OpenMed/multicare-articles huggingface dataset:
Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients
Authors: Rosa M Paragliola, Rosa M Lovicu, Giampaolo Papi, Ettore Capoluongo, Angelo Minucci, Giulia Canu, Alfredo Pontecorvi, Salvatore M Corsello
Journal: Front Endocrinol (Lausanne) (2018)
Keywords: l56m, men2, ret, medullary thyroid carcinoma, pheochromocytoma
MeSH terms: Case Reports

RET (REarranged during Transfection) proto-oncogene variants are essential for the development of familial and sporadic forms of medullary thyroid carcinoma (MTC). The most frequent variants are usually located in exons 10, 11, and 13 through 16 of the RET gene. We report two cases of apparently sporadic MTC associated with the variant in exon 2 of RET gene. Patient 1, a 62-year old man who had undergone adrenalectomy for a 5 cm pheochromocytoma, was screened for type 2 multiple endocrine neoplasia (MEN 2) which showed elevated basal and post-intravenous calcium gluconate calcitonin levels. A fine needle aspiration biopsy (FNAB) confirmed the suspicion of MTC. The patient underwent total thyroidectomy and lymphadenectomy, and the histology showed C-cell hyperplasia with medullary microcarcinoma. Patient 2, a 57 years old woman, underwent total thyroidectomy for toxic multinodular goiter. Pre-operative FNAB had shown benign features, while basal calcitonin levels were only borderline increased. Final histology revealed medullary multifocal microcarcinoma. Genetic testing for RET protoncogene on DNA extracted from peripheral blood was performed in both patients and a missense variant on exon 2 (c.166C>A, p.L56M) was identified. To our knowledge, these are the first time two cases of MTC associated to RET p.L56M variant. Interestingly, one patient had also a pheochromocytoma suggesting a possible pathogenetic role of this variant in the genesis of MEN2A. While the association of this variant with MTC or MEN2A has been never reported, it has been described in association with Hirschsprung's disease.
Endometriosis Nodule Causing Spontaneous Haemoperitoneum in Pregnancy: A Case Report and Literature Review
Authors: Junaid Rafi, Geetha Mahindrakar, Debjani Mukhopadhyay
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Spontaneous haemoperitoneum in pregnancy (SHiP) due to endometriosis is a very rare condition and this is a case of a 41-year-old primigravida, who presented at 32 weeks with sudden onset of severe lower abdominal pain without any uterine activity. This was a dichorionic-diamniotic twin pregnancy, following in vitro fertilisation for subfertility secondary to severe endometriosis. On admission, pain score was eight, with ten being the maximum of the scale. The vital signs were stable. Abdominal palpation revealed generalised tenderness with no guarding or palpable contraction. There was no evidence of bleeding and the cervical os was closed on speculum examination. The cardiotocograph (CTG) was pathological and a plan was made to deliver the babies with emergency caesarean section. Intraoperatively, there was massive haemoperitoneum which was managed successfully with the involvement of multidisciplinary input from general surgeons and urologists with optimum maternal and fetal outcome.
Clopidogrel-induced thrombotic thrombocytopenic purpura-hemolytic uremic syndrome after coronary artery stenting
Authors: Shawn M Manor, Gregory S Guillory, Suresh P Jain
Journal: Pharmacotherapy (2004)
MeSH terms: Hemolytic-Uremic Syndrome / chemically induced, Platelet Aggregation Inhibitors / adverse effects, Purpura, Thrombotic Thrombocytopenic / chemically induced, Ticlopidine / adverse effects, Ticlopidine / analogs & derivatives, Case Reports, Clopidogrel, Coronary Disease / therapy, Hemolytic-Uremic Syndrome / complications, Hemolytic-Uremic Syndrome / physiopathology, Humans, Male, Middle Aged, Purpura, Thrombotic Thrombocytopenic / complications, Purpura, Thrombotic Thrombocytopenic / physiopathology, Stents, Platelet Aggregation Inhibitors, Clopidogrel, Ticlopidine

