OpenMed/multicare-articles huggingface dataset:
Case Report: The Association of Wilson Disease in a Patient With Ataxia and GLUT-1 Deficiency
Authors: Jenna Diaz, Ashley G Fonseca, Richard Arboleda, Alejandro Frade, Maria Pilar Gennaro, Parul Jayakar, Paula Schleifer, Erick Hernandez
Journal: Front Pediatr (2021)
Keywords: atp7b, slc2a1, wilson disease, ataxia, case report, elevated liver enzymes, glucose transporter 1 (glut1) deficiency
MeSH terms: Case Reports

Background: Wilson disease (WD) and glucose transporter type 1 (GLUT1) deficiency syndrome are two syndromes with different modes of inheritance but share certain similarities on neurological presentation. To date we have not found previous reports of an association between these two disorders. Case Presentation: Here we describe a 9-year-old male with global developmental delay that presented with intermittent and sudden onset weakness that first occurred at age 3. He was diagnosed with a mutation in the SLC2A1 (Solute Carrier Family 2 Member 1) gene, which results in GLUT1 deficiency. A ketogenic diet could not be started because of unexplained elevated liver enzymes. Due to his liver enzymes' persistent elevation, further investigations demonstrated mildly decreased ceruloplasmin levels, high basal 24-h urinary copper excretion, and an elevated hepatic parenchymal copper concentration on liver biopsy, consistent with WD. Genetic testing revealed two separate mutations in the ATP7B (ATPase Copper Transporting Beta) gene, consistent with WD. The patient was treated with a low copper diet, zinc acetate, and trientine hydrochloride. When liver enzymes normalized, he was subsequently started on a ketogenic diet with improvement in neurological symptoms. His neurological symptoms were most likely secondary to GLUT1 deficiency syndrome, as WD's neurological symptoms are primarily observed in the second decade of life. Conclusion: Recent studies have demonstrated the importance of genetic testing upon unexplained persistent elevation of liver enzymes. This case highlights the importance of carefully evaluating a patient with an unexplained liver disorder, even in the presence of primary neurological disease, as it can have significant therapeutic implications.
Mutation Detection in Tumor-Derived Cell Free DNA Anticipates Progression in a Patient With Metastatic Colorectal Cancer
Authors: Bruna D de Figueiredo Barros, Bruna E C Kupper, Samuel Aguiar Junior, Celso A L de Mello, Maria D Begnami, Rubens Chojniak, Sandro J de Souza, Giovana T Torrezan, Dirce M Carraro
Journal: Front Oncol (2018)
Keywords: ngs, colorectal cancer, ctdna, gene panel, liquid biopsy
MeSH terms: Case Reports

