Tong Ren, Jennifer Foster, Alex Wu, Alisher Hamidullah, Eric Sladek
Positron emission tomography (PET) has gained widespread acceptance as a valuable diagnostic tool for cancer. It is rare for a PET/CT scan to overlook the presence of metastatic disease. Sebaceous carcinoma is an uncommon malignant tumour that typically originates in the skin of the eyelid. In this case report, we present a unique case involving a metastatic sebaceous carcinoma that was not initially detected by a PET/CT scan in an 88-year-old female. Therefore, clinicians must maintain a heightened awareness of sebaceous carcinoma and exercise caution when making decisions solely based on PET scan results. It is crucial to recognise this potential limitation of PET scans in sebaceous carcinoma and consider further diagnostic approaches to ensure timely and accurate detection of sebaceous carcinoma.
正电子发射断层扫描（PET）作为一种有价值的癌症诊断工具已被广泛接受。正电子发射计算机断层扫描很少会忽略转移性疾病的存在。皮脂腺癌是一种不常见的恶性肿瘤，通常起源于眼睑皮肤。在本病例报告中，我们介绍了一例独特的病例，患者是一名 88 岁的女性，其皮脂腺转移癌最初未被 PET/CT 扫描发现。因此，临床医生必须对皮脂腺癌保持高度警惕，在仅根据 PET 扫描结果做出决定时必须谨慎。认识到正电子发射计算机断层扫描在皮脂腺癌中的潜在局限性并考虑进一步的诊断方法以确保及时准确地发现皮脂腺癌至关重要。
{"title":"False-negative PET/CT scan with metastatic sebaceous carcinoma: an important diagnostic consideration","authors":"Tong Ren, Jennifer Foster, Alex Wu, Alisher Hamidullah, Eric Sladek","doi":"10.12890/2024_004491","DOIUrl":"https://doi.org/10.12890/2024_004491","url":null,"abstract":"Positron emission tomography (PET) has gained widespread acceptance as a valuable diagnostic tool for cancer. It is rare for a PET/CT scan to overlook the presence of metastatic disease. Sebaceous carcinoma is an uncommon malignant tumour that typically originates in the skin of the eyelid. In this case report, we present a unique case involving a metastatic sebaceous carcinoma that was not initially detected by a PET/CT scan in an 88-year-old female. Therefore, clinicians must maintain a heightened awareness of sebaceous carcinoma and exercise caution when making decisions solely based on PET scan results. It is crucial to recognise this potential limitation of PET scans in sebaceous carcinoma and consider further diagnostic approaches to ensure timely and accurate detection of sebaceous carcinoma.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"24 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140980355","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}
The incidence of post-infectious autoimmune diseases has been on the rise following the COVID-19 pandemic. Recently, an autistic patient was admitted to the hospital presenting with a mild upper respiratory system COVID-19 infection. Months after recovery and polymerase chain reaction negativity, the patient developed HEp-2 cell positivity and presented with relapsing polychondritis (RP), a rare autoimmune disease. The mechanism of this autoimmune invasion is ultimately caused by activating a myriad of immune reactions. Lymphocytopenia almost always accompanies various clinical forms of COVID-19; however, it may drive the lymphocytopenia-induced proliferation of autoreactive T cells via the activation of interleukin-6 (IL-6). Moreover, high levels of neutrophils during infection promote autoimmune disease by releasing cytokine and chemokine cascades that accompany inflammation, and neutrophil extracellular traps regulating immune responses through cell–cell interactions. Furthermore, autism spectrum disorder patients display an altered immune system that includes an augmented inflammatory cytokine milieu leading to an increased pro-inflammatory Th1/Th2 ratio. In addition, the pathophysiology of RP is majorly associated with a cell-mediated immune reaction; thus, the predisposing exaggerated immune system of such patients must also be considered as a predisposing factor to the development of post-infectious autoimmune diseases.
