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Manejo de la mola hidatiforme. Reporte de un caso 棘状翻车鱼的管理。报告个案
Pub Date : 2023-01-25 DOI: 10.15446/cr.v8n2.93735
María Cuaresma-González, Laura Barrero-Real, E. García-García, Lucía Pérez-Gallego, Julio Alberto Gobernado-Tejedor, Marta Ibáñez-Nieto
ResumenIntroducción. La mola hidatiforme es un tipo de enfermedad trofoblástica gestacional que se presenta como resultado de la fertilización anormal de un ovocito y que ocasiona síntomas inespecíficos como amenorrea, metrorragia y aumento del tamaño del útero. Aunque infrecuentes, sus síntomas más característicos incluyen hiperémesis, preeclampsia de inicio temprano, anemia y distrés respiratorio.Presentación del caso. Mujer marroquí de 47 años que consultó al servicio de urgencias del Hospital Clínico Universitario de Valladolid debido a que había presentado tos y vómitos por un mes. La paciente refirió haber sufrido epigastralgia y amenorrea por dos meses, así como escaso sangrado vaginal en los últimos dos días. Teniendo en cuenta que la paciente dio positivo en una prueba de embarazo, que en la ecografía transvaginal se observó una masa intrauterina heterogénea de 124x120mm, que no se reportaron hallazgos anormales en la ecografía Doppler y que sus niveles séricos de βhCG alcanzaron un valor de 772.110 mUI/mL, se sospechó un diagnóstico de mola hidatiforme. Una vez informada sobre las posibles alternativas terapéuticas, la paciente decidió someterse a una histerectomía total, pues refirió que ya había cumplido su deseo de ser madre. Luego de realizar procedimiento, la condición clínica de la paciente mejoró; además, el informe de patología de la masa permitió confirmar el diagnóstico de mola hidatiforme parcial.Conclusiones. El diagnóstico temprano de la mola hidatiforme es de gran importancia para ofrecer un tratamiento adecuado y, de esta forma, mejorar el pronóstico de estas pacientes. Por tanto, a pesar de su baja incidencia y sus manifestaciones clínicas inespecíficas, se debe considerar como diagnóstico diferencial de las metrorragias del primer trimestre.
ResumenIntroducción。葡萄胎状mola是一种妊娠滋养细胞疾病,由卵母细胞异常受精引起,导致闭经、大出血和子宫增大等非特异性症状。虽然不常见,但最典型的症状包括呕吐、早期子痫前期、贫血和呼吸窘缓。案件陈述。一名47岁的摩洛哥妇女,因咳嗽和呕吐一个月到巴利亚多利德大学临床医院急诊室就诊。患者报告了两个月的上胃痛和闭经,最后两天阴道出血很少。考虑到患者在妊娠化验呈阳性反应,Doppler transvaginal 124x120mm大量异构宫内,指出,报告没有发现异常的多普勒和其β水平nesteroulis达成价值772110 mUI / mL,怀疑诊断葡萄胎。在被告知可能的治疗方案后,患者决定进行全子宫切除术,因为她说她已经实现了成为母亲的愿望。手术后,患者的临床状况有所改善;此外,肿块的病理报告证实了部分葡萄胎的诊断。早期诊断葡萄状痣对于提供适当的治疗和改善这些患者的预后是非常重要的。因此,尽管其发病率低且临床表现非特异性,但应将其视为妊娠前三个月大的鉴别诊断。
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引用次数: 0
Lupus pernio vs. lupic perniosis: A case report 狼疮与狼疮性腐殖症:1例报告
Pub Date : 2023-01-15 DOI: 10.15446/cr.v8n2.92970
Doris Juliana Parra-Sepúlveda, Laura Catalina Urueña-Betancourt, J. F. Porras-Villamil, Nadia Katherine Ríos-Camargo
AbstractIntroduction: Systemic lupus erythematosus (SLE) is an autoimmune disease that is difficult to diagnose due to the wide array of signs and symptoms it displays that may be associated to multiple clinical conditions,  including perniosis (a rare inflammatory condition), lupus pernio (a manifestation of sarcoidosis), and lupus perniosis (a form of SLE), which can be easily mistaken.Case description: A 29-year-old Colombian mestizo woman with no family history of autoimmune, inflammatory or cutaneous diseases was diagnosed with SLE after ruling out several differential diagnoses. Although the patient presented with features of lupus pernioticus (lupus perniosis), it was established that she had lupus pernio, a type of sarcoidosis. The patient was given the indicated treatment, which led to an improvement in her quality of life.Conclusion: Based on the epidemiology, clinical history and histopathologic findings, it was possible to establish that the patient presented with lupus perniosis and not lupus pernio. In that regard, considering that these three conditions (perniosis, lupus pernio and lupic perniosis) can be easily confused, the present case highlights the importance of a thorough clinical evaluation and precise use of diagnostic terms, because these are three different conditions despite their similar names.
