Third Department of Neurology, General Hospital "G.Papanikolaou", Aristotle University of Thessaloniki, Thessaloniki, Greece.
Cardiology Department, Echocardiography Laboratory, General Hospital "G.Papanikolaou", Thessaloniki, Greece.
Int J Neurosci. 2022 Jul;132(7):649-655. doi: 10.1080/00207454.2020.1834393. Epub 2020 Nov 10.
"Carney Complex (CNC) is a familial lentiginosis syndrome, caused by 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.
The co-occurrence of emboligenic cardiac myxomas and skin lesions should be an indication for screening for CNC.
“Carney 复合征（CNC）是一种家族性的黑痣病综合征，由导致环腺苷酸依赖性蛋白激酶（PKA）信号通路异常的突变引起，易患多种皮肤肿瘤、黏液瘤和内分泌肿瘤。
方法/结果：我们描述了一个希腊家族，该家族在反复发作的栓塞性中风后被诊断为 CNC，这是由左侧心房黏液瘤引起的。文献中描述 CNC 这种表现类型的病例有限；通常，大多数病例表现为内分泌综合征。我们的病例提醒人们注意这种罕见的、诊断不足的综合征及其广泛的表型谱。随后对 CNC 作为临床表现的脑血管疾病的病例进行了文献复习。
栓塞性心脏黏液瘤和皮肤病变的同时发生应该是筛查 CNC 的指征。