Background: The observation of tumor-derived cell-free DNA (ctDNA) in plasma brought new expectations to monitor treatment response in cancer patients. Case presentation: In an exploratory case of a 57-year-old man diagnosed with metastatic sigmoid adenocarcinoma, we used a hotspot panel of cancer-associated gene mutations to identify tumor-specific mutations in the primary tumor and metastasis.
Results:
Five mutations were detected (KRAS, p.Gly12Val; TP53, p.Arg175His; RB1, p.Ile680Thr; ALK, p.Gly1184Glu; and ERBB2, p.Lys860Lys), of which three were detected in both tissue types (primary tumor and metastasis). All five mutations were monitored in the ctDNA of six serial plasma samples. Only KRAS and TP53 mutations were detected at a high frequency in the first plasma sample. After 1 month of chemotherapy the allele frequencies of both mutations fell below the detection limit. From the third month of systemic treatment onward, the allele frequencies of both mutations were detectable in plasma, displaying a continual increase thereafter. The remaining three mutations were not detected in plasma samples. Signs of disease progression in ctDNA during the treatment period were evident while computed tomography (CT) measurements suggested stable metastatic lesions throughout the treatment. Conclusions: Liquid biopsies revealed tumor heterogeneity and predicted tumor progression, demonstrating the potential of ctDNA analysis to be a sensitive and specific tool for monitoring treatment responsivity and for early identification of treatment resistance.
A Rare Case of Angina Pectoris with the Longest Ectopic Left Main Coronary Artery Arising from Right Sinus of Valsalva and a Prepulmonic Course
Authors: Santosh Kumar Sinha, Vikas Mishra, Nasar Abdali, Karandeep Singh, Mukesh Jitendra Jha, Ashutosh Kumar
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Knowledge of the morphoanatomical characteristics of the main trunk of the left coronary artery as well as its variations is cornerstone of hemodynamic, correct interpretation of coronary angiogram and for revascularization purpose. The left main coronary artery (LMCA) ranges from 3 to 6 mm in diameter and may be up to 10 to 15 mm in length in humans. We here report a case of the longest anomalous LMCA (56 mm) reported so far in a 35-year-old man with chronic stable angina arising from right sinus of valsalva as seen on conventional angiogram and multidetector computerized tomogram (MDCT).
Perivascular epithelioid cell tumor of gastrointestinal tract: case report and review of the literature
Authors: Biyan Lu, Chenliang Wang, Junxiao Zhang, Roland P Kuiper, Minmin Song, Xiaoli Zhang, Shunxin Song, Ad Geurts van Kessel, Aikichi Iwamoto, Jianping Wang, Huanliang Liu
Journal: Medicine (Baltimore) (2015)
MeSH terms: Biomarkers, Tumor / metabolism, Gastrointestinal Neoplasms / diagnosis, Gastrointestinal Neoplasms / metabolism, Perivascular Epithelioid Cell Neoplasms / diagnosis, Perivascular Epithelioid Cell Neoplasms / metabolism, Case Reports, Research Support, Non-U.S. Gov't, Review, Actins / metabolism, Adult, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics, Diagnosis, Differential, Female, Gastrointestinal Neoplasms / genetics, Gene Fusion / genetics, Humans, MART-1 Antigen / metabolism, Melanoma-Specific Antigens / metabolism, Perivascular Epithelioid Cell Neoplasms / genetics, gp100 Melanoma Antigen, Actins, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Biomarkers, Tumor, MART-1 Antigen, Melanoma-Specific Antigens, PMEL protein, human, TFE3 protein, human, gp100 Melanoma Antigen

Perivascular epithelioid cell tumors of gastrointestinal tract (GI PEComas) are exceedingly rare, with only a limited number of published reports worldwide. Given the scarcity of GI PEComas and their relatively short follow-up periods, our current knowledge of their biologic behavior, molecular genetic alterations, diagnostic criteria, and prognostic factors continues to be very limited.We present 2 cases of GI PEComas, one of which showed an aggressive histologic behavior that underwent multiple combined chemotherapies. We also review the available English-language medical literature on GI PEComas-not otherwise specified (PEComas-NOS) and discuss their clinicopathological and molecular genetic features.Pathologic analyses including histomorphologic, immunohistochemical, and ultrastructural studies were performed to evaluate the clinicopathological features of GI PEComas, their diagnosis, and differential diagnosis. Immunohistochemistry, semiquantitative reverse transcriptase polymerase chain reaction, and DNA sequencing assays were carried out to detect the potential molecular genetic alterations in our cases. Microscopically, the tumors showed distinctive histologic features of PEComas-NOS, including fascicular or nested architecture, epithelioid or spindled cell type, and clear to eosinophilic cytoplasm. The tumor cells were immunohistochemically positive for melanocytic markers. Molecular pathological assays confirmed a PSF-TFE3 gene fusion in one of our cases. Furthermore, in this case microphthalmia-associated transcription factor and its downstream genes were found to exhibit elevated transcript levels.Knowledge about the molecular genetic alterations in GI PEComas is still limited and warrants further study.
Plexiform schwannoma involving the trachea and recurrent laryngeal nerve: a case report
Authors: Masashi Nagata, Hiroyuki Ito, Tomohiko Matsuzaki, Hideyuki Furumoto, Tetsuya Isaka, Teppei Nishii, Tomoyuki Yokose, Haruhiko Nakayama
Journal: Surg Case Rep (2015)
Keywords: mediastinal tumor, plexiform schwannoma, tracheal tumor