摘要简介:系统性红斑狼疮(SLE)是一种难以诊断的自身免疫性疾病,由于其表现出的体征和症状范围广泛,可能与多种临床情况有关,包括狼疮(一种罕见的炎症性疾病)、狼疮(结节病的一种表现)和狼疮(SLE的一种形式),很容易被误诊。病例描述:一名29岁的哥伦比亚混血女性,没有自身免疫性、炎症或皮肤病家族史,在排除了几种鉴别诊断后被诊断为SLE。虽然患者表现出狼疮(狼疮)的特征,但确定她患有狼疮,一种结节病。病人接受了指定的治疗,生活质量得到了改善。结论:根据流行病学、临床病史和组织病理学检查结果,可以确定患者表现为狼疮而非狼疮。在这方面,考虑到这三种情况(羊粪病、羊粪狼疮和狼疮性羊粪病)很容易混淆,本病例强调了彻底的临床评估和准确使用诊断术语的重要性,因为这是三种不同的情况,尽管它们的名称相似。
{"title":"Lupus pernio vs. lupic perniosis: A case report","authors":"Doris Juliana Parra-Sepúlveda, Laura Catalina Urueña-Betancourt, J. F. Porras-Villamil, Nadia Katherine Ríos-Camargo","doi":"10.15446/cr.v8n2.92970","DOIUrl":"https://doi.org/10.15446/cr.v8n2.92970","url":null,"abstract":"Abstract\u0000Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disease that is difficult to diagnose due to the wide array of signs and symptoms it displays that may be associated to multiple clinical conditions,  including perniosis (a rare inflammatory condition), lupus pernio (a manifestation of sarcoidosis), and lupus perniosis (a form of SLE), which can be easily mistaken.\u0000Case description: A 29-year-old Colombian mestizo woman with no family history of autoimmune, inflammatory or cutaneous diseases was diagnosed with SLE after ruling out several differential diagnoses. Although the patient presented with features of lupus pernioticus (lupus perniosis), it was established that she had lupus pernio, a type of sarcoidosis. The patient was given the indicated treatment, which led to an improvement in her quality of life.\u0000Conclusion: Based on the epidemiology, clinical history and histopathologic findings, it was possible to establish that the patient presented with lupus perniosis and not lupus pernio. In that regard, considering that these three conditions (perniosis, lupus pernio and lupic perniosis) can be easily confused, the present case highlights the importance of a thorough clinical evaluation and precise use of diagnostic terms, because these are three different conditions despite their similar names.","PeriodicalId":73637,"journal":{"name":"Journal of cardiology case reports","volume":"30 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87125979","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}
引用次数: 0
Buerger’s disease with cerebral involvement in a middle-aged woman with diabetes mellitus. A case report 伴有糖尿病的中年妇女患伯格氏病伴大脑受累。病例报告
Pub Date : 2022-12-14 DOI: 10.15446/cr.v8n2.95271
J. Frías-Ordoñez, M. A. Pérez-Hernández, José Ignacio Angarita-Céspedes, Sergio Alexander Mora-Alfonso, Michel Hernández-Restrepo, Humberto Carlo Parra-Bonilla
Introduction: Buerger’s disease (BD) generally affects men, young people, and smokers, but it can also affect women. Its incidence is rare in Latin America.Case report: A 40-year-old Colombian woman, active smoker and user of psychoactive substances, attended the emergency department of a tertiary care center due to symptoms of 3 days consisting of retraction of the corner of the mouth, drooling, and involuntary tongue movements. The patient, who had a history of uncontrolled diabetes and recent acute ischemia of the right upper limb due to acute thrombosis, required surgical management and subsequent use of oral anticoagulation. She later developed necrotic changes in the distal phalanges of the right hand that required ablative therapy. Since age, sex and limb involvement were not typical for BD, collagenosis, vasculitis or thrombophilia were ruled out, but after excluding these disorders, BD with atypical features was considered. The patient was discharged with oral anticoagulation, aspirin, combined analgesia, physiotherapy, and recommendation for smoking cessation.Conclusions: Age, sex, smoking and comorbidities such as diabetes are risk factors for BD. Imaging and histopathology are the gold standard for the definitive diagnosis of this entity. Multidisciplinary management, lifestyle changes, smoking cessation, pain control, good wound healing and social support are key aspects for better clinical outcomes in patients with BD.