{"title":"A rare post-infectious autoimmune manifestation of COVID-19","authors":"Fatih Kaya, Tarek Alsafdi, Manar Hussam Al-Suleh","doi":"10.12890/2024_004542","DOIUrl":"https://doi.org/10.12890/2024_004542","url":null,"abstract":"The incidence of post-infectious autoimmune diseases has been on the rise following the COVID-19 pandemic. Recently, an autistic patient was admitted to the hospital presenting with a mild upper respiratory system COVID-19 infection. Months after recovery and polymerase chain reaction negativity, the patient developed HEp-2 cell positivity and presented with relapsing polychondritis (RP), a rare autoimmune disease. The mechanism of this autoimmune invasion is ultimately caused by activating a myriad of immune reactions. Lymphocytopenia almost always accompanies various clinical forms of COVID-19; however, it may drive the lymphocytopenia-induced proliferation of autoreactive T cells via the activation of interleukin-6 (IL-6). Moreover, high levels of neutrophils during infection promote autoimmune disease by releasing cytokine and chemokine cascades that accompany inflammation, and neutrophil extracellular traps regulating immune responses through cell–cell interactions. Furthermore, autism spectrum disorder patients display an altered immune system that includes an augmented inflammatory cytokine milieu leading to an increased pro-inflammatory Th1/Th2 ratio. In addition, the pathophysiology of RP is majorly associated with a cell-mediated immune reaction; thus, the predisposing exaggerated immune system of such patients must also be considered as a predisposing factor to the development of post-infectious autoimmune diseases.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"33 37","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140980230","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}
Antoine Jeri-Yabar, Liliana Vittini-Hernandez, Bharati Dev, Marissa Patel, Meihuan Lin
Introduction: Diffuse large B-cell lymphoma (DLBCL) is a prevalent subtype of non-Hodgkin lymphoma (NHL) affecting predominantly elderly individuals. Case description: A 68-year-old man with a history of hypertension, hyperlipidaemia and a small pituitary gland tumour presented with sudden-onset binocular diplopia and right-eye blurry vision. A magnetic resonance imaging (MRI) of the brain revealed enhancing soft tissue in the right superolateral orbit inseparable from the lacrimal gland, extending medially to the right superior rectus muscle and soft tissue. Further scanning showed widespread metastasis to the bilateral retroperitoneal lymph nodes, adrenal gland, spine and lymph nodes in the neck. A biopsy of the lacrimal gland confirmed DLBCL. Conclusion: Primary lacrimal gland DLBCL is a rare and delayed diagnosis that often stems from the resemblance of its clinical manifestations to more benign conditions such as dacryocystitis, dacryostenosis or mucocele. Timely recognition and accurate diagnosis are essential for initiating appropriate treatment and improving patient outcomes.
导言：弥漫大 B 细胞淋巴瘤（DLBCL）是非霍奇金淋巴瘤（NHL）的一种流行亚型，主要影响老年人。病例描述一名有高血压、高脂血症和垂体小肿瘤病史的 68 岁男子突然出现双眼复视和右眼视力模糊。脑部磁共振成像（MRI）显示，右侧眼眶上外侧软组织增强，与泪腺密不可分，向内侧延伸至右侧上直肌和软组织。进一步扫描显示，肿瘤广泛转移至双侧腹膜后淋巴结、肾上腺、脊柱和颈部淋巴结。泪腺活检证实为 DLBCL。结论原发性泪腺DLBCL是一种罕见的延误诊断病症，其临床表现往往与泪囊炎、泪管狭窄症或粘液囊肿等良性病症相似。及时识别和准确诊断对于开始适当治疗和改善患者预后至关重要。
