Early onset sepsis is one of the leading causes of neonatal death – worldwide as well as in high-resource countries (1). The incidence (2) of early-onset sepsis and the case fatality rate (3) are even higher among preterm infants, in whom a shift towards gram-negative bacteria, predominantly Escherichia coli, occurs (4). For life-threatening diseases, empiric antibiotic therapy regimens must cover the most relevant pathogens and, at the same time, avoid any unnecessary use of reserve antibiotics (5, 6). In most cases of early-onset neonatal sepsis, the pathogens colonizing the neonate or its previous environment, the mother’s womb, are not known when treatment is initiated.
{"title":"Managing Escherichia coli sepsis and the Tarragona strategy","authors":"S. Böttger, R. Zbinden, M. B. Schmid","doi":"10.5167/UZH-196424","DOIUrl":"https://doi.org/10.5167/UZH-196424","url":null,"abstract":"Early onset sepsis is one of the leading causes of neonatal death – worldwide as well as in high-resource countries (1). The incidence (2) of early-onset sepsis and the case fatality rate (3) are even higher among preterm infants, in whom a shift towards gram-negative bacteria, predominantly Escherichia coli, occurs (4). For life-threatening diseases, empiric antibiotic therapy regimens must cover the most relevant pathogens and, at the same time, avoid any unnecessary use of reserve antibiotics (5, 6). In most cases of early-onset neonatal sepsis, the pathogens colonizing the neonate or its previous environment, the mother’s womb, are not known when treatment is initiated.","PeriodicalId":73637,"journal":{"name":"Journal of cardiology case reports","volume":"26 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83475223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Neonatal pertussis: life-threatening event and outbreak prevention in the NICU","authors":"Chiara Sonnessa, M. Hesse, R. Arlettaz","doi":"10.5167/UZH-196425","DOIUrl":"https://doi.org/10.5167/UZH-196425","url":null,"abstract":"","PeriodicalId":73637,"journal":{"name":"Journal of cardiology case reports","volume":"49 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83065686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jesus David Sendoya-Vargas, M. J. Ruiz, Héctor Conrado-Jiménez
Introduction: Traumatic pancreatitis (TP) comprises less than 10% of all abdominal traumas but can reach mortality and morbidity rates of up to 34% and 64%, respectively. The treatment of TP has a conservative approach, followed by minimally invasive procedures and surgery if the evolution is torpid. Case report: A 54-year-old male patient with blunt trauma in right hypochondrium due to a bovine kick developed moderate-severe TP and grade IV pancreatic injury (PI). He underwent laparoscopic surgery twice with adequate clinical evolution. He required antibiotic therapy for 19 days and hospitalization for 29 days, of which 9 were in the ICU. Conclusion: The diagnosis of TP is difficult to achieve due to the retroperitoneal location of the pancreas. The treatment of this condition is usually conservative, preferring clinical management with percutaneous or endoscopic drainage over surgical drainage due to its low morbidity and mortality. The recommended surgical approach to these patients is laparotomy; however, the laparoscopic approach is a therapeutic option to be considered for comprehensive management.
