OpenMed/multicare-articles huggingface dataset:
A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome
Authors: Muhammad U Rashid, Humaira Naeemi, Noor Muhammad, Asif Loya, Muhammed A Yusuf, Jan Lubiński, Anna Jakubowska, Ute Hamann
Journal: Hered Cancer Clin Pract (2016)
Keywords: endometrial cancer, hnpcc, hereditary breast and ovarian cancer, ls, msh2, pakistan
MeSH terms: Case Reports

Background:
Hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome (LS) account for a significant proportion of inherited gynecologic malignancies, mainly caused by pathogenic germline mutations in the BRCA1 and BRCA2 genes or in mismatch repair (MMR) genes, such as MLH1 and MSH2. Women harboring deleterious mutations in these genes have increased life-time risks of developing a number of malignancies including ovarian cancer. Since there is a phenotypic overlap of HBOC and LS, timely identification of individuals at-risk of a particular syndrome is crucial in order to optimize cancer risk management.
Case presentation:
We report a novel pathogenic MSH2 mutation, c.2656G > T, which was identified in a 67-year-old female patient with breast cancer, who had previously tested negative for a deleterious mutation in the breast cancer susceptibility genes BRCA1, BRCA2, CHEK2 or RAD51C. The patient reported a personal history of endometrial cancer diagnosed at age 48, and a strong family history of breast and ovarian cancer, as well as several other malignancies within the spectrum of LS. The novel mutation was also found in the index patient's daughter and a niece, who were diagnosed with endometrial and ovarian cancer, respectively. Breast and endometrial tumors from c.2656G > T mutation carriers showed loss of MSH2 and MSH6 protein expression. The mutation was absent in the control population.
Conclusions:
Our finding suggests that testing for MMR genes may be of benefit to BRCA1/2 negative families with overlapping HBOC and LS phenotype in Pakistan. It is clinically significant to identify individuals harboring mutations in genes linked with a particular syndrome so that they can benefit from targeted life-saving cancer surveillance and preventive strategies.
Cholangiocarcinoma Arising from a Type VI Biliary Cyst: A Case Report and Review of the Literature
Authors: İlkay Çamlıdağ, Mehmet Selim Nural, Murat Danacı, İlhan Karabıçak, Kağan Karabulut
Journal: Case Rep Radiol (2015)

Cystic dilatations of the cystic duct which are suggested as type VI biliary cysts are very rare and many of them go unrecognized or are confused with other cysts until the operation although they are obvious on imaging studies. They can present with fusiform or saccular dilatations and can be accompanied by common bile duct dilatations. It is important to identify these cysts as they share the same characteristics as the other biliary cyst types and can be complicated with malignancy. We herein present a very unusual case of a cholangiocarcinoma arising from a type VI biliary cyst in a 58-year-old female patient and review the literature. The patient presented with jaundice, weight loss, and abdominal pain. On imaging, the cystic duct and common bile duct were fusiformly dilated and had a wide communication. There was a mass filling the distal parts of both ducts. The patient was urgently operated on after perforation following ERCP. Histopathology was compatible with a type VI biliary cyst and an associated cholangiocarcinoma.
Case Report: Brainstem angiocentric glioma presenting in a toddler child-diagnostic and therapeutic challenges
Authors: Zita Reisz, Bence Laszlo Radics, Peter Nemes, Ross Laxton, Laszlo Kaizer, Krisztina Mita Gabor, Timea Novak, Pal Barzo, Safa Al-Sarraj, Istvan Bodi
Journal: Pathol Oncol Res (2023)
Keywords: dna methylation profiling, myb
MeSH terms: Astrocytoma / pathology, Brain Neoplasms / diagnosis, Brain Neoplasms / pathology, Brain Neoplasms / therapy, Glioma / pathology, Case Reports, Brain Stem / pathology, Child, Preschool, Humans, Male

