Josefa Alfonso MD , Francisco Medina MD , Salvador Madrid MD
{"title":"Amiloidosis de cadenas ligeras con afectación cardíaca y gastrointestinal en un paciente adulto mayor: reporte de un caso clínico","authors":"Josefa Alfonso MD , Francisco Medina MD , Salvador Madrid MD","doi":"10.1016/j.rmclc.2025.01.005","DOIUrl":"10.1016/j.rmclc.2025.01.005","url":null,"abstract":"<div><h3>Introduction</h3><div>Light chain amyloidosis (AL) is a rare condition characterized by multisystem involvement. Due to the non-specific nature of its symptoms, there is often a significant delay between the onset of symptoms and a definitive diagnosis. Here, we present the case of a patient with predominant gastrointestinal and cardiac involvement.</div></div><div><h3>Case report</h3><div>A previously healthy 64-year-old female presented with a six-month history of asthenia, 15<!--> <!-->kg weight loss with preserved appetite and chronic diarrhea. Upper endoscopy revealed erosive gastropathy and villous atrophy, later confirmed as systemic amyloidosis by duodenal biopsy with positive Congo Red staining. The patient developed pleuritic pain and pleural effusion, leading to a diagnosis of pneumonia. Cardiac studies revealed amyloid cardiomyopathy. Stage III amyloidosis AL with lambda light chains was diagnosed. During her hospitalization, the patient required a pacemaker due to cardiac rhythm disturbances and began chemotherapy with the CyBorD regimen, with good clinical response. She is currently receiving outpatient treatment, with good tolerance to the second cycle of chemotherapy.</div></div><div><h3>Discussion</h3><div>In our patient, the diagnosis of amyloidosis AL was primarily based on histological findings in the gastrointestinal tract. Of note was the rapid cardiac involvement, making it challenging to optimize pharmacological treatment. We highlight this case due to the rarity of the disease and the significant therapeutic challenges it presents.</div></div>","PeriodicalId":31544,"journal":{"name":"Revista Medica Clinica Las Condes","volume":"36 1","pages":"Pages 42-46"},"PeriodicalIF":0.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143452774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"¿Será esta plasmocitosis una neoplasia de células plasmáticas? La importancia en la distinciÓn entre una plasmocitosis reactiva y una clonal: reporte de un caso","authors":"Rodrigo Naser MD , Ignacio Domínguez MD , Alejandro Revello MD , Marcelo Abarca MD","doi":"10.1016/j.rmclc.2025.01.006","DOIUrl":"10.1016/j.rmclc.2025.01.006","url":null,"abstract":"<div><div>We present the case of a 76-year-old man, previously healthy, who developed a lymphoproliferative syndrome manifested by plasmacytosis. Due to his medical complications, the patient required respiratory and hemodynamic support. This case prompts us to reflect: what factors can guide the identification of causes of plasmacytosis other than multiple myeloma?</div></div>","PeriodicalId":31544,"journal":{"name":"Revista Medica Clinica Las Condes","volume":"36 1","pages":"Pages 36-41"},"PeriodicalIF":0.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143453134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Carolina Abreu MD, Marta Ferreira MD, Pedro Moules MD, Carla Noronha MD, Ana Isabel Reis MD
{"title":"Granulomatosis with polyangiitis and neuroendocrine intestinal tumor: a unique and challenging combination in a case report","authors":"Carolina Abreu MD, Marta Ferreira MD, Pedro Moules MD, Carla Noronha MD, Ana Isabel Reis MD","doi":"10.1016/j.rmclc.2025.01.003","DOIUrl":"10.1016/j.rmclc.2025.01.003","url":null,"abstract":"<div><div>We report the case of a 43-year-old male smoker who presented to the emergency department with skin lesions resembling pyoderma on the lower extremities, punctate and necrotic digital ulcers, fever, malaise, polyarthralgia and elevated inflammatory markers. He later developed bilateral, asymptomatic cavitary pulmonary nodules, diffuse alveolar hemorrhage, pansinusitis, and positive PR3-ANCA, establishing the diagnosis of GPA. An excellent initial response was observed with pulse methylprednisolone, oral prednisolone, intravenous pulse cyclophosphamide, and hyperbaric oxygen therapy (HOT).</div><div>Three months later, however, he was diagnosed with a NET of the small intestine. It was polypoid and multifocal, with high catecholamine production but low Ki-67, leading to a reduction in immunosuppressive therapy. Two new flares occurred, with skin, renal, ocular, intestinal, and joint involvement, along with elevated c-ANCA levels, prompting a reinduction strategy with rituximab, plasmapheresis, corticosteroids, and HOT, resulting in significant improvement.</div><div>In addition to the complex and challenging clinical management of this case, this unique combination – GPA and NET – is highlighted.</div></div>","PeriodicalId":31544,"journal":{"name":"Revista Medica Clinica Las Condes","volume":"36 1","pages":"Pages 25-30"},"PeriodicalIF":0.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143452709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Neguith Marrugo MD , Elián Giordanino MD , Gerardo Palma MD , Juan Carlos Venegas MD