{"title":"Laparoscopy for traumatic pancreatitis. Case report","authors":"Jesus David Sendoya-Vargas, M. J. Ruiz, Héctor Conrado-Jiménez","doi":"10.15446/cr.v6n2.85029","DOIUrl":"https://doi.org/10.15446/cr.v6n2.85029","url":null,"abstract":"Introduction: Traumatic pancreatitis (TP) comprises less than 10% of all abdominal traumas but can reach mortality and morbidity rates of up to 34% and 64%, respectively. The treatment of TP has a conservative approach, followed by minimally invasive procedures and surgery if the evolution is torpid. Case report: A 54-year-old male patient with blunt trauma in right hypochondrium due to a bovine kick developed moderate-severe TP and grade IV pancreatic injury (PI). He underwent laparoscopic surgery twice with adequate clinical evolution. He required antibiotic therapy for 19 days and hospitalization for 29 days, of which 9 were in the ICU. Conclusion: The diagnosis of TP is difficult to achieve due to the retroperitoneal location of the pancreas. The treatment of this condition is usually conservative, preferring clinical management with percutaneous or endoscopic drainage over surgical drainage due to its low morbidity and mortality. The recommended surgical approach to these patients is laparotomy; however, the laparoscopic approach is a therapeutic option to be considered for comprehensive management.","PeriodicalId":73637,"journal":{"name":"Journal of cardiology case reports","volume":"41 1","pages":"165-173"},"PeriodicalIF":0.0,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76938037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Laura Estefanía Arenas-Vargas, Ruben Darío Arenas-Diaz, Enrique Hernandez-Rojas, Fabián Riaño-Montañez
Introduction : Seizures related to metabolic disorders are common phenomena in many clinical contexts. However, clinical manifestations and neuroimaging findings in the context of a hyperglycemic crisis are less frequent phenomena with unclear pathophysiology. Case report : A 68-year-old man presented focal seizures and right homonymous hemianopsia after a non-ketotic hyperglycemic crisis. Brain MRI showed cortical diffusion restriction and subcortical T2 / FLAIR hypointensity in left occipital, temporal (mesial) and parietal lobes. Spectroscopy was performed showing a nonspecific pattern, cerebrospinal fluid was normal and there was improvement with glycemic control. MRI findings were considered secondary to the hyperglycemic crisis. Conclusion : Non-ketotic hyperglycemic states can manifest with several rare neurological alterations and recognizing them early is of vital importance given their potential reversibility. As in other metabolic disorders, epileptic seizures in this context can have focal-type characteristics. Although pathophysiological mechanisms are not clearly elucidated yet, multiple neuroimaging techniques promise to establish patterns that allow accurate and timely diagnosis.
{"title":"Brain MRI findings in non-ketotic hyperglycemic crisis: Case report","authors":"Laura Estefanía Arenas-Vargas, Ruben Darío Arenas-Diaz, Enrique Hernandez-Rojas, Fabián Riaño-Montañez","doi":"10.15446/cr.v6n2.83866","DOIUrl":"https://doi.org/10.15446/cr.v6n2.83866","url":null,"abstract":"Introduction : Seizures related to metabolic disorders are common phenomena in many clinical contexts. However, clinical manifestations and neuroimaging findings in the context of a hyperglycemic crisis are less frequent phenomena with unclear pathophysiology. Case report : A 68-year-old man presented focal seizures and right homonymous hemianopsia after a non-ketotic hyperglycemic crisis. Brain MRI showed cortical diffusion restriction and subcortical T2 / FLAIR hypointensity in left occipital, temporal (mesial) and parietal lobes. Spectroscopy was performed showing a nonspecific pattern, cerebrospinal fluid was normal and there was improvement with glycemic control. MRI findings were considered secondary to the hyperglycemic crisis. Conclusion : Non-ketotic hyperglycemic states can manifest with several rare neurological alterations and recognizing them early is of vital importance given their potential reversibility. As in other metabolic disorders, epileptic seizures in this context can have focal-type characteristics. Although pathophysiological mechanisms are not clearly elucidated yet, multiple neuroimaging techniques promise to establish patterns that allow accurate and timely diagnosis.","PeriodicalId":73637,"journal":{"name":"Journal of cardiology case reports","volume":"25 1","pages":"146-155"},"PeriodicalIF":0.0,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81224839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Martha Isabel González-Duque, Julián Daniel Hernández-Martínez, M. Fontanilla, S. Muñoz-Medina
Introduction : Chronic venous insufficiency affects about 5% of the global adult population. Venous leg ulcers are one of the most frequent complications of this pathology, with a global prevalence of 2%. This disease affects both the quality of life of patients and, due to the high cost of the treatment, the health system. Compressive therapy and moist wound healing have been the gold standard treatment. However, when complications occur, they may not be effective. Case report : This is the case of a 66-year-old female patient with venous ulcers on her lower limbs and symptoms of fever and local pain that did not respond to conventional therapies. The patient was treated with a new dermal substitute made of an acellular type-I collagen membrane, which promotes the closure of the ulcer by stimulating the replacement of injured tissue with tissue similar to the healthy one. The condition of the patient improved at 16 weeks, and after 8 months of treatment there was no recurrence of the lesions. Conclusions : Acellular type-I collagen membrane developed by the Tissue Engineering Working Group of the Department of Pharmacy of the Universidad Nacional de Colombia is effective in treating venous ulcers of the lower limbs. Its low cost facilitates the access of the whole population to therapies based on its application.