{"title":"Lacrimal sac diffuse large B-cell lymphoma presenting as sudden-onset binocular diplopia","authors":"Antoine Jeri-Yabar, Liliana Vittini-Hernandez, Bharati Dev, Marissa Patel, Meihuan Lin","doi":"10.12890/2024_004503","DOIUrl":"https://doi.org/10.12890/2024_004503","url":null,"abstract":"Introduction: Diffuse large B-cell lymphoma (DLBCL) is a prevalent subtype of non-Hodgkin lymphoma (NHL) affecting predominantly elderly individuals. Case description: A 68-year-old man with a history of hypertension, hyperlipidaemia and a small pituitary gland tumour presented with sudden-onset binocular diplopia and right-eye blurry vision. A magnetic resonance imaging (MRI) of the brain revealed enhancing soft tissue in the right superolateral orbit inseparable from the lacrimal gland, extending medially to the right superior rectus muscle and soft tissue. Further scanning showed widespread metastasis to the bilateral retroperitoneal lymph nodes, adrenal gland, spine and lymph nodes in the neck. A biopsy of the lacrimal gland confirmed DLBCL. Conclusion: Primary lacrimal gland DLBCL is a rare and delayed diagnosis that often stems from the resemblance of its clinical manifestations to more benign conditions such as dacryocystitis, dacryostenosis or mucocele. Timely recognition and accurate diagnosis are essential for initiating appropriate treatment and improving patient outcomes.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"90 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140978593","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}
Background: Vaccine-induced immune thrombotic thrombocytopenia (VITT) is a rare life-threatening thrombotic reaction to COVID-19 vaccines. Case description: Two young male first cousins, with a family history of idiopathic thrombocytopenic purpura, developed VITT after the Ad26.COV2.S vaccine. Both had a favourable clinical and analytical outcome. We investigated the genetic factors that could be associated with a genetic predisposition to VITT. Conclusions: There are no published cases where the VITT patients were relatives. The genetic study did not reveal any likely pathogenic variants, although the prevalent polymorphism c.497A>G (p.(His166Arg)) in the FCGR2A gene was found in a homozygous state. More studies are required to better understand VITT’s pathophysiology and any underlying genetic predispositions.
{"title":"Genetic predisposition to vaccine-induced immune thrombotic thrombocytopenia: is there a family link?","authors":"Rita Pombal, Luciana Silva, David Ferreira","doi":"10.12890/2024_004546","DOIUrl":"https://doi.org/10.12890/2024_004546","url":null,"abstract":"Background: Vaccine-induced immune thrombotic thrombocytopenia (VITT) is a rare life-threatening thrombotic reaction to COVID-19 vaccines. Case description: Two young male first cousins, with a family history of idiopathic thrombocytopenic purpura, developed VITT after the Ad26.COV2.S vaccine. Both had a favourable clinical and analytical outcome. We investigated the genetic factors that could be associated with a genetic predisposition to VITT. Conclusions: There are no published cases where the VITT patients were relatives. The genetic study did not reveal any likely pathogenic variants, although the prevalent polymorphism c.497A>G (p.(His166Arg)) in the FCGR2A gene was found in a homozygous state. More studies are required to better understand VITT’s pathophysiology and any underlying genetic predispositions.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"29 35","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140980301","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}
Late onset combined immunodeficiency (LOCID) is a rare variant of common variable immunodeficiency (CVID), typically affecting adult patients who present with opportunistic infections (OI) and/or low CD4+ T lymphocytes. Diagnostic delay is common due to the rareness of this entity, increasing morbidity and mortality. We report on a 66-year-old male who developed a severe gastrointestinal cytomegalovirus (CMV) infection, refractory to antiviral treatment and anti-cytomegalovirus specific human immunoglobulin administration, with a fatal outcome due to an undiagnosed LOCID.