Plexiform schwannoma is an infrequent variant of schwannoma characterized grossly and microscopically by multi-nodular growth. Although plexiform schwannoma has such growth patterns, it is a benign tumor as well as a conventional schwannoma. It rarely infiltrates adjacent organs or arises from the organ itself. In this report, we describe a case in which plexiform schwannoma involved the tracheal wall and left recurrent laryngeal nerve to a great extent. As it was expected to be difficult to achieve complete resection even if the longer tracheal resection were performed, we preserved the trachea and resected as much of the tumor as possible. This report is thought to be the first to describe plexiform schwannoma infiltrating or growing from the trachea. Although the treatment decisions we made might be controversial, we believed we could make an accurate diagnosis and adequate treatment decision through surgery.
Jejunal perforation complicating dermatomyositis
Authors: Donghyoun Lee, Woo Seong Jeong, Chang Lim Hyun, Jinseok Kim
Journal: Int J Surg Case Rep (2019)
Keywords: dermatomyositis, intestinal, perforation, small bowel

Introduction:
Small bowel perforation is rare in dermatomyositis (DM). However, it is associated with high rates of morbidity and mortality. In line with the SCARE criteria, we describe a case of jejunal perforation for a DM patient (Agha et al., 2018 [1]).
Case presentation:
A 63-year-old woman had been treated for DM with high dose steroid 1 month prior to the onset of severe abdominal pain. Computed tomography (CT) revealed free air in abdominal cavity and fluid around the small bowel. She was diagnosed with small bowel perforation and underwent emergency surgery. Emergent surgery showed perforated jejunum which was resected. Pathologic reports revealed mesenteric small-vessel vasculitis with a perivascular inflammatory cell infiltration.
Conclusion:
Perforation of the small bowel for DM patients is rare. However, the early diagnosis of bowel perforation is difficult in DM because it can mimic other gastrointestinal manifestations such as ileus, ischemic colitis and peritonitis. To minimize mortality via an early diagnosis and a timely treatment, it is important to examine the patient's clinical history and employ a proper medical imaging modality such as CT even when lab findings are nonspecific and atypical.
The risk of regurgitation and pulmonary aspiration in a patient after gastric banding
Authors: Abdulvahab Thekkethodika
Journal: Case Rep Anesthesiol (2012)
MeSH terms: Case Reports

Laparoscopic gastric banding is a popular surgical treatment performed to control morbid obesity all over the world. Regurgitation of food material from stomach is very common in these patients. Remnants of food material may risk the airway for pulmonary aspiration. This case experience shows that despite the extended fasting period, airway is not protected from the risk of aspiration. Delayed gastric emptying and altered gastroesophageal motility keep the food materials in the stomach and precipitate regurgitation. So any such patient should be considered as full stomach. Airway manipulation in these patients should be under direct laryngoscopic vision and rapid sequence induction with endotracheal intubation should be considered as mandatory for general anesthesia.
Middle Colic Artery Originating from the Gastroduodenal Artery Discovered during a Whipple
Authors: Mei Li M Kwong, Jeffrey Pelton
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Hepatic artery variations occur in about one-fourth of the population, are frequent questions on standardized surgery exams, and are often discussed on teaching rounds with an attending surgeon. Intraoperatively, it is important to be aware of possible vascular anomalies in order to prevent ligation or injury of an essential vessel. This case report describes an extremely rare vascular anomaly encountered during a pancreaticoduodenectomy (Whipple operation). Our patient was a middle-aged woman who was incidentally diagnosed with a cystic pancreatic lesion. During the operation, an aberrant middle colic artery was found to be originating from the gastroduodenal artery instead of its usual origin at the superior mesenteric artery. This anomalous middle colic artery has not been previously reported in a live patient. It underscores the importance of being aware of possible vascular variations that may be encountered intraoperatively in order to prevent morbidity and mortality.
Stercoral Perforation in the Setting of Chronic Antipsychotic Use: A Case Report
Authors: Masha Osman, Michele Fiorentino, Michael Gwiazdowski, James E Gervasoni
Journal: Cureus (2023)
Keywords: antipsychotics, chronic constipation, chronic opioids, olanzapine, stercoral perforation
MeSH terms: Case Reports