{"title":"Treatment with type-I collagen scaffolds in patients with venous ulcers. Case report","authors":"Martha Isabel González-Duque, Julián Daniel Hernández-Martínez, M. Fontanilla, S. Muñoz-Medina","doi":"10.15446/cr.v6n2.83815","DOIUrl":"https://doi.org/10.15446/cr.v6n2.83815","url":null,"abstract":"Introduction : Chronic venous insufficiency affects about 5% of the global adult population. Venous leg ulcers are one of the most frequent complications of this pathology, with a global prevalence of 2%. This disease affects both the quality of life of patients and, due to the high cost of the treatment, the health system. Compressive therapy and moist wound healing have been the gold standard treatment. However, when complications occur, they may not be effective. Case report : This is the case of a 66-year-old female patient with venous ulcers on her lower limbs and symptoms of fever and local pain that did not respond to conventional therapies. The patient was treated with a new dermal substitute made of an acellular type-I collagen membrane, which promotes the closure of the ulcer by stimulating the replacement of injured tissue with tissue similar to the healthy one. The condition of the patient improved at 16 weeks, and after 8 months of treatment there was no recurrence of the lesions. Conclusions : Acellular type-I collagen membrane developed by the Tissue Engineering Working Group of the Department of Pharmacy of the Universidad Nacional de Colombia is effective in treating venous ulcers of the lower limbs. Its low cost facilitates the access of the whole population to therapies based on its application.","PeriodicalId":73637,"journal":{"name":"Journal of cardiology case reports","volume":"21 1","pages":"128-136"},"PeriodicalIF":0.0,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76816847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Paola Andrea Romero-Campiño, Liliana Sandoval-Tristancho, M. C. Jaramillo, Anna Claici, L. P. Montaña-Jiménez
Introduction: Arthrogryposis multiplex congenita is a disorder characterized by non-progressive joint contractures. It has an estimated prevalence of 1 in every 3 000-5 000 live births, with the same male-to-female ratio.Case presentation: This is the case of a male newborn with adequate prenatal care checkup appointments, who presented with a congenital deformity of the lower limbs. On physical examination, he had hyperextension of the knees (passive flexion of 20° in the left leg and 30° in the right leg), and painful active movement. On admission, peripheral pulses had good intensity, and adequate distal perfusion was found. Barlow and Ortolani maneuvers were negative, and no midline lesions were observed in the spine. The patient was diagnosed with arthrogryposis multiplex congenita and received multidisciplinary treatment to avoid early morbidity and mortality.Conclusion: To attain satisfactory clinical development in patients with arthrogryposis, it is essential to have a high level of antenatal suspicion, as well as appropriate prenatal checkups. All this allows for proper management, minimizing diagnostic errors, avoiding unnecessary procedures, and performing effective and timely treatment with outstanding results.
