Carney complex syndrome manifesting as cardioembolic stroke: a case report and review of the literature.

Autor:	Chatzikonstantinou, S., Kazis, D., Giannakopoulou, P., Poulios, P., Pikou, O., Geroukis, T., Lyssikatos, C., Stratakis, C. A, Bostanjopoulou, S.
Předmět:	CYCLIC-AMP-dependent protein kinase COMPLEX regional pain syndromes CEREBROVASCULAR disease LITERATURE reviews SKIN tumors SYNDROMES
Zdroj:	International Journal of Neuroscience; Jul2022, Vol. 132 Issue 7, p649-655, 7p
Abstrakt:	"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. 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. The co-occurrence of emboligenic cardiac myxomas and skin lesions should be an indication for screening for CNC. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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