Stercoral perforation is a rare form of colonic perforation with limited reports in the literature, accounting for less than 140 documented cases. This complication occurs due to increased intraluminal pressure created by fecal impaction, ultimately causing colonic ulceration and necrosis. It is most often seen in elderly or debilitated patients with chronic constipation. The long-term use of drugs or medications with side effects of chronic constipation such as opioids, antispasmodics, tricyclic antidepressants, and calcium channel blockers have been implicated in these cases. Here we present a case of stercoral perforation in a patient with short-term opioid use following an orthopedic procedure, but more likely complicated by long-term use of antipsychotics and antidepressants.
FIP1L1-PDGFRA fusion gene in T-lymphoblastic lymphoma: A case report
Authors: Salhah Ali, Yasmine Al-Qattan, Walaa Awny, Abdulaziz Hamadah, Karen Pinto, Salem AlShemmari
Journal: Cancer Rep (Hoboken) (2023)
Keywords: fip1l1-pdgfra, t lymphoblastic lymphoma, tll, eosinophilia
MeSH terms: Eosinophilia / diagnosis, Eosinophilia / drug therapy, Eosinophilia / genetics, Myeloproliferative Disorders / complications, Myeloproliferative Disorders / drug therapy, Myeloproliferative Disorders / genetics, Precursor Cell Lymphoblastic Leukemia-Lymphoma / diagnosis, Precursor Cell Lymphoblastic Leukemia-Lymphoma / drug therapy, Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / diagnosis, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / drug therapy, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics, Case Reports, Child, Humans, Imatinib Mesylate / therapeutic use, Oncogene Proteins, Fusion / genetics, Protein Kinase Inhibitors / therapeutic use, Receptor, Platelet-Derived Growth Factor alpha / genetics, Receptor, Platelet-Derived Growth Factor alpha / metabolism, Receptor, Platelet-Derived Growth Factor alpha / therapeutic use, mRNA Cleavage and Polyadenylation Factors / genetics, mRNA Cleavage and Polyadenylation Factors / therapeutic use, Receptor, Platelet-Derived Growth Factor alpha, Imatinib Mesylate, Protein Kinase Inhibitors, FIP1L1-PDGFRA fusion protein, human, Oncogene Proteins, Fusion, mRNA Cleavage and Polyadenylation Factors

Background:
T-lymphoblastic lymphoma (T-LBL) is an aggressive malignancy of T-lymphoid precursors, rarely co-occurring with myeloid/lymphoid neoplasms with eosinophilia (M/LNs-Eo), with consequent rearrangement of tyrosine kinase (TK)-related genes. The FIP1L1-PDGFRA fusion gene is the most frequent molecular abnormality seen in eosinophilia-associated myeloproliferative disorders, but is also present in acute myeloid leukemia (AML), T-lymphoblastic leukemia/lymphoma (TLL), or both simultaneously. T-LBL mainly affects children and young adults, involving lymph node, bone marrow, and thymus. It represents about 85% of all immature lymphoblastic lymphomas, whereas immature B-cell lymphomas comprise approximately 15% of all cases of LBL.
Case:
In this case report, we present an example of T cell lymphoblastic lymphoma with coexistent eosinophelia, treated successfully with a tyrosine-kinase inhibitor (TKI).
Conclusion:
FIP1L1-PDGFRA-positive T-LBL and myeloproliferative disorders have excellent response to low-dose treatment with (TKI) imatinib. Most patients achieve rapid and complete hematologic and molecular remission within weeks.
Retroperitoneal undifferentiated pleomorphic sarcoma with total nephrectomy: a case report and literature review
Authors: Kai Yu, Lan Wang, Fan Bu, Jingxuan Zhang, Yubin Hai, Rui Hu, Ji Lu, Xiaoju Shi
Journal: Front Surg (2023)
Keywords: case report, diagnosis, pleomorphic undifferentiated sarcoma, retroperitoneum, treatment
MeSH terms: Case Reports