{"title":"Congenital hyperextension deformity of the knees due to arthrogryposis multiplex congenita? Case report","authors":"Paola Andrea Romero-Campiño, Liliana Sandoval-Tristancho, M. C. Jaramillo, Anna Claici, L. P. Montaña-Jiménez","doi":"10.15446/cr.v6n2.83824","DOIUrl":"https://doi.org/10.15446/cr.v6n2.83824","url":null,"abstract":"Introduction: Arthrogryposis multiplex congenita is a disorder characterized by non-progressive joint contractures. It has an estimated prevalence of 1 in every 3 000-5 000 live births, with the same male-to-female ratio.Case presentation: This is the case of a male newborn with adequate prenatal care checkup appointments, who presented with a congenital deformity of the lower limbs. On physical examination, he had hyperextension of the knees (passive flexion of 20° in the left leg and 30° in the right leg), and painful active movement. On admission, peripheral pulses had good intensity, and adequate distal perfusion was found. Barlow and Ortolani maneuvers were negative, and no midline lesions were observed in the spine. The patient was diagnosed with arthrogryposis multiplex congenita and received multidisciplinary treatment to avoid early morbidity and mortality.Conclusion: To attain satisfactory clinical development in patients with arthrogryposis, it is essential to have a high level of antenatal suspicion, as well as appropriate prenatal checkups. All this allows for proper management, minimizing diagnostic errors, avoiding unnecessary procedures, and performing effective and timely treatment with outstanding results.","PeriodicalId":73637,"journal":{"name":"Journal of cardiology case reports","volume":"356 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75147266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Introduction: Myositis is a rare complication of extra-articular anabolic steroid injections, while osteitis has not been reported as an adverse effect from this cause. This case report provides information about imaging findings of these two entities.Case presentation: A 37-year-old male, bodybuilder, presented pain and edema in the left gluteal region, associated with functional limitation, 5 days after receiving an intramuscular anabolic steroid injection (stanozolol). The man underwent an ultrasound scan and magnetic resonance imaging of the pelvis with contrast, which allowed making the diagnosis of myositis of the left gluteus maximus and osteitis of the iliac bone. The patient was treated with piperacillin-tazobactam and vancomycin for 10 days, without complications. No surgical management was required.Conclusion: Myositis is a rare complication of anabolic steroid injections and the pathophysiological mechanism of this substance is unknown. Osteitis, on the other hand, is an even rarer complication and, to the best of our knowledge, this isthe first known case associated with this cause. Given the findings, the myositis reported herein has an infectious nature; however, further studies are required to demonstrate the actual causal association.
{"title":"Anabolic steroid-induced myositis and osteitis. Case report through a radiologic approach","authors":"Andrés Felipe Donado-Moré, E. Calvo-Páramo","doi":"10.15446/cr.v6n2.84717","DOIUrl":"https://doi.org/10.15446/cr.v6n2.84717","url":null,"abstract":"Introduction: Myositis is a rare complication of extra-articular anabolic steroid injections, while osteitis has not been reported as an adverse effect from this cause. This case report provides information about imaging findings of these two entities.Case presentation: A 37-year-old male, bodybuilder, presented pain and edema in the left gluteal region, associated with functional limitation, 5 days after receiving an intramuscular anabolic steroid injection (stanozolol). The man underwent an ultrasound scan and magnetic resonance imaging of the pelvis with contrast, which allowed making the diagnosis of myositis of the left gluteus maximus and osteitis of the iliac bone. The patient was treated with piperacillin-tazobactam and vancomycin for 10 days, without complications. No surgical management was required.Conclusion: Myositis is a rare complication of anabolic steroid injections and the pathophysiological mechanism of this substance is unknown. Osteitis, on the other hand, is an even rarer complication and, to the best of our knowledge, this isthe first known case associated with this cause. Given the findings, the myositis reported herein has an infectious nature; however, further studies are required to demonstrate the actual causal association.","PeriodicalId":73637,"journal":{"name":"Journal of cardiology case reports","volume":"123 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75808354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Andrés Eduardo Prieto-Torres, Wilson Suárez-Molina, Jaime Iván Pantoja-Agreda
Introduction: Adult Onset Still´s Disease (AOSD) is a rare systemic inflammatory disease of unclear etiology, with low incidence and prevalence among the general population. AOSD is a common cause of fever of unknown origin (FUO) in up to 20% of cases. Due to the scarce knowledge about this disease and its diagnosis, it is usually unrecognized in the differential diagnoses, worsening the prognosis and increasing complications in some patients. Case presentation: This is the case of a 32-year-old female patient with prolonged febrile illness, who did not respond to the antimicrobial treatments previously established. She was diagnosed with AOSD according to the Yamaguchi criteria after an extensive exclusion process. She was treated with first-line treatment with corticosteroids, achieving satisfactory results. Conclusions: The diagnosis of AOSD is an exhaustive process. Regardless of the availability of cutting-edge diagnostic tools, the medical history of the patient and an adequate physical examination are the most important aspects to consider.