晚发型联合免疫缺陷症（LOCID）是普通可变免疫缺陷症（CVID）的一种罕见变异型，通常影响那些出现机会性感染（OI）和/或 CD4+ T 淋巴细胞低下的成年患者。由于这种病症的罕见性，诊断延误很常见，从而增加了发病率和死亡率。我们报告了一名 66 岁男性患者的病例，他出现了严重的胃肠道巨细胞病毒（CMV）感染，抗病毒治疗和抗巨细胞病毒特异性人免疫球蛋白治疗均无效，最终因未确诊的 LOCID 而死亡。
{"title":"Severe gastrointestinal cytomegalovirus infection in a patient diagnosed with late onset combined immunodeficiency","authors":"Georgina Sauqué Pintos, Arnau Antolí Gil, Gemma Rocamora Blanch, Renzo Avila Espinoza, Rosario Taco Sánchez, Núria Sabé Fernández, X. Solanich Moreno","doi":"10.12890/2024_004390","DOIUrl":"https://doi.org/10.12890/2024_004390","url":null,"abstract":"Late onset combined immunodeficiency (LOCID) is a rare variant of common variable immunodeficiency (CVID), typically affecting adult patients who present with opportunistic infections (OI) and/or low CD4+ T lymphocytes. Diagnostic delay is common due to the rareness of this entity, increasing morbidity and mortality. We report on a 66-year-old male who developed a severe gastrointestinal cytomegalovirus (CMV) infection, refractory to antiviral treatment and anti-cytomegalovirus specific human immunoglobulin administration, with a fatal outcome due to an undiagnosed LOCID.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"30 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140983958","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}
Geeta Bhagia, Nasir Hussain, Fnu Arty, Victor Farah, Robert Biederman
Background: Wellens’ syndrome is characterised by a history of chest pain with an abnormal electrocardiogram (EKG), demonstrating biphasic or deeply inverted T waves in leads V2–3 (may extend to involve all precordial and lateral limb leads – the type B Wellens’ pattern). A Wellens’ EKG pattern is considered highly specific for critical stenosis involving the ostial/proximal left anterior descending artery (LAD). However, there are no reported cases of an association of a Wellens’ EKG pattern with myopericarditis. Here, we present such a rare case. Case description: A thirty-one-year-old female with known essential hypertension and psoriatic arthritis presented with a constant, central chest pain radiating to the shoulders and back. The patient’s physical examination was unremarkable at presentation other than elevated blood pressure at 170/68 mmHg. An EKG at presentation demonstrated deep symmetric T-wave inversions in anterolateral leads with elevated high-sensitivity troponin, and an elevated erythrocyte sedimentation rate. The patient was referred to the cardiac catheterisation laboratory for concerns of a Wellens’ EKG pattern; however, invasive angiography demonstrated only obtuse marginal branch disease – no LAD disease was noted. Cardiac magnetic resonance (CMR) imaging confirmed the diagnosis of myopericarditis and absence of myocardial infarction. The patient was medically managed and discharged home in a stable condition. Conclusion: In literature and established clinical practice, the Wellens’ EKG pattern is considered highly concerning for critical ostial/proximal LAD stenosis. However, we now propose that myopericarditis may be considered in a differential diagnosis for this EKG pattern.
背景：韦伦斯综合征的特征是胸痛病史伴有异常心电图（EKG），在 V2-3 导联显示双相或深倒置 T 波（可扩展到所有心前区和侧肢导联--B 型韦伦斯模式）。韦伦斯心电图模式被认为对涉及左前降支动脉（LAD）的骨面/近端重度狭窄具有高度特异性。然而，目前还没有韦伦斯心电图模式与心肌炎相关的病例报道。在此，我们将介绍这样一个罕见病例。病例描述：一名三十一岁的女性，已知患有原发性高血压和银屑病关节炎，出现持续性、中心性胸痛，并向肩部和背部放射。患者就诊时除血压升高至 170/68 mmHg 外，其他体格检查均无异常。就诊时的心电图显示，前外侧导联出现深对称 T 波倒置，高敏肌钙蛋白升高，红细胞沉降率升高。由于担心出现韦伦斯心电图模式，患者被转诊至心导管室；然而，有创血管造影术仅显示出钝性边缘分支病变，未发现左侧动脉病变。心脏磁共振（CMR）成像证实了心肌炎的诊断，但未发现心肌梗死。患者接受了药物治疗，病情稳定后出院回家。结论在文献和既有的临床实践中，Wellens'心电图模式被认为是严重的主动脉瓣口/近端狭窄的高危因素。不过，我们现在建议，心肌炎也可以作为这种心电图模式的鉴别诊断。
