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1.
Cureus ; 14(4): e24584, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35664384

RESUMO

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with diverse clinical presentations. Pathogenic variants in the genes encoding different subunits of the succinate dehydrogenase enzyme complex that plays a central role in energy metabolism have been linked to hereditary PPGL syndromes. Here we report a rare case of hereditary pheochromocytoma with a novel mutation in the succinate dehydrogenase subunit A (SDHA) gene.  A middle-aged woman presented with left-sided abdominal pain and was incidentally found to have bilateral adrenal lesions on abdominal imaging. Imaging characteristics were suggestive of pheochromocytoma. She denied any symptoms of catecholamine excess but her plasma metanephrines level was elevated. Iodine-131 metaiodobenzylguanidine (131I-MIBG) whole-body scan showed abnormal focal radiotracer uptake at the left adrenal gland, and she then underwent left-sided adrenalectomy. Following surgery, the patient had symptomatic relief and histopathology confirmed the diagnosis of pheochromocytoma. Genetic testing revealed that she was positive for a pathogenic mutation in the SDHA gene consistent with the diagnosis of hereditary PPGL syndrome.  The detection of susceptibility genes for hereditary PPGL syndromes has key implications, for surveillance to detect extra-adrenal disease and recurrent tumors, as well as for consideration of genetic testing for family members.

2.
Cureus ; 13(5): e15051, 2021 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-34141501

RESUMO

Coronavirus disease 2019 (COVID-19), which initially emerged in Wuhan, China, has rapidly swept around the world, causing grave morbidity and mortality. It manifests with several symptoms, on a spectrum from asymptomatic to severe illness and death. Many typical imaging features of this disease are described, such as bilateral multi-lobar ground-glass opacities (GGO) or consolidations with a predominantly peripheral distribution. COVID-19-associated bronchiectasis is an atypical finding, and it is not a commonly described sequel of the disease. Here, we present a previously healthy middle-aged man who developed progressive bronchiectasis evident on serial chest CT scans with superimposed bacterial infection following COVID-19 pneumonia. The patient's complicated hospital course of superimposed bacterial infection in the setting of presumed bronchiectasis secondary to COVID-19 is alleged to have contributed to his prolonged hospital stay, with difficulty in weaning off mechanical ventilation. Clinicians should have high suspicion and awareness of such a debilitating complication, as further follow-up and management might be warranted.

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