{"title":"Hipertensión pulmonar y enfermedad del tejido conectivo, una grave presentación","authors":"Neguith Marrugo MD , Elián Giordanino MD , Gerardo Palma MD , Juan Carlos Venegas MD","doi":"10.1016/j.rmclc.2025.01.004","DOIUrl":"10.1016/j.rmclc.2025.01.004","url":null,"abstract":"<div><h3>Introduction</h3><div>Pulmonary arterial hypertension (PAH) is a rare condition characterized by elevated pulmonary artery pressure (>20<!--> <!-->mmHg) and increased vascular resistance. It affects 5 to 15 adults per million, causing dyspnea, chest pain, risk of right heart failure and death. Below, we describe a case of severe pulmonary arterial hypertension whose diagnosis was established after a recovered cardiac arrest.</div></div><div><h3>Clinical Case</h3><div>A 48-year-old man presented with edema, presyncope, and progressive dyspnea over 6 months. He suffered a cardiorespiratory arrest due to pulseless electrical activity and subsequent asystole, requiring resuscitation, norepinephrine, and mechanical ventilation. Echocardiography revealed severe pulmonary hypertension (pulmonary artery systolic pressure of 59<!--> <!-->mmHg), preserved left ventricular function, and severe right ventricular dilation. Computed tomography angiography ruled out pulmonary embolism. Treatment with dobutamine and negative fluid balance improved his hemodynamics. Right heart catheterization confirmed precapillary pulmonary hypertension. Sildenafil, nitric oxide, and later, ambrisentan were initiated. Rheumatologic studies identified rheumatoid arthritis with overlapping Sjögren syndrome as the likely etiology of his pulmonary hypertension. The patient improved with targeted pulmonary hypertension therapy and prednisone, was successfully weaned off mechanical ventilation and was discharged, remaining stable at the one-month follow-up.</div></div><div><h3>Discussion</h3><div>PAH associated with connective tissue diseases, such as Sjögren syndrome and rheumatoid arthritis is rare. Treatments include endothelin receptor antagonists, phosphodiesterase-5 inhibitors, prostanoids, and drug combinations. Appropriate immunological treatment for underlying rheumatologic diseases, like rheumatoid arthritis, may improve PAH. In this case, an integral approach, including pulmonary vasodilators and preload control, was key to the patient's recovery.</div></div>","PeriodicalId":31544,"journal":{"name":"Revista Medica Clinica Las Condes","volume":"36 1","pages":"Pages 31-35"},"PeriodicalIF":0.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143452710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Revisión de artrodesis subtalar por no unión: a propósito de un caso","authors":"Gregorio Verschae MD , Valentín Val MD , Vicente Alba MD , Andrés Cáceres MD , Sebastián Pavez MD , Nicolás Cid MD","doi":"10.1016/j.rmclc.2025.01.002","DOIUrl":"10.1016/j.rmclc.2025.01.002","url":null,"abstract":"<div><h3>Introduction</h3><div>Subtalar arthrodesis is a surgical procedure aimed at fusing the subtalar joint. One of the most common complications of this procedure is non-union. This article aims to analyze the study and management of non-union in general, as well as its specific approach in the context of subtalar arthrodesis. Given that this is a common complication, it is crucial to enhance knowledge on this topic.</div></div><div><h3>Case Report</h3><div>42-year-old healthy male patient with a background of post-traumatic osteoarthritis of the left ankle, initially treated with tibiotalar arthrodesis in 2022 with subsequent revisions due to poor outcomes, presenting osteoarthritis of the subtalar joint that required management with a subtalar arthrodesis. The latter evolved with symptomatic non-union and it was decided to perform a revision subtalar arthrodesis in July 2024.</div></div><div><h3>Result</h3><div>The patient showed a favourable postoperative clinical evolution, with adequate alignment and position of the osteosynthesis elements, with no signs of infection. At the last check-up (one month postoperatively), protected loading with an orthopaedic boot was started, showing a good recovery.</div></div><div><h3>Conclusions</h3><div>Non-unions in joint fusions, particularly in subtalar arthrodesis, represent a significant challenge in traumatology, with high complication rates. Evaluation of non-unions should include a thorough clinical examination, laboratory testing and imaging techniques. Identification of risk factors, both systemic and local, along with proper surgical planning, are essential in preventing complications. Treatment strategies should address the underlying causes; surgical options and their success should have a multidimensional approach that addresses both technical and biological aspects of the procedure. Finally, the implementation of well-structured diagnostic and therapeutic algorithms is crucial to improve functional outcomes and ensure successful bone fusion.</div></div>","PeriodicalId":31544,"journal":{"name":"Revista Medica Clinica Las Condes","volume":"36 1","pages":"Pages 13-20"},"PeriodicalIF":0.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143453417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Lipoma intraóseo del calcáneo: un hallazgo radiológico infrecuente. Un caso clínico","authors":"Nerea Sánchez-Varela MD , Lara Ferreiro-Abuin MD , Manuel Portela-Romero MD, MSc","doi":"10.1016/j.rmclc.2024.11.001","DOIUrl":"10.1016/j.rmclc.2024.11.001","url":null,"abstract":"<div><h3>Objective</h3><div>Intraosseus lipomas are an uncommon pathological entity. Its prevalence, however, is believed to be underestimated. We present a clinical case seen in a medical center consultation.