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1.
Cureus ; 16(6): e62451, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-39015872

RESUMEN

Factor V Leiden (FVL) is the major genetic risk factor to predispose venous thromboembolism (VTE). We present a rare case of a 34-year-old Caucasian female heterozygous for this mutation and taking oral contraceptive pills (OCPs) for less than four months, who presented to the emergency department with acute onset of dyspnea and was diagnosed to have an isolated massive bilateral pulmonary embolism (PE). The patient was managed for six days in the hospital and was discharged on oral anticoagulants. The risk for VTE in patients with factor V Leiden and on oral contraceptive pills increases by 30-fold in heterozygous women and 100-fold in homozygous women. The risk of VTE in factor V Leiden seems to outweigh the benefit of contraception with oral contraceptive pills. This case suggests that thrombophilia screening should be considered only in patients with a positive first-degree family history of VTE, where necessary, to prevent any future thrombotic morbidity and mortality.

2.
J Med Case Rep ; 17(1): 402, 2023 Sep 08.
Artículo en Inglés | MEDLINE | ID: mdl-37679826

RESUMEN

BACKGROUND: Myasthenia gravis is an autoimmune condition affecting the neuromuscular junction and causing muscle weakness along with fatigue (myasthenia). When the clinical manifestations of myasthenia gravis are isolated to the eye muscles, only causing weak eye movements, it is referred to as ocular myasthenia gravis, which can mimic a 1 and ½ syndrome. CASE PRESENTATION: An African-American female in her fifties with past medical history of hypertension presented to our outpatient clinic with complaints of blurred vision for two weeks. Her symptoms were associated with facial discomfort and a generalized headache. On physical examination upon her initial presentation, there was demonstratable swelling of the left upper eyelid with drooping. Her extraocular movements revealed defects with the abduction and adduction of the right eye, and the left eye would not adduct, although the outward movement was normal. The left eye failed to lift/elevate completely when looking upwards, a pseudo 1 and ½ syndrome. A positive Cogan lid twitch was also noticed. Imaging of the brain and orbit ruled out central causes. Diagnosis of ocular myasthenia gravis was made in accordance with positive anti-acetylcholine receptor antibodies. With 120 mg pyridostigmine oral dose, the patient experienced improvement subjectively and objectively, and the patient was discharged on oral pyridostigmine and prednisone. Six months later, with prednisone having been tapered off, the patient developed a myasthenic crisis and was treated with plasmapheresis and intravenous immunoglobulins. After recovering from the myasthenic crisis, efgartigimod infusions were instituted, which helped our patient restore normal life. CONCLUSION: Our patient who presented with "blurred vision" was discovered to have binocular diplopia due to significant dysconjugate eye movements. After diligently ruling out central etiologies, we concluded that her presentation was due to a peripheral etiology. Her serologies and her presentation helped confirm a diagnosis of ocular myasthenia gravis. Also, as in most cases, our patient also progressed to develop generalized myasthenia gravis while on pyridostigmine. Efgartigimod infusions instituted after our patient recovered from a myasthenic crisis have helped her restore a normal life.


Asunto(s)
Diplopía , Miastenia Gravis , Femenino , Humanos , Diplopía/etiología , Bromuro de Piridostigmina/uso terapéutico , Prednisona/uso terapéutico , Trastornos de la Visión , Miastenia Gravis/complicaciones , Miastenia Gravis/diagnóstico , Miastenia Gravis/terapia , Debilidad Muscular
3.
Cureus ; 15(7): e42339, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37621811

RESUMEN

Pheochromocytoma, a rare neuroendocrine tumor, affects less than 1 in 100,000 people per year. Individuals with pheochromocytoma usually present with headache, diaphoresis, and tachycardia; however, diaphoresis occurs in less than half of the patients. Diaphoresis or chronic persistent hyperhidrosis can significantly impact patients' lives, leading to depression, anxiety, and social isolation, as in our case. We report a patient with chronic persistent sweating for over two decades as the predominant manifestation of pheochromocytoma and sympathetic overdrive, affecting her mental and social well-being. Importantly, we would like to demonstrate the significance of long-standing sweating, which can impact an individual's mental well-being and social life. Incorporating the Hyperhidrosis Disease Severity Measure-Axillary (HDSM-Ax) in the evaluation and management might be a relevant consideration. Pertinently, if medical measures and Botulinum toxin have failed to resolve excessive sweating, a thoracoscopic sympathetic block deserves consideration. Note that diaphoresis and hyperhidrosis, terms representing excessive sweating, will be used interchangeably.

4.
BMJ Case Rep ; 16(8)2023 Aug 04.
Artículo en Inglés | MEDLINE | ID: mdl-37541696

RESUMEN

Echinococcosis is primarily a disease of developing nations with poor medical infrastructure, where cohabitation with domesticated animals is common. These conditions, in conjunction with the inherent chronicity of the disease, lead to low rates of diagnosis and high morbidity. Robust surveillance is not readily available in communities with the highest disease burden.WHO classifications assist in diagnostic and treatment endeavours especially in countries where this disease is not commonly encountered. However, the understanding of the pathophysiology of echinococcosis and optimal treatment are still lacking in certain patient populations.We present the case of a female from Central Asia with an isolated pulmonary hydatid cyst. She was diagnosed several months after she had an uncomplicated pregnancy and gave birth to a healthy baby girl. Due to a delay in surgical intervention, our patient received a prolonged course of treatment which resulted in a significant reduction in the size of the cyst. Given her improvement, we questioned the current guidelines set by the WHO regarding surgical resection of pulmonary hydatid cysts, compared with an extended course with albendazole in patients with an unusual and protracted course of the disease. Furthermore, we discuss the possible role of pregnancy in exacerbating symptoms of underlying pulmonary hydatid disease.


Asunto(s)
Equinococosis Pulmonar , Animales , Femenino , Humanos , Equinococosis Pulmonar/diagnóstico por imagen , Equinococosis Pulmonar/tratamiento farmacológico , Albendazol/uso terapéutico , Animales Domésticos
5.
BMJ Case Rep ; 15(10)2022 10 11.
Artículo en Inglés | MEDLINE | ID: mdl-36220262
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