focal pulmonary masses, while regression of adrenal gland mass was not completed. The patient was qualified for left hemihepatectomy with left adrenalectomy. Histopathological examination of liver specimen confirmed the HBL diagnosis. However, in left adrenal gland and paraaortic lymph nodes the residual neuroblastoma (NBL) cells were detected. Whole exome sequencing (WES) was utilized to identify disease-associated germline mutations. WES revealed a novel germline insertion variant in TWIST1 (p.Gly86dup), along with the potentially pathogenic non-synonymous variants in NF1 (p.Val2511Ile), RAF1 (p.Leu445Arg), and WHSC1 (p.Ser4Asn) genes. Currently, 6 months after completion of treatment according to the SIOPEL-4 protocol, the patient is in good general condition, without any signs, and symptoms of relapse of both neoplasms. The coexistence of two different primary childhood malignancies is rarely seen. So far, only one case of synchronous HBL and NBL has been reported. However, for the first time therapeutic process was successful. A specific signature of rare germline mutations can be proposed as a predisposing factor to synchronous HBL and NBL occurrence.
Case Report: Microsurgical excision of grade 5 cerebral AVM
Authors: Sunil Munakomi, Binod Bhattarai, Iype Cherian
Journal: F1000Res (2015)
Keywords: avm, arteriovenous malformation, grading, management

In this case report, we discuss the microsurgical management of a Spetzler-Martin grade 5 arteriovenous malformation (AVM) in a young boy who presented with a hemorrhagic episode and had a high calculated risk of rebleeding. We also outline the rationale for choosing the management option.