Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Department of Radiology, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Endocr J. 2019 Dec 25;66(12):1117-1123. doi: 10.1507/endocrj.EJ19-0183. Epub 2019 Sep 4.
A 14-year-old girl was referred to our department because of headache and visual impairment following the resection of recurrent cardiac myxoma. Head magnetic resonance imaging (MRI) scan detected an intra- and supra-sellar tumor. Moreover, the patient showed the presence of spotty skin pigmentations on her cheeks and lower lip. Blood examination revealed hypothyrotropinemia, and ultrasonography results revealed multiple thyroid nodules. She was diagnosed with Carney complex (CNC). Her pituitary tumor was suspected as growth hormone (GH)-secreting adenoma, because overgrowth was observed in the patient. However, biochemical examinations, including oral glucose tolerance test, failed to show the characteristic findings of GH-secreting adenoma. In contrast, insulin tolerance test showed GH deficiency. Her visual impairment improved without performing decompression surgery, and the tumor size decreased, as per the MRI findings. Based on clinical course, the patient was diagnosed with pituitary apoplexy in pituitary adenoma, following which she was discharged. At 3 months after discharge, thyrotropin-releasing hormone loading test performed revealed low thyrotropin-stimulating hormone and thyroid hormone levels, and the patient was in a depressed mood. Therefore, l-T4 replacement was initiated, following which her GH secretory capacity gradually improved. Here, we report, to the best of our knowledge, the first case of a patient with pituitary apoplexy in CNC. Such condition must be identified in young patients with recurrent cardiac myxoma, and examinations, such as head MRI, must be performed.
一位 14 岁女孩因心脏粘液瘤切除术后出现头痛和视力障碍，被转至我院就诊。头部磁共振成像（MRI）扫描发现鞍内和鞍上肿瘤。此外，患者脸颊和下唇有斑点状皮肤色素沉着。血液检查显示促甲状腺素水平降低，超声检查显示多个甲状腺结节。患者被诊断为卡尼综合征（CNC）。她的垂体瘤被怀疑是生长激素（GH）分泌腺瘤，因为患者出现了过度生长。然而，包括口服葡萄糖耐量试验在内的生化检查未能显示 GH 分泌腺瘤的特征性发现。相反，胰岛素耐量试验显示 GH 缺乏。她的视力障碍在未进行减压手术的情况下得到改善，并且根据 MRI 检查结果，肿瘤大小也有所缩小。根据临床病程，该患者被诊断为垂体腺瘤垂体卒中，随后出院。出院后 3 个月，进行促甲状腺素释放激素负荷试验显示促甲状腺素刺激激素和甲状腺激素水平降低，患者情绪低落。因此，开始给予左甲状腺素替代治疗，随后她的 GH 分泌能力逐渐改善。在此，我们报告了首例 CNC 患者垂体卒中的病例。这种情况必须在患有复发性心脏粘液瘤的年轻患者中识别出来，必须进行头部 MRI 等检查。