成人发病Still ' s Disease (AOSD)是一种罕见的全身性炎症性疾病，病因不明，在普通人群中发病率和患病率均较低。AOSD是不明原因发热(FUO)的常见原因，高达20%的病例。由于对本病及其诊断知识的缺乏，在鉴别诊断中往往未被识别，导致部分患者预后恶化，并发症增加。病例介绍:这是一名32岁女性患者，长期发热性疾病，对先前确定的抗菌治疗无反应。经过广泛的排除过程后，根据山口标准诊断为AOSD。她接受了皮质类固醇的一线治疗，取得了满意的效果。结论:AOSD的诊断是一个详尽的过程。不管尖端诊断工具的可用性如何，患者的病史和充分的体格检查是需要考虑的最重要的方面。
{"title":"Adult Onset Still´s Disease (AOSD): A rare condition with a classic presentation. Case Report","authors":"Andrés Eduardo Prieto-Torres, Wilson Suárez-Molina, Jaime Iván Pantoja-Agreda","doi":"10.15446/cr.v6n2.83482","DOIUrl":"https://doi.org/10.15446/cr.v6n2.83482","url":null,"abstract":"Introduction: Adult Onset Still´s Disease (AOSD) is a rare systemic inflammatory disease of unclear etiology, with low incidence and prevalence among the general population. AOSD is a common cause of fever of unknown origin (FUO) in up to 20% of cases. Due to the scarce knowledge about this disease and its diagnosis, it is usually unrecognized in the differential diagnoses, worsening the prognosis and increasing complications in some patients. Case presentation: This is the case of a 32-year-old female patient with prolonged febrile illness, who did not respond to the antimicrobial treatments previously established. She was diagnosed with AOSD according to the Yamaguchi criteria after an extensive exclusion process. She was treated with first-line treatment with corticosteroids, achieving satisfactory results. Conclusions: The diagnosis of AOSD is an exhaustive process. Regardless of the availability of cutting-edge diagnostic tools, the medical history of the patient and an adequate physical examination are the most important aspects to consider.","PeriodicalId":73637,"journal":{"name":"Journal of cardiology case reports","volume":"1992 1","pages":"100-108"},"PeriodicalIF":0.0,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89008155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. González-Clavijo, Juan David Muñoz-Loaiza, Jennifer Daniela Guzmán-Rojas, Johiner Jahir Vanegas-Antolinez, Laura Natalia Bermúdez-Silva, Luis Felipe Fierro-Maya
Introduction: Pheochromocytoma is a generally benign neoplasm derived from chromaffin cells of the adrenal medulla. It is characterized by the production of large amounts of catecholamines and also by the capacity to secrete bioactive peptides such as cytokines, mainly interleukin-1 (IL-1), interleukin-6 (IL-6) and TNF alpha.Case presentation: 24-year-old man, who consulted for fever, myalgia, and choluria. His laboratory tests were compatible with a systemic inflammatory response without infectious or autoimmune causes. However, a fluorodeoxyglucose positron emission tomography (FDGPET) revealed a left adrenal mass, without extra-adrenal lesions. On admission, increased levels of differentiated urine methanephrines, elevated baseline cortisol, non-suppressed adrenocorticotrophic hormone (ACTH), and positive low dose dexamethasone suppression test for cortisol were found. With suspicion of catecholamine and ACTH-producing pheochromocytoma, a tumor resection was performed, which conspicuously resolved all alterations of the inflammatory response. The histologic findings confirmed a pheochromocytoma, but the immunostaining for ACTH was negative. A literature review and the comparison of the findings with other reported cases allowed inferring that this was a case of interleukin-producing pheochromocytoma.Conclusion: Pheochromocytoma may be a cause of febrile syndrome, with IL-6 being the main mediator, which explains the manifestationsof systemic inflammation and ACTH-mediated hypercortisolism.