The antiplatelet drug clopidogrel has largely replaced ticlopidine, due to an association between ticlopidine and thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP-HUS). Clopidogrel at first was thought to be void of this potentially fatal adverse effect, but recent case reports have called that assumption into question. Even with proper treatment (plasma exchange), TTP-HUS can persist for weeks. Clinicians should be aware of this possible adverse effect because prompt therapy is imperative for patients' survival. Earlier reports of clopidogrel-related TTP-HUS have involved patients who had received at least 72 hours of therapy. We describe a case of TTP-HUS in a patient who had received only a 300-mg loading dose of clopidogrel.
Severe Blunt Liver Injury Complicated by Delayed Massive Hemobilia in a Toddler: A Case Report and Literature Review
Authors: Xiaoming Liu, Qianqian Sun, Wenjing Sun, Qiong Niu, Zhu Wang, Chen Liu, Tingliang Fu, Lei Geng, Xiaomei Li
Journal: Front Surg (2022)
Keywords: blunt hepatic trauma, case report, delayed massive hemobilia, injury prevention, toddler
MeSH terms: Case Reports

Introduction:
Unintentional injuries remain a leading cause of disability among children. Although most of the pediatric patients suffering blunt liver injury can be successfully treated with non-operative therapy, the diagnosis and management of delayed life-threatening hemobilia following severe blunt liver injury, especially in the pediatric population, remain a challenge for clinicians.
Case presentation:
A previously healthy 2-year-old girl suffered a severe blunt liver injury related to an electric bike, which was inadvertently activated by herself. She initially received non-operative therapy and was in a stable condition in the first 2 weeks. On the 16th and 22nd postinjury days, the patient presented with life-threatening massive hemobilia, which was confirmed via repeat emergent gastroscopy and hepatic arterial angiography. An emergency selective transarterial embolization of the involved branch of the left hepatic artery was successfully performed. The patient recovered uneventfully, and long-term follow-up was needed owing to a mild dilatation of the left intrahepatic bile duct.
Discussion:
Incidental injury in children should be considered as a major public health issue and preventive measures should be taken to reduce its occurrence. Delayed massive hemobilia after severe blunt liver trauma is rare, and its accurate and timely diagnosis via emergency hepatic arterial angiography and selective angioembolization may allow prompt and optimal management to achieve good outcomes in the pediatric population.
Isolated poorly differentiated cancer (insular) in a thyroglossal cyst: a case report
Authors: Anas Mohammad Abu Rumman, Majdi Abdelmahdi Alsoudi, Hamzeh Mohammad Qasimeh, Wajdi Abed Alnajada, Ruba Yaseen Al Shunnaq
Journal: Pan Afr Med J (2021)
Keywords: insular carcinoma, case report, thyroglossal cyst, thyroglossal duct
MeSH terms: Thyroglossal Cyst / diagnosis, Thyroid Neoplasms / diagnosis, Thyroidectomy, Case Reports, Biopsy, Fine-Needle, Humans, Iodine Radioisotopes / administration & dosage, Male, Thyroglossal Cyst / pathology, Thyroglossal Cyst / surgery, Thyroid Cancer, Papillary / diagnosis, Thyroid Cancer, Papillary / pathology, Thyroid Cancer, Papillary / surgery, Thyroid Neoplasms / pathology, Thyroid Neoplasms / surgery, Thyrotropin / blood, Young Adult, Iodine Radioisotopes, Thyrotropin

A 23-year-old young man presented with a painless neck mass that he noticed slowly growing over the past 4 years. Neck imaging showed an irregular 5 x 5 cm mixed solid and cystic mass in mid neck that looked suspicious but normal looking thyroid and no neck lymphadenopathy. Thyroid uptake scan was within normal also. Fine needle biopsy (FNA) from thyroglossal cyst (TGC) was malignant, Bethesda VI. Multi-disciplinary meeting discussed the case and advised for removal of both the TGC cancer and total thyroidectomy. After patient counseling, he underwent Sistrunk procedure for excision of the TGC mass and total thyroidectomy. histopathological examination revealed a poorly differentiated carcinoma of insular type in TGC with unremarkable thyroid gland. Patient recovery was uneventful. Post-operative multi-disciplinary meeting discussed the histopathology results and advised for post-operative radioactive iodine therapy (RAI) and thyroxine suppression followed by serum thyroid stimulating hormone (TSH) and thyroglobulin (TG). We shall review the diagnostic and management considerations of our case having this rare cancer.
Massive pulmonary thromboembolism and stroke
Authors: Poobalan Naidoo, Richard Hift
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

