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1.
Eur J Case Rep Intern Med ; 11(5): 004298, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38715878

RESUMO

Introduction: Sarcoidosis has many possible clinical presentations since it can affect any organ, most commonly the lungs. The hallmark of the disease consists of the formation of non-necrotising granulomas. Pathogenesis is thought to rely on the interplay of genetic, environmental and epigenetic factors. This case highlights the importance of a thorough clinical history and physical examination, and the correlation with imaging findings in the diagnostic work-up of the non-ischaemic cardiomyopathy. Case description: A 57-year-old woman was admitted due to the sudden onset of malaise, dizziness, and chest discomfort. Sustained monomorphic ventricular tachycardia was evidenced and the patient rapidly evolved with haemodynamic instability; she underwent successful electrical cardioversion. The electrocardiogram afterwards showed a high-risk electrocardiographic pattern. Invasive coronary angiography excluded obstructive epicardial coronary lesions. Physical examination revealed skin lesions on the lower limbs which raised suspicion for erythema nodosum and therefore a biopsy was performed. Transthoracic echocardiography and cardiac magnetic resonance imaging revealed features consistent with an inflammatory cardiomyopathy, and an implantable cardioverter-defibrillator was placed. The histologic examination of the cutaneous lesions showed a non-necrotising granulomatous inflammatory process. Radionuclide imaging was inconclusive. The patient underwent an endomyocardial biopsy, which confirmed the diagnosis of systemic sarcoidosis with cardiac involvement. Conclusions: Systemic sarcoidosis with cardiac involvement is a challenging diagnosis. The role of imaging techniques such as transthoracic echocardiography, cardiac magnetic resonance imaging and radionuclide imaging is essential in raising suspicion and diagnosing this pathology. Endomyocardial biopsy is the 'gold standard' for its diagnosis; however, it has a low diagnostic yield. LEARNING POINTS: Systemic sarcoidosis with cardiac involvement is a challenging diagnosis as it may present in many different ways.The case presented highlights the importance of a thorough clinical history and physical examination, and the correlation with imaging findings.Imaging techniques such as transthoracic echocardiogram, cardiac magnetic resonance and radionuclide imaging are essential in raising suspicion and diagnosing cardiac sarcoidosis.

2.
Cureus ; 15(6): e40121, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37425576

RESUMO

Gestational trophoblastic neoplasia (GTN) represents a heterogeneous group of pregnancy-related tumors that usually develop from the malignant transformation of trophoblastic tissue after molar evacuation. The first presentation as an invasive mole is particularly rare. GTN is considered the most curable gynecological malignancy as most cases are treated successfully with chemotherapy agents. Although extremes of reproductive age are an established risk factor for complete moles, GTN is extremely rare in perimenopausal women. GTN should be considered in the differential diagnosis of patients with abnormal uterine bleeding. Delays in the diagnosis and treatment can worsen the prognosis of patients with GTN. Here, we describe the case of a 54-year-old woman who presented to the emergency department with abdominal pain and heavy vaginal bleeding. She reported pregnancy-related symptoms that had developed over two months but was apprehensive to search for medical care. The final diagnosis was an invasive mole that had a catastrophic clinical course. Arterial embolization should be considered in patients with uncontrollable vaginal bleeding and hemodynamic instability.

3.
Cureus ; 15(4): e37537, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37193421

RESUMO

Phyllodes tumors are uncommon biphasic breast tumors with a wide range of clinical behaviors. The distinction between a phyllodes tumor and a fibroadenoma can be difficult. The diagnosis of phyllodes tumor should be suspected in all women who present with a rapidly growing breast lump. Based on the histological characteristics, the World Health Organization (WHO) classifies phyllodes tumors as benign, borderline, or malignant. The risk of recurrence and metastatic potential varies based on histological features. Wide excision or mastectomy is the standard of care ensuring histologically clear margins. Despite the grading criteria defined by the WHO, the management of phyllodes tumors continues to be a challenge. We report the case of a 48-year-old woman who presented to the emergency department with a large and ulcerated phyllodes tumor of the left breast. The tumor size did not allow conservative surgery. The final diagnosis of a borderline phyllodes tumor was made, and, in this case, the patient did not undergo adjuvant treatment.

4.
BMJ Case Rep ; 15(12)2022 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-36593608

RESUMO

An invasive mole is an uncommon type of gestational trophoblastic disease, and if considering its implantation in an interstitial extrauterine location, we are facing a rarer condition.There are 14 cases described of interstitial ectopic gestational trophoblastic disease. As far as we know, we present the third case of invasive mole within interstitial location, in this case with pulmonary metastases.The diagnosis of an interstitial implantation is challenging. Our patient was initially diagnosed with an intrauterine hydatidiform molar pregnancy, and a uterine aspiration was performed. Two weeks later, she presented with haemodynamical instability due to a severe haemoperitoneum. A laparotomy was immediately performed and revealed a ruptured interstitial pregnancy with molar vesicle extrusion. Besides its rarity, we highlight the clinical presentation with hypovolaemic shock due to rupture of ectopic pregnancy in a young nulliparous woman, which required an emergent surgical approach with lifesaving purpose while preserving future fertility.


Assuntos
Doença Trofoblástica Gestacional , Mola Hidatiforme Invasiva , Mola Hidatiforme , Gravidez Intersticial , Neoplasias Uterinas , Gravidez , Feminino , Humanos , Mola Hidatiforme Invasiva/complicações , Mola Hidatiforme Invasiva/cirurgia , Gravidez Intersticial/cirurgia , Neoplasias Uterinas/complicações , Neoplasias Uterinas/cirurgia , Neoplasias Uterinas/diagnóstico , Mola Hidatiforme/complicações , Mola Hidatiforme/cirurgia , Mola Hidatiforme/patologia , Doença Trofoblástica Gestacional/diagnóstico
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