Background:
Undifferentiated pleomorphic sarcoma (UPS) is a highly malignant soft tissue sarcoma with a poor prognosis and no clear effective clinical means for treatment, and there has been no significant progress in research within this field in recent years. This study aimed to investigate the epidemiology, etiology, clinical features, diagnostic modalities, various treatment modalities, and prognosis of retroperitoneal undifferentiated pleomorphic sarcoma and to contribute to the clinical management of this type of disease. In this study, we report a case of undifferentiated pleomorphic sarcoma with a primary origin in the retroperitoneum. Undifferentiated pleomorphic sarcoma occurring in the retroperitoneum is rarely reported.
Case description:
A 59-year-old man with abdominal distension and pain for 4 months presented to our hospital after the failure of conservative treatment. A 9.6 cm by 7.4 cm mass in the left retroperitoneum was found on a CT scan of the whole abdomen with three degrees of enhancement. After surgical treatment, the tumor and the left kidney were completely removed, and pathological examination and genetic sequencing showed an apparent undifferentiated pleomorphic sarcoma. The patient subsequently declined follow-up treatment and is currently alive and well.
Conclusions:
At the current level of clinical technology, the treatment of undifferentiated pleomorphic sarcoma is still in the exploratory stage, and the scarcity of clinical cases of this disease may have hindered the acquisition of clinical trials and research data for this disease. At present, the first choice of treatment for undifferentiated pleomorphic sarcoma is still radical resection. In the existing clinical studies, there are no strong data to support the effect of preoperative neoadjuvant chemoradiotherapy and adjuvant chemoradiotherapy in clinical practice. Similar to other diseases, the use of radiotherapy and chemotherapy before and after surgery may be a potential treatment for this disease in the future. Targeted therapy for this disease still needs further exploration, and we need more reports on related diseases to promote future treatment and research on this disease.
A Rare Case of Gastric Lipoma Presenting with Gastric Outlet Obstruction Treated Endoscopically
Authors: Ahmad Sharayah, Dileep C Unnikrishnan, Akhila Arya Perumangote Vasudevan, Noor Hajjaj, Rishi Raj, Kenneth Belitsis
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

An 85-year-old male referred to the Gastroenterology (GI) clinic with three-month history of failure to thrive and three-week history of nausea, vomiting, and melanotic stools. Ulcerative mass obstructing gastric outlet was found on endoscopy and on follow-up CT abdomen a homogeneous submucosal mass in the gastric antrum was identified. Radiological diagnosis of giant gastric lipoma was established and patient was evaluated for surgery and, however, was rendered unfit for surgery due to his comorbid conditions. Patient was taken for endoscopic resection of the mass. On endoscopy, only partial resection was achieved due to the size of the mass, but endoloops were deployed at the stalk at the end of the procedure in hope of limiting blood supply to the lesion. On six-week follow-up endoscopy, patient's mass had completely disappeared with limited scar tissue at the site.
Uremia Preventing Osmotic Demyelination Syndrome Despite Rapid Hyponatremia Correction
Authors: Srinadh Annangi, Snigdha Nutalapati, Srikanth Naramala, Pradeep Yarra, Khalid Bashir
Journal: J Investig Med High Impact Case Rep (2020)
Keywords: cerebral edema, dialysis, hyponatremia, myelinolysis, uremia
MeSH terms: Azotemia / therapy, Demyelinating Diseases / prevention & control, Hyponatremia / therapy, Renal Dialysis / adverse effects, Case Reports, Adult, Azotemia / blood, Azotemia / physiopathology, Humans, Hyponatremia / blood, Hyponatremia / physiopathology, Magnetic Resonance Imaging, Male, Osmotic Pressure, Sodium / blood, Syndrome, Treatment Outcome, Sodium