A 38-year-old HIV-positive female, recently started on antiretroviral therapy, presented in extremis. She had features suggestive of an HIV-associated cardiomyopathy complicated by the following problems: a four-day-old stroke, extensive deep venous thrombosis, and massive pulmonary embolism. She received intravenous streptokinase with rapid improvement, both haemodynamically and, unexpectedly, neurologically. Our case illustrates that a positive outcome is potentially possible where the two conditions coincide.
Case report: Complete atrio-ventricular block successfully reversed in newly diagnosed primary cardiac B-cell lymphoma
Authors: Jiahui Mao, Yitong Xu, Mingfang Zhu, Luqun Wang, Yu Hou
Journal: Front Med (Lausanne) (2023)
Keywords: b-cell lymphoma, anthracycline, atrioventricular block, case report, primary cardiac lymphoma
MeSH terms: Case Reports

Primary cardiac tumors are extremely uncommon and primary cardiac lymphoma (PCL) is an even rarer subset. A definite diagnosis can be delayed, which increases the likelihood of a poor prognosis. We report a case involving a 64-year-old male who presented with dyspnea, palpitation, and third-degree atrioventricular block (AVB) secondary to primary cardiac B-cell lymphoma that was diagnosed via endomyocardial biopsy (EMB) and multimodality imaging. Chemotherapy was initiated using rituximab, cyclophosphamide, vindesine, and prednisone (R-COP) followed by implantation of an artificial capsule pacemaker. Third-degree AVB vanished, and the subsequent cycle of treatment was adjusted as R-CDOP (rituximab, cyclophosphamide, doxorubicin liposome, vindesine, and prednisone), with aspirin and rosavastatin to prevent ischemic events. So far, the patient had a good clinical course and normal electrocardiogram. This case underscores the importance of EMB in the diagnosis of heart neoplasms. It is worth noting that anthracycline is not contraindicated in PCL.
Extreme and Cyclical Blood Pressure Elevation in a Pheochromocytoma Hypertensive Crisis
Authors: V Larouche, N Garfield, E Mitmaker
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Pheochromocytomas are rare adrenal neoplasms characterized by excess secretion of catecholamines. We describe the case of a 65-year-old man, known for hypertension, with no family history of hereditary pheochromocytoma syndromes. He reported a two-year history of flushing, systolic blood pressure surges to 200 mmHg, headaches, tremors, and syncope. His initial workup revealed elevated 24h urine catecholamines and metanephrines. An adrenal MRI in March 2017 showed a large 7.6 cm heterogeneous right adrenal lesion. Given orthostatic hypotension, his final preoperative dose was limited to a low dose of terazosin and metoprolol. In the operating room, shortly after intubation and Foley insertion, his blood pressure rose to 350 mmHg. Surgery was cancelled and he was admitted to the intensive care unit, where intravenous phentolamine, nitroprusside, and nicardipine were started. His systolic blood pressure would oscillate between 60 mmHg and 350 mmHg at 2-3 minutes' intervals. After 3 days, he was weaned off intravenous medications. His oral medications were uptitrated to high doses of phenoxybenzamine, metoprolol, and nifedipine. Three weeks later, he underwent successful open right adrenalectomy. This case outlines the importance of preoperative preparation of pheochromocytomas and raises the question if phenoxybenzamine is the alpha-blocker of choice for larger tumours with significant hormonal secretion.
Adipsic Diabetes Insipidus-The Challenging Combination of Polyuria and Adipsia: A Case Report and Review of Literature
Authors: Rinkoo Dalan, Hanxin Chin, Jeremy Hoe, Abel Chen, Huiling Tan, Bernhard Otto Boehm, Karen SuiGeok Chua
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: adipsia, diabetes insipidus, hypothalamus and neuroendocrinology, thirst and drinking, water balance
MeSH terms: Case Reports

Adipsic Diabetes Insipidus is a rare hypothalamic disorder characterized by a loss of thirst in response to hypernatraemia accompanied by diabetes insipidus. These occur secondary to a congregation of defects in the homeostatic mechanisms of water balance. A 27-year old Chinese female presented with Adipsic Diabetes Insipidus after cerebral arteriovenous malformation (AVM) surgery. Initial diagnosis and management was extremely challenging. Long term management required a careful interplay between low dose vasopressin analog treatment and fluids. Detailed charts of medication and sodium balance are described in the case presentation. We performed a literature search of similarly reported cases and describe the possible pathogenesis, etiology, clinical presentation, acute and chronic management, and prognosis.
Pernicious Anemia with Autoimmune Hemolytic Anemia: A Case Report and Literature Review
Authors: Sri Lakshmi Hyndavi Yeruva, Raj Pal Manchandani, Patricia Oneal
Journal: Case Rep Hematol (2016)