{"title":"Left anterior descending coronary T-wave inversion pattern (Wellens’ syndrome) associated with myopericarditis and a normal left coronary artery","authors":"Geeta Bhagia, Nasir Hussain, Fnu Arty, Victor Farah, Robert Biederman","doi":"10.12890/2024_004525","DOIUrl":"https://doi.org/10.12890/2024_004525","url":null,"abstract":"Background: Wellens’ syndrome is characterised by a history of chest pain with an abnormal electrocardiogram (EKG), demonstrating biphasic or deeply inverted T waves in leads V2–3 (may extend to involve all precordial and lateral limb leads – the type B Wellens’ pattern). A Wellens’ EKG pattern is considered highly specific for critical stenosis involving the ostial/proximal left anterior descending artery (LAD). However, there are no reported cases of an association of a Wellens’ EKG pattern with myopericarditis. Here, we present such a rare case. Case description: A thirty-one-year-old female with known essential hypertension and psoriatic arthritis presented with a constant, central chest pain radiating to the shoulders and back. The patient’s physical examination was unremarkable at presentation other than elevated blood pressure at 170/68 mmHg. An EKG at presentation demonstrated deep symmetric T-wave inversions in anterolateral leads with elevated high-sensitivity troponin, and an elevated erythrocyte sedimentation rate. The patient was referred to the cardiac catheterisation laboratory for concerns of a Wellens’ EKG pattern; however, invasive angiography demonstrated only obtuse marginal branch disease – no LAD disease was noted. Cardiac magnetic resonance (CMR) imaging confirmed the diagnosis of myopericarditis and absence of myocardial infarction. The patient was medically managed and discharged home in a stable condition. Conclusion: In literature and established clinical practice, the Wellens’ EKG pattern is considered highly concerning for critical ostial/proximal LAD stenosis. However, we now propose that myopericarditis may be considered in a differential diagnosis for this EKG pattern.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"28 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140982935","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}
Dawood Shehzad, Mustafa Shehzad, Muhammad Ahmad, Abdul Wassey, Noor Zara, Humna Younis, Haider Ali Babar Khan
Introduction: Ventricular septal defect (VSD) is a severe complication following acute myocardial infarction (MI) resulting from mechanical disruption of the interventricular septum due to extensive myocardial necrosis. Despite advances in management, the mortality rate approaches 50%. We report a case of a 58-year-old male with VSD following MI who was successfully treated with a delayed surgical approach after haemodynamic support using Impella. Case description: A 58-year-old man with type 2 diabetes mellitus and hypertension presented with three days of chest pain. Testing revealed late presenting acute anterior ischaemic infarction and left-to-right shunt in the apical ventricular septum. Urgent cardiac catheterisation showed near-total occlusion of the left anterior descending artery. An Impella CP® was placed before angioplasty with a drug-eluting stent to optimise haemodynamics. After a multidisciplinary discussion, the Impella CP® was upgraded to Impella 5.5®, and surgery was delayed allowing for scar formation. The patient remained in the intensive care unit, where he underwent physical therapy, showing improvements in exercise tolerance by the time of surgery. He underwent a left ventriculotomy with a successful repair via an endocardial patch 28 days after initial presentation. Post-operative recovery was uneventful, with the patient discharged five days later, reporting no physical limitations one month post-discharge. Conclusion: The successful management of VSD post-MI relies on interdisciplinary collaboration, careful timing of surgical intervention and the strategic use of mechanical support devices such as the Impella. This case highlights the potential for favourable outcomes when tailored treatment approaches are employed.