简介:伯格氏病(BD)通常影响男性、年轻人和吸烟者,但也可能影响女性。其发病率在拉丁美洲很少见。病例报告:一名40岁的哥伦比亚妇女,活跃的吸烟者和精神活性物质使用者,因3天的症状,包括嘴角缩回、流口水和舌头不自主运动,到一家三级保健中心的急诊科就诊。患者既往有糖尿病未控制病史,近期右上肢急性血栓形成急性缺血,需要手术治疗,随后使用口服抗凝药物。她后来在右手远端指骨出现坏死改变,需要消融治疗。由于年龄、性别和肢体受累不典型,排除了胶原沉积、血管炎或血栓形成,但在排除这些障碍后,考虑了具有非典型特征的BD。患者出院时给予口服抗凝、阿司匹林、联合镇痛、物理治疗,并建议戒烟。结论:年龄、性别、吸烟和合并症(如糖尿病)是双相障碍的危险因素,影像学和组织病理学是明确诊断双相障碍的金标准。多学科管理、生活方式改变、戒烟、疼痛控制、良好的伤口愈合和社会支持是双相障碍患者获得更好临床结果的关键方面。
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引用次数: 0
Pelvic retroperitoneal echinococcal cyst. A case report 盆腔腹膜后棘球蚴囊肿。病例报告
Pub Date : 2022-12-13 DOI: 10.15446/cr.v8n2.93080
Edmundo Ziede-Rojas, Eduardo Ramírez-González, Jaime Jans-Baez
Introduction: Echinococcosis or hydatidosis is a parasitic zoonosis endemic in Chile that poses an important public health concern. It mainly affects the liver and lungs; however, it may involve diverse areas, with the isolated pelvic location being exceptional and difficult to manage.Case presentation. A 41-year-old female consulted the emergency department of a hospital in Chile due to lumbosacral pain and was diagnosed with hydatidosis. The patient received surgical treatment and medication, but the disease recurred twice: the first time, a year after the first intervention, and the second time, two months after the second.  Therefore, she required a multidisciplinary approach that included long-term antibiotic therapy and a radical approach to the lesion, achieving an adequate control of the disease.Conclusion: Pelvic echinococcosis is difficult to diagnose due to its low frequency. This disease should be considered in the event of any cystic lesion in endemic areas. A multidisciplinary management reduces possible complications and recurrence.
简介:棘球蚴病或包虫病是智利的一种地方性寄生虫人畜共患病,是一个重要的公共卫生问题。它主要影响肝和肺;然而,它可能涉及不同的区域,孤立的骨盆位置是特殊的,难以处理。案例演示。一名41岁女性因腰骶疼痛到智利一家医院急诊科就诊,诊断为包虫病。患者接受了手术治疗和药物治疗,但疾病复发两次:第一次是在第一次干预后一年,第二次是在第二次干预后两个月。因此,她需要多学科治疗,包括长期抗生素治疗和病灶根治性治疗,以达到对疾病的充分控制。结论:盆腔包虫病发病率低,诊断困难。在流行地区出现囊性病变时应考虑此病。多学科治疗减少了可能的并发症和复发。
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引用次数: 0
Perinatal prognosis in euploid fetus with cystic hygroma. Report of two clinical cases 整倍体胎儿囊性水瘤的围生期预后。报告2例临床病例
Pub Date : 2022-12-01 DOI: 10.15446/cr.v8n2.92779
R. Tarazona-Bueno, R. L. Aragón-Mendoza, Deisy Yurany Daza Leguizamón, Marcela Altman-Restrepo
Introduction: Cystic hygroma (CH) is a rare congenital anomaly of the lymphatic system. It is characterized by cystic lesions predominantly in the fetal neck and its prenatal diagnosis has been associated with increased perinatal mortality, aneuploidy, and congenital malformations.Case presentation: Two cases of cervical cystic hygroma diagnosed during the second trimester of gestation are presented, one of them associated with bilateral clubfoot. Both fetuses underwent karyotyping by amniocentesis, which established that both were euploid (46 XY and 46 XX), as well as fetal nuclear magnetic resonance imaging that showed no associated major malformations. In the interdisciplinary follow-up performed 1 year after birth, no findings consistent with genetic syndromes or neurodevelopmental alterations were observed in either of the 2 cases.Conclusions: CH is a marker of poor fetal prognosis; however, euploid fetuses with this condition have a better prognosis if their lesion resolves, do not progress to hydrops fetalis, and do not present other associated malformations. Euploid fetuses with CH require specific genetic studies for RASopathies, such as Noonan syndrome, which were not available in the clinical approach of the 2 cases presented; however, typical postnatal characteristics of the disease were not evident in the clinical genetic evaluation.