Introduction: Angiocentric gliomas (AG) in brainstem location are exceedingly rare and might cause differential diagnostic problems and uncertainty regarding the best therapeutic approach. Hereby, we describe the clinicopathological findings in a brainstem AG presenting in a toddler child and review the literature. Case report: A 2-year-old boy presented with 5 weeks history of gait disturbances, frequent falls, left-sided torticollis and swallowing problems. MRI head showed a T2-hyperintense, partly exophytic mass lesion centred in the pontomedullary region, raising the possibility of diffuse midline glioma. The exophytic component was partially resected by suboccipital craniotomy, leaving intact the infiltrative component. Ventriculoperitoneal shunt was implanted due to postoperative hydrocephalus. Histological examination revealed a moderately cellular tumour consisted of bland glial cells infiltrating the brain parenchyma and radially arranged around the blood vessels. By immunohistochemistry, the tumour strongly expressed S100 and GFAP in addition to intense nestin positivity, while OLIG2 was negative in the perivascular tumour cells. DNA methylation array profiled the tumour as "methylation class diffuse astrocytoma, MYB or MYBL1-altered subtype B (infratentorial)" and an in-frame MYB::QKI fusion was identified by RNA sequencing, confirming the diagnosis of angiocentric glioma. The patient has been initially treated with angiogenesis inhibitor and mTOR inhibitor, and now he is receiving palliative vinblastine. He is clinically stable on 9 months follow-up. Conclusion: Brainstem AG may cause a diagnostic problem, and the surgical and oncological management is challenging due to unresectability and lack of response to conventional chemo-radiation. In the future, genetically-tailored therapies might improve the prognosis.
Rectal prolapse as the initial presentation of rectal cancer-A case report
Authors: Oliver Jurić, Nataša Lisica Šikić, Vanja Žufić, Luka Matak, Robert Karlo, Jakov Mihanović
Journal: Front Surg (2023)
Keywords: anemia, case report, emergency department (ed), rectal cancer, rectal prolapse
MeSH terms: Case Reports

Herein we report the case of a 63-year-old female tourist who presented to our Emergency Department with complete rectal prolapse. She had complained of diarrhea with traces of blood and mucus and had experienced fatigue after hiking. After the initial evaluation, it became clear that prolapse bares a large rectal tumor as a leading point. The prolapse was reduced under general anesthesia, along with a tumor biopsy. Further workup confirmed locally advanced adenocarcinoma of the rectum, which was treated with neoadjuvant chemoradiation followed by curative surgery in another hospital after repatriation. Rectal prolapse affects people of all ages, but it is more common in older adults, particularly women. Treatment options vary depending on the severity of the prolapse and can range from conservative measures to surgical interventions. This case report highlights the importance of early recognition and appropriate management of rectal prolapse in the emergency setting and the possibility of an underlying malignancy.
Dental Abnormalities in Pituitary Dwarfism: A Case Report and Review of the Literature
Authors: Franco Ferrante, Sergio Blasi, Rolando Crippa, Francesca Angiero
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Hypopituitarism is a disorder caused by a reduced level of trophic hormones that may be consequent on different destructive processes. The clinical manifestations depend on the type of hormone involved. A deficiency of growth hormone (GH) in children causes the lack of growth known as pituitary dwarfism. The case is reported of a patient with pituitary dwarfism, multiple dental anomalies, functional prosthetic problems, and a revision of the literature. She was subjected to prosthetic rehabilitation without surgical intervention, using zirconium substructures, thus eliminating the potential complications that may require trauma surgery. The therapeutic approach adopted led to excellent results and restored an aesthetic smile.
Case Report: A successful case of toxic epidermal necrolysis treated with plasmapheresis therapy
Authors: Wahyu Lestari, Vella Vella, Teuku Yasir, Teuku Zulfikar
Journal: F1000Res (2022)
Keywords: scorten score, ten, plasmapheresis, steroid, toxic epidermal necrolysis
MeSH terms: Stevens-Johnson Syndrome / diagnosis, Case Reports, Adrenal Cortex Hormones / therapeutic use, Adult, Female, Hospitalization, Humans, Plasmapheresis / adverse effects, Plasmapheresis / methods, Skin, Adrenal Cortex Hormones