Hyponatremia is the most common electrolyte abnormality encountered both in the inpatient and outpatient clinical settings in the United States. Rapid correction leads to a deranged cerebral osmotic gradient causing osmotic demyelination syndrome. Coexisting azotemia is considered to be protective against osmotic demyelination syndrome owing to its counteractive effect on osmolarity change that occurs with rapid hyponatremia correction. In this article, we report the case of a 37-year-old male who presented with altered mentation, acute azotemia, and severe electrolyte derangements, with serum blood urea nitrogen 160 mg/dL, creatinine 8.4 mg/dL, sodium 107 mEq/L, potassium 6.1 mEq/L, bicarbonate 7 mEq/L, and anion gap of 33. Given refractory hyperkalemia with electrocardiogram changes, emergent dialysis was performed. Despite our efforts to avoid rapid correction, serum sodium was corrected to 124 mEq/L and blood urea nitrogen decreased to 87 mg/dL at the end of the 5-hour dialysis session. Fortunately, hospital course and 4-week post-discharge clinic follow-ups were uncomplicated with no neurological sequela confirmed by neurological examination and magnetic resonance imaging.
A Rare Case of Renal Thrombotic Microangiopathy and Focal Segmental Glomerulosclerosis Secondary to Plasma Cell Leukemia
Authors: Justin Komisarof, Jessica Forman, Bruce Goldman, Chauncey Syposs, Frank Passero, Ellie Garbade
Journal: Case Rep Hematol (2023)
MeSH terms: Case Reports

Plasma cell dyscrasias are a subset of hematological malignancies involving the production of monoclonal immunoglobulins. This spectrum of disorders includes asymptomatic conditions such as monoclonal gammopathy of unknown significance as well as extremely aggressive malignancies such as plasma cell leukemia. Monoclonal gammopathies are occasionally associated with renal failure, which can occur via many pathophysiological processes. The most common of these is light chain cast nephropathy, but many rare renal complications exist, including thrombotic microangiopathy (TMA) and focal segmental glomerulosclerosis (FSGS). Here, we report a patient with new renal failure with features of TMA and FSGS on biopsy and found to be secondary to plasma cell leukemia.
Lung cancer associated with neurofibromatosis type I
Authors: Anastasia Oikonomou, Dimitrios Mikroulis, Paraskevi Mintzopoulou, Lawal Lukman, Panos Prassopoulos
Journal: Case Rep Radiol (2013)

Lung cancer associated with neurofibromatosis type I is considered very rare, and only a few case reports have been described in the literature. There is some evidence that a genetic linkage between neurofibromatosis and carcinogenesis in the lung may exist. We present a 42-year-old female, lifetime nonsmoker with a known history of neurofibromatosis type I, free of respiratory symptoms, who underwent a low-dose HRCT of the lungs to investigate any occult interstitial lung changes. A solitary ill-defined nodule of a ground-glass opacity was detected incidentally in the middle lobe with no associated lymphadenopathy or metastatic disease. Several thin-walled lung cysts were also seen in the lower lobes. Histological analysis of the nodule after middle lobectomy revealed well-differentiated adenocarcinoma. The patient did not receive systemic chemotherapy or radiotherapy. She was free of disease on 18-month followup.