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Int J Neurosci ; 132(7): 649-655, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33027596

RESUMEN

BACKGROUND: "Carney Complex (CNC) is a familial lentiginosis syndrome, caused by PRKAR1A mutations that lead to cyclic AMP-dependent protein kinase (PKA) signaling pathway abnormalities, predisposing to a variety of skin tumors, myxomas and endocrine tumors. METHODS/RESULTS: We describe a Greek family diagnosed with CNC after recurrent embolic strokes, secondary to left-sided atrial myxomas. There are limited cases in the literature describing this type of presentation for CNC; typically, most cases present with an endocrine syndrome. Our case serves as a reminder of this rare, underdiagnosed syndrome and its wide phenotypic spectrum. It is followed by a review of the current literature on cases with cerebrovascular disease as a manifestation of CNC. CONCLUSION: The co-occurrence of emboligenic cardiac myxomas and skin lesions should be an indication for screening for CNC.


Asunto(s)
Complejo de Carney , Accidente Cerebrovascular Embólico , Neoplasias Cardíacas , Mixoma , Complejo de Carney/complicaciones , Complejo de Carney/diagnóstico , Complejo de Carney/genética , Subunidad RIalfa de la Proteína Quinasa Dependiente de AMP Cíclico/genética , Neoplasias Cardíacas/complicaciones , Neoplasias Cardíacas/diagnóstico por imagen , Humanos , Mixoma/complicaciones , Mixoma/diagnóstico , Síndrome
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