Toxic epidermal necrosis (TEN) is rare and can be life-threatening for patients. Appropriate management of TEN patients could give optimal results and prevent complications. One treatment modality for TEN is plasmapheresis, which is rarely available in most cases with severe TEN. Here we reported a successful treatment of severe TEN with plasmapheresis. A 40-year-old woman under tuberculosis therapy complained of shortness of breath that began four days prior to hospital admission and worsened ever since. The patient's skin was peeling with red spots and rashes all over the body for a week. During the examination, the patient was compos mentis, and the SCORTEN score was 2 with 12.1% risk of mortality rate. Dermatological examination of the face, trunk and extremities found extensive erosions, loose bullae filled with clear fluid, brown crusts, and generalized distribution with more than 30% epidermolysis. The patient was diagnosed with toxic epidermal necrolysis caused by antituberculosis therapy. We treated the patient by discontinuing the suspected drugs and administering the corticosteroids, but no improvement was observed. The patient underwent two cycle plasmaphereses with 5% albumin, resulting in 1.2 liter of plasma exchange. Re-epithelialization was observed after three days, and the patient was discharged on day 8. This case-report highlights the important role of plasmapheresis in treating the TEN patients. However, a study with larger sample sizes is warranted to validate the efficacy of plasmapheresis in TEN.
Chronic Encapsulated Expanding Thalamic Hematoma Associated with Obstructive Hydrocephalus following Radiosurgery for a Cerebral Arteriovenous Malformation: A Case Report and Literature Review
Authors: Jun Takei, Toshihide Tanaka, Yohei Yamamoto, Akihiko Teshigawara, Satoru Tochigi, Yuzuru Hasegawa, Yuichi Murayama
Journal: Case Rep Neurol Med (2016)

Chronic encapsulated intracerebral hematoma is a unique type of intracerebral hematoma accompanied by a capsule that is abundant in fragile microvasculature occasionally causing delayed regrowth. A 37-year-old man who had undergone radiosurgery for an arteriovenous malformation (AVM) causing intracerebral hematoma in the left parietal lobe presented with headache, vomiting, and progressive truncal ataxia due to a cystic lesion that had been noted in the left thalamus, leading to progressive obstructive hydrocephalus. He underwent left frontal craniotomy via a transsylvian fissure approach, and the serous hematoma was aspirated. The hematoma capsule was easy to drain and was partially removed. Pathological findings demonstrated angiomatous fibroblastic granulation tissue with extensive macrophage invasion. The concentration of vascular endothelial growth factor (VEGF) was high in the hematoma (12012 pg/mL). The etiology and pathogenesis of encapsulated hematoma are unclear, but the gross appearance and pathological findings are similar to those of chronic subdural hematoma. Based on the high concentration of VEGF in the hematoma, expansion of the encapsulated hematoma might have been caused by the promotion of vascular permeability of newly formed microvasculature in the capsule.
Case report: A 10-year prognosis of neonatal diabetes caused by a novel INS gene mutation
Authors: Mengting Tian, Yi Feng, Yanyan Liu, Hua Wang
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: ins, autosomal recessive inheritance, diabetes case study, diabetes follow-up, diabetes homozygosity, diabetes treatment, neonatal diabetes mellitus (ndm)
MeSH terms: Blood Glucose, Diabetes Mellitus / diagnosis, Diabetes Mellitus / genetics, Case Reports, Humans, Insulin / genetics, Mutation, Prognosis, United States, Blood Glucose, Insulin, Diabetes Mellitus, Permanent Neonatal

Background:
Neonatal diabetes mellitus (NDM) is a rare form of diabetes. We analyzed a novel insulin gene (INS) mutation of a Chinese permanent neonatal diabetes mellitus (PNDM) patient to explore the clinical and genetic characteristics and put forward some opinions on treatment and its long-term management.
Case description:
A proband was recruited who was diagnosed with permanent neonatal diabetes on his first day after birth. His clinical and follow-up data were collected for 10 years. All of the family members were given an oral glucose tolerance test. Whole exome sequencing was performed on the proband, and the genomic DNA of family members was used for verification by first-generation Sanger sequencing technology. The pathogenic variant was screened according to the American College of Medical Genetics and Genomics classification guidelines and the clinical phenotype of the patient.
Diagnostic assessment:
The proband was diagnosed on the first day after birth, presenting with low birth weight, progressive hyperglycemia, and insulin deficiency. His parents and grandfathers were confirmed to have normal blood sugar levels. A novel homozygous mutation of c.1T>C in the INS gene was detected in the proband, located in the initiation codon. The heterozygous mutations were found in four family members, including his mother, father, and grandfathers. With regular insulin injections, long-term regular follow-up, close monitoring of blood glucose, balanced exercise and diet, and psychological and mutual family support, the blood glucose level was well controlled; there were no acute or chronic complications during this decade. The patient's growth and nervous system development are now no different to those of the same age.
Conclusion:
A favorable prognosis is presented for a permanent neonatal diabetes mellitus (PNDM) patient with a novel mutation in the INS gene in China. The present findings indicate that the genetic diagnosis, early use of insulin, close monitoring of blood glucose, and psychological and mutual family support for patients with INS mutation are necessary for their favorable long-term prognosis.
Metastatic squamous cell carcinoma of colon from esophageal cancer
Authors: Natasha Garg, Constance Stoehr, Yan Shi Zhao, Heather Rojas, Chung-Tsen Hsueh
Journal: Exp Hematol Oncol (2017)
Keywords: colonic metastasis, esophageal squamous cell carcinoma, radiation
MeSH terms: Case Reports

