Shirinpour Zivar, Farhangiyan Zahra, Akiash Nehzat, Rashidi Homeira
Assistant Professor, Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Assistant Professor, Atherosclerosis Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
ARYA Atheroscler. 2020 May;16(3):146-150. doi: 10.22122/arya.v16i3.2080.
Carney complex (CNC) is an uncommon multisystem endocrine disorder with significant variability of clinical manifestations including mucocutaneous involvement (pigmented lesions, myxomas, blue nevi, etc.), endocrine tumors (adrenal, pituitary, thyroid glands, or testicles), and non-endocrine tumors [cardiac myxomas, psammomatous melanotic schwannomas (PMS), breast myxomas as well as ductal adenomas, and osteochondromyxomas]. To our knowledge, this is the second report of CNC in Iran, presenting with typical manifestations.
A 29-year-old man was referred to our clinic to evaluate the likelihood of CNC because of recurrent cardiac myxomas. He sometimes suffered from self-limited episodes of non-exertional palpitation, dyspnea, weakness, and pallor. He had some features of acromegaly (such as increase in acral size and frontal bossing). The laboratory tests revealed a high insulin-like growth factor 1 (IGF1) level, with no growth hormone (GH) suppression after oral glucose tolerance test (OGTT). Pituitary magnetic resonance imaging (MRI) showed a microadenoma (5.79 × 2.80 mm) of the pituitary gland; then, he was diagnosed with CNC, having the following major criteria: recurrent cardiac myxomas, skin myxomas, and acromegaly due to GH pituitary microadenoma, as well as minor criteria: multiple cafe´-au-lait (CAL) spots, several skin tags and moles, and thyroid nodules. In this patient, laboratory tests for Cushing's syndrome were equivocal, whereas pheochromocytoma was proven biochemically but unexpectedly pathology did not confirm it. Rather, the pathology of the right adrenocortical specimen revealed nodular hyperplasia.
For patients with recurrent cardiac myxoma, especially with skin myxoma, the diagnosis of CNC should be considered and the search for other associations should be done even in an asymptomatic patient.
卡尼综合征（CNC）是一种罕见的多系统内分泌疾病，临床表现差异很大，包括皮肤黏膜受累（色素沉着性病变、黏液瘤、蓝痣等）、内分泌肿瘤（肾上腺、垂体、甲状腺或睾丸）以及非内分泌肿瘤[心脏黏液瘤、砂粒样黑色素性神经鞘瘤（PMS）、乳腺黏液瘤以及导管腺瘤和骨软骨黏液瘤]。据我们所知，这是伊朗第二例呈现典型表现的CNC报告。
一名29岁男性因复发性心脏黏液瘤被转诊至我们的诊所，以评估其患CNC的可能性。他有时会出现非劳力性心悸、呼吸困难、虚弱和面色苍白的自限性发作。他有一些肢端肥大症的特征（如手足增大和前额突出）。实验室检查显示胰岛素样生长因子1（IGF1）水平升高，口服葡萄糖耐量试验（OGTT）后生长激素（GH）未被抑制。垂体磁共振成像（MRI）显示垂体有一个微腺瘤（5.79×2.80mm）；随后，他被诊断为CNC，具有以下主要标准：复发性心脏黏液瘤、皮肤黏液瘤以及因GH垂体微腺瘤导致的肢端肥大症，以及次要标准：多个咖啡牛奶斑（CAL）、几个皮赘和痣，以及甲状腺结节。在该患者中，库欣综合征的实验室检查结果不明确，而嗜铬细胞瘤经生化检查证实，但病理检查未予证实。相反，右侧肾上腺皮质标本的病理显示为结节性增生。
对于复发性心脏黏液瘤患者，尤其是伴有皮肤黏液瘤的患者，即使是无症状患者，也应考虑CNC的诊断，并寻找其他相关表现。