</div></div><div><h3>Clinical case</h3><div>We report the case of a 57-year-old man without noteworthy pathological or family history, who consults at his health center due to periodic mild mechanical right heel pain during the past year.</div></div><div><h3>Results</h3><div>A simple imaging study of the affected foot was requested, which revealed a well-defined osteolytic lesion with a thin, linear sclerotic margin and a central calcification, without cortical disruption or involvement of adjacent soft tissues, exhibiting a nonaggressive radiological appearance. This image is referred to as a “bull's eye” or “cokade” and is suggestive of an intraosseous lipoma. The diagnosis was confirmed with the performance of magnetic resonance imaging.</div></div><div><h3>Conclusion</h3><div>The nonaggressive characteristics of this disease guides towards conservative management of intraosseus lipoma, reserving invasive surgical options only in case of complications or increased fracture risk.</div></div>","PeriodicalId":31544,"journal":{"name":"Revista Medica Clinica Las Condes","volume":"36 1","pages":"Pages 21-24"},"PeriodicalIF":0.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143453070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"La Discusión Clínica: Un puente a través del tiempo","authors":"","doi":"10.1016/j.rmclc.2025.02.005","DOIUrl":"10.1016/j.rmclc.2025.02.005","url":null,"abstract":"","PeriodicalId":31544,"journal":{"name":"Revista Medica Clinica Las Condes","volume":"36 1","pages":"Page 64"},"PeriodicalIF":0.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143453415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Andrés Cáceres MD , Juan Pablo Rojas MD , Víctor de Vos MD , Nicolás Cid MD , Gregorio Verschae MD
{"title":"Luxofractura de Bosworth: reporte de dos casos con diferentes resultados","authors":"Andrés Cáceres MD , Juan Pablo Rojas MD , Víctor de Vos MD , Nicolás Cid MD , Gregorio Verschae MD","doi":"10.1016/j.rmclc.2025.01.001","DOIUrl":"10.1016/j.rmclc.2025.01.001","url":null,"abstract":"<div><div>Bosworth fracture dislocation is a rare ankle injury in which the proximal fracture fragment of the fibula becomes trapped in the posterior tubercle of the distal tibia. It requires early diagnosis and management due to important functional sequelae if surgical resolution is delayed. This article reports two patients with this lesion, one of them treated late with later major sequelae. In contrast, the second case experienced early resolution and favorable functional results. This is consistent with what is reported in the literature, emphasizing the importance of early recognition and treatment.</div></div>","PeriodicalId":31544,"journal":{"name":"Revista Medica Clinica Las Condes","volume":"36 1","pages":"Pages 7-12"},"PeriodicalIF":0.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143453416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Leiomioma anal: reporte de un caso","authors":"Alejandro Zárate MD , María Trinidad Triat MD","doi":"10.1016/j.rmclc.2025.02.001","DOIUrl":"10.1016/j.rmclc.2025.02.001","url":null,"abstract":"<div><h3>Objective</h3><div>To present the clinical characteristics, diagnostic study and treatment of a patient with a perianal mass, ultimately diagnosed as a leiomyoma.</div></div><div><h3>Clinical case</h3><div>43-year-old female patient, who consulted because of discomfort and a non-bleeding perianal mass found 3 months prior that had been treated as inflamed hemorrhoids. Upon examination by a specialist, a nodule measuring 3<!--> <!-->×<!--> <!-->3<!--> <!-->×<!--> <!-->3<!--> <!-->cm, with semi-solid consistency and no inflammatory signs, stands out in the right lateral perianal area. The MRI shows a solid tumor adjacent to the external anal sphincter. The colonoscopy did not reveal intraluminal lesions. Surgical procedure: right lateral perianal incision, surrounding and completely resecting the tumor. The patient was discharged the next day.</div></div><div><h3>Results</h3><div>Pathological report: Well-defined tumor composed by fused cells with oval-elongated nuclei, blunt edges and small amount of eosinophilic cytoplasm, arranged as disorganized fascicles intertwined in a fibrous stroma. Histochemical study: desmin: positive, DOG1: negative, S100: negative; confirming the diagnosis of this leiomyoma. After a 2-year follow-up, no clinical or radiological recurrence is observed.</div></div><div><h3>Conclusion</h3><div>This case displays the need to consider differential diagnoses in patients with a perianal mass that do not respond to classic treatment.</div></div>","PeriodicalId":31544,"journal":{"name":"Revista Medica Clinica Las Condes","volume":"36 1","pages":"Pages 47-50"},"PeriodicalIF":0.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143452775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Reunidos en torno al paciente, un espacio de encuentro y colaboración atemporal","authors":"","doi":"10.1016/j.rmclc.2025.02.004","DOIUrl":"10.1016/j.rmclc.2025.02.004","url":null,"abstract":"","PeriodicalId":31544,"journal":{"name":"Revista Medica Clinica Las Condes","volume":"36 1","pages":"Page 6"},"PeriodicalIF":0.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143453069","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}