The International journal of neuroscience · 2020
Carney complex syndrome manifesting as cardioembolic stroke: a case report and review of the literature.
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Chatzikonstantinou S, Kazis D, Giannakopoulou P, Poulios P, Pikou O, Geroukis T, Lyssikatos C, Stratakis C A, Bostanjopoulou S
Аннотация
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.
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.