Rothacker D, Kerber C
Gemeinschaftspraxis für Pathologie, Ellerried 7, 19061, Schwerin.
Pathologe. 2008 Jul;29(4):294-300. doi: 10.1007/s00292-007-0952-4.
Clinical symptoms of Carney complex occurred in two female members of one family (mother and daughter). In addition to the clinical symptoms, we describe the pathological findings in the adrenals (pigmented nodular hyperplasia of the adrenal cortex), heart (myxoma) and skin/soft tissues (superficial angiomyxomas). Genetic investigation revealed a mutation on the long arm of chromosome 17 in both patients; this mutation had previously been described only in Carney complex type 1. Unilateral adrenalectomy was performed in both these cases, 13 years ago and 7 months ago, respectively. Lifelong cardiac surveillance is mandatory to prevent death from embolism or arrhythmia.
一个家族中的两名女性成员（母亲和女儿）出现了卡尼综合征的临床症状。除了临床症状外，我们还描述了肾上腺（肾上腺皮质色素沉着性结节性增生）、心脏（黏液瘤）和皮肤/软组织（浅表血管黏液瘤）的病理发现。基因检测显示两名患者的17号染色体长臂均发生了突变；这种突变此前仅在1型卡尼综合征中被描述过。这两例患者分别于13年前和7个月前接受了单侧肾上腺切除术。必须进行终身心脏监测以预防因栓塞或心律失常导致的死亡。