简介:囊性水瘤(CH)是一种罕见的先天性淋巴系统异常。它的特点是囊性病变主要发生在胎儿颈部,其产前诊断与围产期死亡率增加、非整倍体和先天性畸形有关。病例介绍:两个病例宫颈囊性水瘤诊断在妊娠中期提出,其中一个与双侧畸形足相关。两个胎儿都通过羊膜穿刺术进行了核型分析,确定了两个胎儿都是整倍体(46 XY和46 XX),胎儿核磁共振成像显示没有相关的主要畸形。在出生后1年的跨学科随访中,2例均未发现遗传综合征或神经发育改变。结论:CH是胎儿预后不良的标志;然而,患有这种疾病的整倍体胎儿如果病变消退,不发展为积水胎儿,并且没有出现其他相关畸形,则预后较好。患有CH的整倍体胎儿需要对RASopathies(如Noonan综合征)进行特定的遗传研究,这在2例病例的临床方法中是不可用的;然而,该疾病的典型产后特征在临床遗传评估中并不明显。
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引用次数: 0
Recurrent Takotsubo syndrome: case report and literature review 复发性Takotsubo综合征1例报告并文献复习
Pub Date : 2022-11-22 DOI: 10.15446/cr.v8n2.92955
Sergio Alexander Velasco-Malagón, Guillermo Mora-Pabón
AbstractIntroduction: Takotsubo syndrome is a cardiomyopathy that can lead to severe myocardial involvement. It is characterized by the presence of signs and symptoms suggestive of ventricular dysfunction associated with an adrenergic discharge during a stressful event. This case report presents a literature review, as well as a comparison with other similar cases.Case presentation. A 56-year-old female with a previous episode of Takotsubo was admitted to the emergency department due to symptoms of acute coronary syndrome and a history of Takotsubo syndrome. Her electrocardiogram showed T-wave inversion in leads V1-V4 and a raise in troponins. Percutaneous coronary angiography revealed no coronary lesions, and an echocardiogram revealed segmental alterations compatible with Takotsubo syndrome, requiring medical therapy with beta-blockers and angiotensin-converting enzyme (ACE) inhibitors, with subsequent improvement in ventricular function.Conclusions. Recurrence in Takotsubo cardiomyopathy is a rare complication that should be suspected. The risk factors associated with recurrence are not known. Although therapy with ACE inhibitors and beta-blockers seems to have an impact on the recovery of ventricular function in patients with this condition, further studies are necessary to establish the best pharmacological treatment.
摘要简介:Takotsubo综合征是一种可导致严重心肌受累的心肌病。其特征是存在提示心室功能障碍的体征和症状,与应激事件中肾上腺素能释放有关。本病例报告提出了文献综述,以及与其他类似病例的比较。案例演示。一名56岁女性,既往有Takotsubo发作,因急性冠状动脉综合征症状和Takotsubo综合征病史而入住急诊科。她的心电图显示V1-V4导联t波倒置,肌钙蛋白升高。经皮冠状动脉造影未发现冠状动脉病变,超声心动图显示与Takotsubo综合征相符的节段性改变,需要药物治疗β受体阻滞剂和血管紧张素转换酶(ACE)抑制剂,随后心室功能改善。Takotsubo心肌病复发是一种罕见的并发症,应予以怀疑。与复发相关的危险因素尚不清楚。尽管ACE抑制剂和β受体阻滞剂治疗似乎对脑室功能的恢复有影响,但需要进一步的研究来确定最佳的药物治疗方法。
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引用次数: 0
Giant Right Atrial Myxoma with Right to Left Shunt Across Atrial Septum 巨大右心房黏液瘤伴右至左房间隔分流
Pub Date : 2022-10-25 DOI: 10.47496/sl.ccr.2022.01.03
Zuhaib Ahmed, Lubna Baqai, Ubaidullah Popal, A. Memon, B. Hanif
Middle-aged male known case of hypothyroidism presented with shortness of breath and hypoxia. Echo showed large RA myxoma with ASD causing right to left shunt.
