Takotsubo cardiomyopathy (TC) is a rare entity defined by a temporary, reversible left ventricular systolic abnormality similar to myocardial infarction in the absence of coronary artery disease. Alcohol withdrawal syndrome (AWS) can result from a marked decrease or sudden cessation of alcohol consumption and seems to be related to excess catecholamines that induce a cardiomyotoxic effect. Wernicke's encephalopathy (WE), mostly associated with alcoholism, is caused by a deficiency in vitamin B1 (thiamine) and is severe if not supplemented in a timely manner. We present a complex case of a patient with the simultaneous presentation of two rare conditions, takotsubo cardiomyopathy, and Wernicke's encephalopathy, precipitated by an alcohol withdrawal syndrome.
Key molecular alterations found in the diagnosis and prognosis of brain tumours have been revealed by the latest advances in transcriptomic and genome-wide analysis. In-depth studies revealed that alterations of the V-Raf murine sarcoma viral oncogene homolog B (BRAF) could be shared by different brain tumour types. The identification of BRAF p.V600E mutations in gliomas is nowadays of more importance regarding the development of BRAF-targeted inhibitors.This report presents the case of a 37-year-old female with a voluminous expansive neoplastic lesion, extending from the lenticulocapsular region to the medial aspect of the temporal lobe on the left. Pathological examination revealed an astrocytic neoplasm without high-grade histological features in small biopsy fragments. The molecular study revealed the presence of a mutation in the BRAF V600E gene and CDKN2A/2B homozygous deletion. The lesion was partially removed and irradiated. The patient has been on treatment with dabrafenib plus trametinib for 10 months. In addition to reasonable tolerance, she obtained an impressive tumour reduction, which was manifested in the complete resolution of neurological deficits and in the full acquisition of autonomy.The remarkable results reported in this clinical case justify the pressing need to identify new therapeutic targets in gliomas in the current era of precision medicine.
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