{"title":"Delayed closure of ventricular septal defect with prolonged mechanical support","authors":"Dawood Shehzad, Mustafa Shehzad, Muhammad Ahmad, Abdul Wassey, Noor Zara, Humna Younis, Haider Ali Babar Khan","doi":"10.12890/2024_004549","DOIUrl":"https://doi.org/10.12890/2024_004549","url":null,"abstract":"Introduction: Ventricular septal defect (VSD) is a severe complication following acute myocardial infarction (MI) resulting from mechanical disruption of the interventricular septum due to extensive myocardial necrosis. Despite advances in management, the mortality rate approaches 50%. We report a case of a 58-year-old male with VSD following MI who was successfully treated with a delayed surgical approach after haemodynamic support using Impella. Case description: A 58-year-old man with type 2 diabetes mellitus and hypertension presented with three days of chest pain. Testing revealed late presenting acute anterior ischaemic infarction and left-to-right shunt in the apical ventricular septum. Urgent cardiac catheterisation showed near-total occlusion of the left anterior descending artery. An Impella CP® was placed before angioplasty with a drug-eluting stent to optimise haemodynamics. After a multidisciplinary discussion, the Impella CP® was upgraded to Impella 5.5®, and surgery was delayed allowing for scar formation. The patient remained in the intensive care unit, where he underwent physical therapy, showing improvements in exercise tolerance by the time of surgery. He underwent a left ventriculotomy with a successful repair via an endocardial patch 28 days after initial presentation. Post-operative recovery was uneventful, with the patient discharged five days later, reporting no physical limitations one month post-discharge. Conclusion: The successful management of VSD post-MI relies on interdisciplinary collaboration, careful timing of surgical intervention and the strategic use of mechanical support devices such as the Impella. This case highlights the potential for favourable outcomes when tailored treatment approaches are employed.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"124 31","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140985179","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}
Syncope is a brief loss of consciousness caused by reduced blood flow to the brain, characterised by sudden onset, short duration and full recovery without intervention. Anamnesis, physical examination and other diagnostic tests such as laboratory analysis and electrocardiogram (ECG) can be conducted to identify the underlying cause of syncope. A Brugada pattern on an ECG in individuals with syndrome of inappropriate antidiuretic hormone secretion (SIADH) who have syncope symptoms may indicate cardiac issues. A 69-year-old man with hypertension and a history of smoking presented with syncope. His vital signs were within normal limits, with no signs of a neurological deficit. The patient met the diagnostic criteria for SIADH, as evidenced by the presence of hyponatraemia (Na 118 mmol/l), a hyperosmolar condition and euvolemia. Upon arrival, a twelve-lead ECG showed ST-segment anomalies that reflected a Brugada ECG pattern. No ventricular arrhythmias were detected during the 24-hour Holter monitoring. Coronary angiography revealed no abnormalities in the coronary arteries. The ECG demonstrated the normalisation of ST elevations and the disappearance of the Brugada ECG pattern after the correction of hyponatraemia. After three months of follow-up the patient, with a normal sodium level, had no episodes of syncope.
{"title":"Syncope and Brugada-like ECG pattern in a patient with syndrome of inappropriate antidiuretic hormone secretion (SIADH)","authors":"Muhammad Azhar Rosyidi, Valerinna Yogibuana Valerinna Yogibuana, Ardian Rizal Ardian Rizal","doi":"10.12890/2024_004510","DOIUrl":"https://doi.org/10.12890/2024_004510","url":null,"abstract":"Syncope is a brief loss of consciousness caused by reduced blood flow to the brain, characterised by sudden onset, short duration and full recovery without intervention. Anamnesis, physical examination and other diagnostic tests such as laboratory analysis and electrocardiogram (ECG) can be conducted to identify the underlying cause of syncope. A Brugada pattern on an ECG in individuals with syndrome of inappropriate antidiuretic hormone secretion (SIADH) who have syncope symptoms may indicate cardiac issues. A 69-year-old