Background:
Esophageal cancer including squamous cell carcinoma (SCC) and adenocarcinoma represents 4% of all cancers in the United States. Patients with esophageal cancer frequently present with locally advanced disease, and about 40% of patients have evidence of metastatic disease on presentation. Common sites of metastasis include liver, lung and bone. Here, we present a rare case of colonic metastasis from primary esophageal SCC.
Case presentation:
A 60-year-old Caucasian male with a history of 20-pack-year cigarette smoking received surgery and adjuvant chemoradiotherapy for locally advanced SCC of larynx. Approximately 9 months later, he developed dysphagia, and found to have a esophageal SCC in the mid-esophagus with regional lymph node involvement. He underwent chemoradiation treatment with good response and improved symptoms but declined subsequent surgical resection for esophageal cancer. About 1 year after the diagnosis of esophageal cancer, he developed blood streaked bowel movement and severe anemia. Colonoscopy showed a 3-cm mass in the proximal ascending colon; biopsy showed metastatic SCC, consistent with metastasis from esophageal primary. He subsequently received palliative radiation to the ascending colon metastatic tumor with improvement of anemia, and remained transfusion independent for more than 3 months.
Conclusions:
Colonic metastasis from esophageal SCC is rare, and associated with poor prognosis. There are no definite features in terms of location, histological differentiation etc. that contribute to colonic metastasis from primary esophageal SCC. The goal of treatment is palliative and data from our and other case reports support the use of chemotherapy and radiation for symptom improvement and disease control.
Autologous sapheno-saphenous bypass collateral development in the setting of chronic unilateral iliac vein occlusion
Authors: Julie Kelman, Nicholas Xiao, Jeremy D Collins, Jennifer K Karp, Heron Rodriguez, Kush R Desai
Journal: CVIR Endovasc (2018)
Keywords: chronic iliac vein occlusion, may-thurner syndrome, saphenous collaterals

Background:
Chronic iliac vein occlusion can result in the development of a variety of collateral venous drainage pathways. While several drainage pathways have been well documented, autologous sapheno-saphenous bypass collateral drainage has not been described. This novel collateral drainage pathway is readily visible on cross sectional imaging, may serve as a diagnostic indicator of chronic obstructive venous pathology, and may hint at the underlying etiology.
Case presentation:
This brief report depicts findings and technical considerations in two cases of venous recanalization of sapheno-saphenous collaterals in the setting of chronic unilateral iliac vein occlusion. In both cases at one-month follow-up, the patients' pain had resolved, edema had improved, and computed tomographic venography demonstrated stent patency.
Conclusions:
Identification of a sapheno-saphenous collateral can provide an important clue to the underlying venous obstructive pathology, therefore guiding corrective intervention.
Aneurysm and neurocysticercosis: casual or causal relationship? Case report and review of the literature
Authors: Svetlana Agapejev, João Luiz Parra-Marinello, Rodrigo Bazan, Anete Kinumi Ueda, Marco Antonio Zanini
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Four cases of suggestive inflammatory aneurysms in patients with neurocysticercosis have been described. We report a case of a 49-year-old woman who presented with subarachnoid haemorrhage from a right middle cerebral artery bifurcation aneurysm and had a casual relationship with neurocysticercosis. At surgery, a viable cysticercus without signs of inflammation or thickened leptomeninges was found in the distal position of the aneurysm. Postoperatively, the patient received albendazole and dextrochlorpheniramine. In the subsequent three years, the patient was asymptomatic and took drugs to prevent convulsion and arterial hypertension. The relationship between NCC and the presence of cerebral aneurysm is discussed.
Human parvovirus B19 infection in a renal transplant recipient: a case report
Authors: Michelle Teodoro Alves, Sandra Simone Vilaça, Maria das Graças Carvalho, Ana Paula Fernandes, Luci Maria Sant' Ana Dusse, Karina Braga Gomes
Journal: BMC Res Notes (2013)
MeSH terms: Kidney Transplantation, Parvoviridae Infections / diagnosis, Parvovirus B19, Human / isolation & purification, Case Reports, Adult, Female, Humans