中年男性甲减一例,以呼吸短促、缺氧为表现。回声显示大的类风湿性关节炎黏液瘤伴ASD,引起右至左分流。
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引用次数: 0
Congenital syphilis. New questions about a neglected but re-emerging condition 先天性梅毒。关于一种被忽视但又重新出现的疾病的新问题
Pub Date : 2022-08-03 DOI: 10.15446/cr.v8n1.99963
Hernando Gaitán Duarte
In this issue of Case Reports, Cifuentes-Cifuentes et al. (1) describe a case of congenital syphilis (CS) in a newborn resulting from the first pregnancy of a woman who, despite having been diagnosed with syphilis through serological tests four years earlier, had not received treatment.
在这一期的病例报告中,Cifuentes-Cifuentes等人(1)描述了一个新生儿先天性梅毒(CS)的病例,该病例是由一名妇女第一次怀孕引起的,尽管四年前通过血清学检测被诊断患有梅毒,但没有接受治疗。
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引用次数: 0
Adenoma metanéfrico: diagnóstico diferencial del carcinoma urotelial del tracto urinario superior. Reporte de un caso 后肾腺瘤:尿路上皮癌的鉴别诊断。报告个案
Pub Date : 2022-08-03 DOI: 10.15446/cr.v8n1.92283
David Andrés Castañeda Millán, Juan Camilo Álvarez Restrepo, Víctor Iván Romero Nieto, Diego Camacho Nieto, Wilfredo Donoso Donoso, Jorge Forero Muñoz
Introduction: Metanephric adenoma is a rare benign kidney tumor. Patients with these tumors are usually asymptomatic, although polycythemia occurs in up 12% of cases. These masses are often described on diagnostic imaging as solid, single, well-defined, oval-shaped, unilateral lesions, located primarily in the renal medulla and without extrarenal involvement. These neoplasms are difficult to differentiate from malignant neoplasms of the upper urinary tract, so the definitive diagnosis is achieved by histopathology. Currently, the treatment of choice is radical nephrectomy.Case presentation: A 51-year-old woman from Bogotá (Colombia) was referred to the urology service of a tertiary care hospital due to bilateral lumbar pain of non-specific characteristics. At the time of consultation, the patient was asymptomatic. Renal and urinary tract ultrasound showed hydronephrosis and right renal mass. Computed tomography urography was requested, which revealed a lesion in the right renal pelvis with parenchymal invasion highly suggestive of high-risk upper urinary tract urothelial carcinoma, as well as adenopathies in the para-aortic lymph nodes. The patient underwent a radical nephroureterectomy with bladder cuff, which allowed establishing a final diagnosis of metanephric adenoma according to the histopathological study.Conclusions: Metanephric adenoma is a rare tumor that is difficult to diagnose through imaging, so it is necessary to explore additional tools to establish an accurate pre-surgical diagnosis that allows preserving the affected renal unit. Also, given their non-specificity, these tumors should be included in the differential diagnosis of lesions suggestive of upper tract urothelial carcinoma.