man with hypertension and a history of smoking presented with syncope. His vital signs were within normal limits, with no signs of a neurological deficit. The patient met the diagnostic criteria for SIADH, as evidenced by the presence of hyponatraemia (Na 118 mmol/l), a hyperosmolar condition and euvolemia. Upon arrival, a twelve-lead ECG showed ST-segment anomalies that reflected a Brugada ECG pattern. No ventricular arrhythmias were detected during the 24-hour Holter monitoring. Coronary angiography revealed no abnormalities in the coronary arteries. The ECG demonstrated the normalisation of ST elevations and the disappearance of the Brugada ECG pattern after the correction of hyponatraemia. After three months of follow-up the patient, with a normal sodium level, had no episodes of syncope.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"107 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140986112","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}
Wiktoria Bińczyk, Olgierd Dróżdż, Bartosz Siudek, Agnieszka Głuszczyk, Jakub Plizga, Filip Grajnert
Euglycemic diabetic ketoacidosis (euDKA) is a rare but severe metabolic complication of diabetes mellitus characterised by elevated anion gap metabolic acidosis despite normal or mildly elevated blood glucose levels. Sodium-glucose cotransporter 2 inhibitors (SGLT2i) have emerged as effective antidiabetic medications, yet their use is associated with an increased risk of euDKA, especially when coupled with insulin dose reduction. We present the case of a 50-year-old male with a 20-year history of diabetes mellitus, initially managed with insulin and metformin, who developed euDKA following the introduction of empagliflozin and sitagliptin alongside a reduction in insulin therapy. Despite normoglycaemia the patient exhibited symptoms of ketoacidosis, including chronic fatigue, polydipsia, and polyuria. Diagnostic workup revealed metabolic acidosis, elevated inflammatory markers, acute kidney injury and ketonuria. Subsequent specialised laboratory tests confirmed type 1 diabetes mellitus (T1DM) with the presence of anti-glutamic acid decarboxylase (anti-GAD) antibodies and the absence of C-peptide secretion. Management involved fluid therapy, intravenous insulin and glucose administration. This case underscores the diagnostic challenges of euDKA and emphasises the importance of differentiating between T1DM and T2DM, as management strategies vary significantly. Patient education on insulin therapy and injection techniques is crucial to prevent complications such as improper insulin delivery and dose reduction, which can precipitate euDKA. In conclusion, clinicians should be vigilant for euDKA in patients on SGLT2 inhibitors, particularly when insulin dose reduction is involved. Comprehensive patient education and accurate differentiation between diabetes types are essential for timely diagnosis and optimal management, thereby reducing the risk of severe complications.
{"title":"The significance of precise diabetes diagnosis: a case of euglycemic diabetic ketoacidosis induced by the introduction of empagliflozin with simultaneous reduction of insulin dosage","authors":"Wiktoria Bińczyk, Olgierd Dróżdż, Bartosz Siudek, Agnieszka Głuszczyk, Jakub Plizga, Filip Grajnert","doi":"10.12890/2024_004567","DOIUrl":"https://doi.org/10.12890/2024_004567","url":null,"abstract":"Euglycemic diabetic ketoacidosis (euDKA) is a rare but severe metabolic complication of diabetes mellitus characterised by elevated anion gap metabolic acidosis despite normal or mildly elevated blood glucose levels. Sodium-glucose cotransporter 2 inhibitors (SGLT2i) have emerged as effective antidiabetic medications, yet their use is associated with an increased risk of euDKA, especially when coupled with insulin dose reduction. We present the case of a 50-year-old male with a 20-year history of diabetes mellitus, initially managed with insulin and metformin, who developed euDKA following the introduction of empagliflozin and sitagliptin alongside a reduction in insulin therapy. Despite normoglycaemia the patient exhibited symptoms of ketoacidosis, including chronic fatigue, polydipsia, and polyuria. Diagnostic workup revealed metabolic acidosis, elevated inflammatory markers, acute kidney injury and ketonuria. Subsequent specialised laboratory tests confirmed type 1 diabetes mellitus (T1DM) with the presence of anti-glutamic acid decarboxylase (anti-GAD) antibodies