{"title":"Pheochromocytoma presenting as fever of unknown origin, a case report","authors":"A. González-Clavijo, Juan David Muñoz-Loaiza, Jennifer Daniela Guzmán-Rojas, Johiner Jahir Vanegas-Antolinez, Laura Natalia Bermúdez-Silva, Luis Felipe Fierro-Maya","doi":"10.15446/cr.v6n2.84240","DOIUrl":"https://doi.org/10.15446/cr.v6n2.84240","url":null,"abstract":"Introduction: Pheochromocytoma is a generally benign neoplasm derived from chromaffin cells of the adrenal medulla. It is characterized by the production of large amounts of catecholamines and also by the capacity to secrete bioactive peptides such as cytokines, mainly interleukin-1 (IL-1), interleukin-6 (IL-6) and TNF alpha.Case presentation: 24-year-old man, who consulted for fever, myalgia, and choluria. His laboratory tests were compatible with a systemic inflammatory response without infectious or autoimmune causes. However, a fluorodeoxyglucose positron emission tomography (FDGPET) revealed a left adrenal mass, without extra-adrenal lesions. On admission, increased levels of differentiated urine methanephrines, elevated baseline cortisol, non-suppressed adrenocorticotrophic hormone (ACTH), and positive low dose dexamethasone suppression test for cortisol were found. With suspicion of catecholamine and ACTH-producing pheochromocytoma, a tumor resection was performed, which conspicuously resolved all alterations of the inflammatory response. The histologic findings confirmed a pheochromocytoma, but the immunostaining for ACTH was negative. A literature review and the comparison of the findings with other reported cases allowed inferring that this was a case of interleukin-producing pheochromocytoma.Conclusion: Pheochromocytoma may be a cause of febrile syndrome, with IL-6 being the main mediator, which explains the manifestationsof systemic inflammation and ACTH-mediated hypercortisolism.","PeriodicalId":73637,"journal":{"name":"Journal of cardiology case reports","volume":"54 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87042251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Introduction: Ataxia-telangiectasia (AT) is a neurodegenerative syndrome with low incidence and prevalence worldwide, which is caused by a mutation of the ATM gene. It is an autosomal recessive disorder that is associated with defective cell regeneration and DNA repair mechanisms. It is characterized by progressive cerebellar ataxia, abnormal eye movements, oculocutaneous telangiectasias and immunodeficiency. Early diagnosis is critical to initiate a timely interdisciplinary treatment, improve acute symptoms, and control the multiple comorbidities of the disease. The following is the case of a patient who presented with the aforementioned characteristics and had an adequate response to the established medical treatment.Case presentation: A 7-year-old female patient from Bogotá, who presented clinical signs of global neurodevelopmental delay, cerebelar ataxia, frequent respiratory infections and ocular telangiectasias. Symptoms were associated with elevation of alpha fetoprotein and immunodeficiency, which allowed for a diagnosis of AT and the initiation of a timely interdisciplinary treatment.Conclusion: AT is a chromosomal instability syndrome with characteristic signs and symptoms. It is essential to know the etiopathogenesis, clinical manifestations, diagnostic criteria, and therapeutic options, emphasizing that early detection and clinical suspicion could favor the proper management of the comorbidities and improve the progressive course of the disease.
{"title":"Ataxia telangiectasia: A diagnostic challenge. Case report","authors":"N. Martínez-Córdoba, E. Espinosa-García","doi":"10.15446/cr.v6n2.83219","DOIUrl":"https://doi.org/10.15446/cr.v6n2.83219","url":null,"abstract":"Introduction: Ataxia-telangiectasia (AT) is a neurodegenerative syndrome with low incidence and prevalence worldwide, which is caused by a mutation of the ATM gene. It is an autosomal recessive disorder that is associated with defective cell regeneration and DNA repair mechanisms. It is characterized by progressive cerebellar ataxia, abnormal eye movements, oculocutaneous telangiectasias and immunodeficiency. Early diagnosis is critical to initiate a timely interdisciplinary treatment, improve acute symptoms, and control the multiple comorbidities of the disease. The following is the case of a patient who presented with the aforementioned characteristics and had an adequate response to the established medical treatment.Case presentation: A 7-year-old female patient from Bogotá, who presented clinical signs of global neurodevelopmental delay, cerebelar ataxia, frequent respiratory infections and ocular telangiectasias. Symptoms were associated with elevation of alpha fetoprotein and immunodeficiency, which allowed for a diagnosis of AT and the initiation of a timely interdisciplinary treatment.Conclusion: AT is a chromosomal instability syndrome with characteristic signs and symptoms. It is essential to know the etiopathogenesis, clinical manifestations, diagnostic criteria, and therapeutic options, emphasizing that early detection and clinical suspicion could favor the proper management of the comorbidities and improve the progressive course of the disease.","PeriodicalId":73637,"journal":{"name":"Journal of cardiology case reports","volume":"62 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83020232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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