Background:
Parvovirus B19 presents tropism for human erythroid progenitor cells, causing chronic anemia in organ transplant recipients, due to their suppressed humoral and cellular responses. Diagnosis may be achieved through serological tests for detection of anti-B19 antibodies. However, renal transplant recipients are not routinely tested for parvovirus B19 infection, since there is scanty data or consensus on screening for B19 infection, as well as for treatment or preventive management of transplanted patients.
Case presentation:
Herein we report a kidney transplant recipient, who was unresponsive to treatment of severe anemia, and presented hypocellular hematopoietic marrow, megaloblastosis and hypoplasia of erythroid lineage with larger cells with clear nuclei chromatin and eosinophilic nuclear inclusions. This patient was seropositive for Epstein-Barr and Cytomegalovirus infections and negative for anti-parvovirus B19 IgM and IgG antibodies, although symptoms were suggestive of parvoviruses infection. A qualitative polymerase chain reaction testing for B19 in serum sample revealed positive results for B19 virus DNA.
Conclusion:
This case report suggests that the diagnostic process for parvovirus B19 in renal transplant recipients should include a polymerase chain reaction assay to detect B19-DNA, since specific serological tests may be unreliable given their impaired humoral responses. These results also indicate the importance of considering parvovirus B19 infection in the differential diagnosis of persistent anemia in transplanted patients.
Carotidynia: A Rare Diagnosis for Unilateral Neck Pain Revealed by Cross-Sectional Imaging
Authors: Corrado Santarosa, Salvatore Stefanelli, Roman Sztajzel, Pravin Mundada, Minerva Becker
Journal: Case Rep Radiol (2017)
MeSH terms: Case Reports

Idiopathic carotidynia (IC) is a rare and poorly understood syndrome consisting of unilateral neck pain, tenderness, and increased pulsations over the affected carotid bifurcation. A growing body of evidence supports the hypothesis that IC is a distinct clinicopathologic entity with characteristic imaging features. We report the case of a 34-year-old Caucasian male presenting with intense unilateral neck pain in the emergency setting. Computed tomography and ultrasonography revealed fusiform eccentric thickening of the ipsilateral carotid bifurcation without vessel narrowing. Contrast-enhanced magnetic resonance imaging depicted major perivascular enhancement without evidence of dissection. Further imaging and laboratory work-up excluded vasculitis. The diagnosis of IC was made. The patient was treated with nonsteroidal anti-inflammatory drugs and symptoms and imaging findings disappeared within a few weeks. Cross-sectional imaging allows not only ruling out IC mimickers but also making the correct diagnosis of this rare condition, in particular, as the clinical presentation of IC is often nonspecific.
High-Grade Glioma of the Ventrolateral Medulla in an Adult: Case Presentation and Discussion of Surgical Considerations
Authors: Angela Spurgeon, Viet Le, Sanjay Konakondla, Douglas C Miller, Tamera Hopkins, N Scott Litofsky
Journal: Case Rep Neurol Med (2016)

Background. High-grade gliomas of the brainstem are rare in adults and are particularly rare in the anterolateral medulla. We describe an illustrative case and discuss the diagnostic and treatment issues associated with a tumor in this location, including differential diagnosis, anatomical considerations for options for surgical management, multimodality treatment, and prognosis. Case Description. A 69-year-old woman presented with a 3-week history of progressive right lower extremity weakness. She underwent an open biopsy via a far lateral approach with partial condylectomy, which revealed a glioblastoma. Concurrent temozolomide and radiation were completed; however, she elected to stop her chemotherapy after 5.5 weeks of treatment. She succumbed to her disease 11 months after diagnosis. Conclusions. Biopsy can be performed relatively safely to provide definitive diagnosis to guide treatment, but long-term prognosis is poor.