and the absence of C-peptide secretion. Management involved fluid therapy, intravenous insulin and glucose administration. This case underscores the diagnostic challenges of euDKA and emphasises the importance of differentiating between T1DM and T2DM, as management strategies vary significantly. Patient education on insulin therapy and injection techniques is crucial to prevent complications such as improper insulin delivery and dose reduction, which can precipitate euDKA. In conclusion, clinicians should be vigilant for euDKA in patients on SGLT2 inhibitors, particularly when insulin dose reduction is involved. Comprehensive patient education and accurate differentiation between diabetes types are essential for timely diagnosis and optimal management, thereby reducing the risk of severe complications.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"97 24","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140984308","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}
Fatimaezzahra Bensalek, H. Joulal, J. Yousfi, M. Zahlane, L. Benjilali, L. Essaadouni
Background: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease, characterised by multi-organ affections. Haematological involvement is a common manifestation of SLE, consisting of autoimmune peripheral cytopenia. Autoimmune myelofibrosis (AIMF) is a rare cause of cytopenia in SLE; it could precede or be concurrent with the diagnosis of SLE. There are few studies that describe this association. Case description: We report a case of AIMF revealing the diagnosis of SLE in a 34-year-old female, presented with episodes of gingival bleeding associated with peripheral inflammatory polyarthralgia, photosensitivity and deterioration of general condition. Clinical examination revealed a soft pitting oedema in the lower limbs. Laboratory investigations showed a pancytopenia, inflammatory biological syndrome, with positive 24-hour proteinuria and anti-native DNA antibodies. A bone marrow biopsy showed diffuse myelofibrosis associated with maturation disorders and no tumour infiltrate. Renal biopsy revealed proliferative glomerulonephritis class III with immune deposits. Conclusion: The association of AIMF with SLE has been rarely reported, and it could be another cause for cytopenia in SLE.
背景：系统性红斑狼疮（SLE）是一种多系统自身免疫性疾病，以多器官受累为特征。血液受累是系统性红斑狼疮的常见表现，包括自身免疫性外周细胞减少症。自身免疫性骨髓纤维化（AIMF）是导致系统性红斑狼疮全血细胞减少症的一个罕见病因；它可能发生在系统性红斑狼疮确诊之前，也可能与系统性红斑狼疮确诊同时发生。描述这种关联的研究很少。病例描述：我们报告了一例在诊断为系统性红斑狼疮时发现 AIMF 的 34 岁女性患者的病例。该患者出现阵发性牙龈出血，伴有外周炎性多关节痛、光敏感性和全身状况恶化。临床检查发现下肢出现点状软水肿。实验室检查显示，患者患有全血细胞减少、炎症性生物综合征、24 小时蛋白尿阳性和抗本地 DNA 抗体。骨髓活检显示弥漫性骨髓纤维化伴有成熟障碍，无肿瘤浸润。肾活检显示，增生性肾小球肾炎 III 级，伴有免疫沉积。结论是AIMF 与系统性红斑狼疮的关系鲜有报道，它可能是系统性红斑狼疮细胞减少症的另一个原因。
{"title":"Autoimmune myelofibrosis revealing a systemic lupus erythematosus","authors":"Fatimaezzahra Bensalek, H. Joulal, J. Yousfi, M. Zahlane, L. Benjilali, L. Essaadouni","doi":"10.12890/2024_004511","DOIUrl":"https://doi.org/10.12890/2024_004511","url":null,"abstract":"Background: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease, characterised by multi-organ affections. Haematological involvement is a common manifestation of SLE, consisting of autoimmune peripheral cytopenia. Autoimmune myelofibrosis (AIMF) is a rare cause of cytopenia in SLE; it could precede or be concurrent with the diagnosis of SLE. There are few studies that describe this association. Case description: We report a case of AIMF revealing the diagnosis of SLE in a 34-year-old female, presented with episodes of gingival bleeding associated with peripheral inflammatory polyarthralgia, photosensitivity and deterioration of general condition. Clinical examination revealed a soft pitting oedema in the lower limbs. Laboratory investigations showed a pancytopenia, inflammatory biological syndrome, with positive 24-hour proteinuria and anti-native DNA antibodies. A bone marrow biopsy showed diffuse myelofibrosis associated with maturation disorders and no tumour infiltrate. Renal biopsy revealed proliferative glomerulonephritis class III with immune deposits. Conclusion: The association of AIMF with SLE has been rarely reported, and it could be another cause for cytopenia in SLE.","PeriodicalId":502981,"journal":{"name":"European Journal of Case Reports in Internal Medicine","volume":"37 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140983759","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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