Pernicious anemia is a common cause of vitamin B12 deficiency. Here, we discuss a case of a young woman who presented with severe anemia along with a history of iron deficiency anemia. After a review of her clinical presentation and laboratory data, we identified an autoimmune hemolytic anemia and a concomitant pernicious anemia. The concurrence of both these hematological diagnoses in a patient is rare.
Idiopathic Hypoparathyroidism With Papillary Thyroid Carcinoma in a Young Male: A Rare Case Report
Authors: Wenjie Chen, Liyun Chen, Tao Wei, Zhihui Li, Jianyong Lei, Jingqiang Zhu
Journal: Front Endocrinol (Lausanne) (2020)
Keywords: central lymph node dissection, idiopathic hypoparathyroidism, papillary thyroid carcinoma, parathyroid protection, radioiodine ablation therapy
MeSH terms: Hypoparathyroidism / complications, Hypoparathyroidism / diagnostic imaging, Thyroid Cancer, Papillary / complications, Thyroid Cancer, Papillary / diagnostic imaging, Thyroid Neoplasms / complications, Thyroid Neoplasms / diagnostic imaging, Case Reports, Research Support, Non-U.S. Gov't, Follow-Up Studies, Humans, Hypoparathyroidism / therapy, Male, Thyroid Cancer, Papillary / therapy, Thyroid Neoplasms / therapy, Young Adult

Background:
Idiopathic hypoparathyroidism (IHP) is a rare disorder that is diagnosed by excluding other possible etiologies. Thyroid surgery causes approximately 14-60% of all cases of hypoparathyroidism; of these, surgery for papillary thyroid carcinoma (PTC) is the most common reason. Here, we report an extremely rare case of IHP combined with PTC.
Case presentation:
A 22-year-old man presented with a history of uncontrollable extremity and facial numbness, spasm and twitch lasting for nine years. He had been misdiagnosed with epilepsy and gained no relief from antiepileptic therapy. The laboratory evaluation revealed reduced parathyroid hormone and serum calcium and elevated inorganic phosphorus. After considering IHP, ultrasound detected a solid hypoechoic and irregularly shaped nodule 13×8×9 mm in size in the upper pole of the right thyroid gland, and fine-needle aspiration biopsy indicated PTC. Then, the patient underwent surgical treatment and radioactive iodine ablation. The long-term treatment strategy consisted of oral levothyroxine for thyroid-stimulating hormone inhibition and oral calcium and vitamin D supplements for hypocalcemia control.
Conclusion:
We report a rare case of IHP combined with PTC in a 22-year-old male. Some experiences and lessons from our treatment procedure merit discussion, and we hope that our report can serve as a reference for the diagnosis and treatment of similar patients in the future.
Pulmonary Alveolar Microlithiasis
Authors: Kevan Mehta, Sharon Dell, Catherine Birken, Suhail Al-Saleh
Journal: Can Respir J (2016)
MeSH terms: Calcinosis / diagnostic imaging, Genetic Diseases, Inborn / diagnostic imaging, Lung Diseases / diagnostic imaging, Radiography, Thoracic, Tomography, X-Ray Computed, Case Reports, Calcinosis / pathology, Child, Preschool, Female, Genetic Diseases, Inborn / pathology, Humans, Lung / pathology, Lung Diseases / pathology, Pulmonary Alveolar Microlithiasis

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive condition that is often asymptomatic despite significant changes in chest imaging. Diagnosis is often made when patients become symptomatic in adulthood. There are still no proven treatments, but earlier diagnosis may allow for evaluation of preventative strategies that could improve outcome. It is an important diagnosis to consider in children who have marked radiographic findings with no or very mild symptoms or physical findings. Diagnosis can be made with imaging alone but may necessitate lung biopsy for definitive diagnosis.
Amoebic toxic megacolon with poly-helminthic coinfection: Case presentation and review of intestinal polyparasitic infections
Authors: S Yusof, Y Zhao, J Quah, C E Ernest Eu, L M Wang
Journal: Int J Surg Case Rep (2020)
Keywords: case report, intestinal parasitic infections, toxic megacolon
MeSH terms: Case Reports