后肾腺瘤是一种罕见的良性肾脏肿瘤。这些肿瘤患者通常无症状,尽管有12%以上的病例发生红细胞增多症。这些肿块通常在诊断影像上被描述为实心的、单一的、界限清晰的、椭圆形的单侧病变,主要位于肾髓质,未累及肾外。这些肿瘤很难与上尿路的恶性肿瘤区分,因此最终的诊断是通过组织病理学实现的。目前,首选的治疗方法是根治性肾切除术。病例介绍:来自波哥大(哥伦比亚)的51岁妇女因非特异性双侧腰痛被转介到一家三级护理医院的泌尿科。在会诊时,患者无症状。肾脏及尿路超音波显示肾积水及右侧肾肿块。ct尿路造影显示右侧肾盂病变伴实质浸润,提示高危上尿路尿路上皮癌及主动脉旁淋巴结腺病变。患者接受了根治性肾输尿管切除术和膀胱袖,根据组织病理学研究确定了后肾腺瘤的最终诊断。结论:后肾腺瘤是一种罕见的肿瘤,难以通过影像学诊断,因此有必要探索其他工具来建立准确的术前诊断,并保留受影响的肾脏单位。此外,鉴于其非特异性,这些肿瘤应包括在提示上尿路上皮癌病变的鉴别诊断中。
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引用次数: 0
Severe congenital diarrhea secondary to tufting enteropathy. Case report 继发于丛状肠病的严重先天性腹泻。病例报告
Pub Date : 2022-08-03 DOI: 10.15446/cr.v8n1.90883
L. González-Hakspiel, María Angélica Wilches-Cuadros, Paula Andrea Nausa-Suárez, F. Fernández, Paula Patiño-Ascencio, Alejandra Manrique-Guerrero, Díaz-Díaz Díaz-Díaz, Castro-Rojas Castro-Rojas
Introduction: Tufting enteropathy is a rare cause of congenital diarrhea in neonates. It is characterized by the abnormal distribution of epithelial adhesion molecules, which causes enterocytes to shed into the lumen, forming the characteristic tufts.Case presentation: A 15-day-old female neonate was taken by her parents to the emergency department of a tertiary care hospital due to diarrheal stools she had been experiencing since birth. The patient presented with dehydration, abnormal weight loss, metabolic acidosis, and acute kidney failure. She received treatment with alizapride, loperamide, zinc sulfate, and probiotics, but after 75 days of treatment she was still symptomatic. An upper tract endoscopy and colonoscopy were performed, finding flattening of the villi and lymphoid cells in the lamina propria. However, the symptoms persisted, and she died at the age of ten months. A post-mortem exome sequencing reported tufting enteropathy.Conclusions. When congenital diarrhea is present, tufting enteropathy should be considered. An early molecular study would allow to evaluate the possibility of performing an intestinal transplant or modifying the treatment to meet the patient’s palliative care needs.
摘要簇生性肠病是一种罕见的新生儿先天性腹泻的病因。其特点是上皮黏附分子分布异常,导致肠细胞脱落进入管腔,形成特征性的簇状。病例介绍:一名出生15天的女婴因出生后便腹泻,被父母带到三级医院急诊科就诊。患者表现为脱水、体重异常减轻、代谢性酸中毒和急性肾衰竭。患者接受阿利沙必利、洛哌丁胺、硫酸锌和益生菌治疗,但治疗75天后仍有症状。经上消化道内窥镜及结肠镜检查,发现固有层绒毛及淋巴样细胞变平。然而,症状持续存在,她在十个月大时死亡。尸检外显子组测序报告簇状肠病。当存在先天性腹泻时,应考虑丛状肠病。一项早期的分子研究将允许评估进行肠道移植或修改治疗以满足患者姑息治疗需求的可能性。
{"title":"Severe congenital diarrhea secondary to tufting enteropathy. Case report","authors":"L. González-Hakspiel, María Angélica Wilches-Cuadros, Paula Andrea Nausa-Suárez, F. Fernández, Paula Patiño-Ascencio, Alejandra Manrique-Guerrero, Díaz-Díaz Díaz-Díaz, Castro-Rojas Castro-Rojas","doi":"10.15446/cr.v8n1.90883","DOIUrl":"https://doi.org/10.15446/cr.v8n1.90883","url":null,"abstract":"Introduction: Tufting enteropathy is a rare cause of congenital diarrhea in neonates. It is characterized by the abnormal distribution of epithelial adhesion molecules, which causes enterocytes to shed into the lumen, forming the characteristic tufts.\u0000Case presentation: A 15-day-old female neonate was taken by her parents to the emergency department of a tertiary care hospital due to diarrheal stools she had been experiencing since birth. The patient presented with dehydration, abnormal weight loss, metabolic acidosis, and acute kidney failure. She received treatment with alizapride, loperamide, zinc sulfate, and probiotics, but after 75 days of treatment she was still symptomatic. An upper tract endoscopy and colonoscopy were performed, finding flattening of the villi and lymphoid cells in the lamina propria. However, the symptoms persisted, and she died at the age of ten months. A post-mortem exome sequencing reported tufting enteropathy.\u0000Conclusions. When congenital diarrhea is present, tufting enteropathy should be considered. An early molecular study would allow to evaluate the possibility of performing an intestinal transplant or modifying the treatment to meet the patient’s palliative care needs.","PeriodicalId":73637,"journal":{"name":"Journal of cardiology case reports","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84826524","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}
引用次数: 0
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Journal of cardiology case reports
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