RESUMEN
Congenital melanocytic nevus syndrome (CMNS) is a rare condition characterized by pigmented skin lesions that are usually present at birth and are associated with an increased risk of neurological abnormalities and malignant melanoma. It mostly results from a post-zygotic NRAS mutation of neural-derived crest cells, leading to uncontrolled cell growth. Because of the increased knowledge of the genetics underlying CMNS, targeted therapy becomes a promising treatment option. We present a case of CMNS in a newborn. Physical examination at birth showed a giant congenital melanocytic nevus, extending from the occipital to the lower lumbar region. A magnetic resonance imaging scan revealed multiple cerebral and cerebellar parenchymal lesions. Genetic analysis of the cutaneous lesions showed the presence of an NRAS Q61R mutation. The patient was treated with dermabrasion to reduce the color intensity of the nevus. However, this was complicated by recurrent wound infections and laborious wound healing. At the age of 1 year, the patient had an age-appropriate psychomotor development, without neurological deficits.
Asunto(s)
Nevo Pigmentado/patología , Neoplasias Cutáneas/patología , Dermabrasión/métodos , GTP Fosfohidrolasas/genética , Humanos , Recién Nacido , Masculino , Proteínas de la Membrana/genética , Mutación , Nevo Pigmentado/genética , Nevo Pigmentado/cirugía , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/cirugíaRESUMEN
Coronary embolism due to prosthetic valve thrombosis is a rare cause of acute coronary syndrome. We report the challenging case of a 66-year-old female patient with non-ST-elevation myocardial infarction caused by left main coronary artery bifurcation embolism in the setting of mechanical aortic valve thrombosis. The patient was treated with intravenous thrombolysis. Four hours later, she suffered an anterior ST-elevation myocardial infarction due to left anterior descending artery embolization. Repeat coronary angiogram showed complete disappearance of the LMCA embolus with only distal LAD occlusion. The patient was further treated medically with excellent outcome.
Asunto(s)
Embolia , Prótesis Valvulares Cardíacas , Trombosis , Anciano , Válvula Aórtica/diagnóstico por imagen , Válvula Aórtica/cirugía , Vasos Coronarios , Embolia/diagnóstico por imagen , Embolia/etiología , Embolia/terapia , Femenino , Humanos , Trombosis/diagnóstico por imagen , Trombosis/etiología , Trombosis/terapiaRESUMEN
Myxomas are common benign cardiac tumors that can cause life-threatening events. Urgent surgical excision is needed. Therefore, little is known about their growth rate. We present a peculiar case of an incidental left atrial myxoma offering calculation of a growth curve over more than 6 years. The myxoma was incidentally seen retrospectively on computed tomography scans in follow-up for bladder carcinoma in a 71-year-old patient. The patient underwent surgical resection of the myxoma. The authors emphasize that myxoma can be unnoticed on non-electrocardiogram-gated computed tomography scans. In the presented case, cardiac myxoma appears to grow linearly over time.