Introduction:
Intestinal parasitic infections are a health burden to developing countries, but can also become more prevalent worldwide, even in developed countries, with the advent of globalization. While most of these infections are benign, some may be associated with acute infections with high morbidity and mortality rates.
Case presentation:
A 36 years old patient presented with toxic megacolon with poly-helminthic infections, likely a result of raw food ingestion. She subsequently required multiple surgeries with a total colectectomy and small bowel resection, and ended up with an end-ileostomy.
Discussion:
Intestinal polyparasitism has been reported in undeveloped countries, but it appears that such a trend can be found in developed countries as well. Clinicians, especially those practicing in countries with large expatriate or immigrant worker populations, should be aware of this trend and adjust treatment protocols accordingly.
Conclusion:
Even in countries whereby intestinal parasitic infections are not common, clinicians should have a heightened awareness of the possibility for such infections to be present, especially in returning travellers, expatriate or immigrant populations.
Cerebral Amyloid Angiopathy-Related Inflammation: Report of a Case with Very Difficult Therapeutic Management
Authors: Francesca Crosta, Berardino Orlandi, Federica De Santis, Gianni Passalacqua, Jacopo C DiFrancesco, Fabrizio Piazza, Alessia Catalucci, Giovambattista Desideri, Carmine Marini
Journal: Case Rep Neurol Med (2015)

Background. Cerebral amyloid angiopathy-related inflammation (CAA-ri) results from autoimmune response to beta-amyloid deposits in cerebral vessels. Its clinical course and complications have seldom been described in literature. Case Report. In a patient presenting with delirium and left hemiparesis the diagnosis of CAA-ri was supported by the finding of elevated anti-amyloid autoantibodies in the cerebrospinal fluid (CSF). Steroid therapy produced significant improvements in clinical and investigational assessments, but after two months, it caused Acute Respiratory Distress Syndrome. After steroid therapy discontinuation the patient presented a rapidly progressive dementia, Guillain-Barré syndrome, new cerebral ischemic lesions, and thrombosis of the right cephalic and subclavian veins that were treated with subcutaneous heparin. After a week the patient died because of brain hemorrhage. Conclusion. This case suggests caution in steroid therapy discontinuation and antithrombotic therapy administration in patients with CAA-ri. The CSF search of anti-amyloid autoantibodies could be helpful to support the diagnosis.
Pancreatic mass leading to left-sided portal hypertension, causing bleeding from isolated gastric varices
Authors: Helga Thrainsdottir, Vigdis Petursdottir, Sigurdur Blöndal, Einar S Björnsson
Journal: Case Rep Gastrointest Med (2014)

Mucinous cystic neoplasms (MCN) are an uncommon form of exocrine neoplasms of the pancreas. Symptoms are most often vague and this makes the diagnosis more difficult. The current case is one of three cases yet reported where the MCN caused left-sided portal hypertension leading to the formation of isolated gastric varices and subsequent bleeding from the varices. In the previously reported cases the main symptom was hematemesis. However in the current case the patient experienced no hematemesis, only isolated incidents of dark coloured diarrhea, but the main symptoms were those of iron-deficiency anemia. We present the case report of a 34-year-old woman who presented with dizziness and lethargy and was found to have 12 cm MCN in the pancreas.
Treatment of complicated henoch-schönlein purpura with mycophenolate mofetil: a retrospective case series report
Authors: A A Nikibakhsh, H Mahmoodzadeh, M Karamyyar, S Hejazi, M Noroozi, A A Macooie, A Gholizadeh, L Gholizadeh
Journal: Int J Rheumatol (2010)
MeSH terms: Case Reports

Background. Henoch-Schönlein purpura (HSP) is the most common childhood vasculitis with an incidence of approximately 10 per 100 000 children. There is some evidence to support steroid therapy in the treatment of severe abdominal pain, severe nephritis, and central nervous system involvement. However, the routine use of corticosteroids is controversial. Frequent relapses, lack of response to steroid, steroid dependency, and steroid side effects may occur in some patients. Mycophenolate mofetil (MMF) gains increasing popularity in the treatment of autoimmune disorders, but hitherto, the available evidence to support the use of MMF in HSP is limited to some case study reports. Case Presentation. We report six children with HSP who failed to respond to systemic steroid therapy, whereas MMF successfully treated the manifestations of the disease. Conclusion. The manifestations of HSP disappeared mainly during the first week of treatment with MMF and all the patients were in a complete remission at the end and after discontinuation of the therapy. In our experience, MMF appeared to be safe and effective for the maintenance of remission in the HSP patients.