Ogata Tsutomu, Sato Seiji, Hasegawa Yukihiro, Kosaki Kenjiro
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Setagaya, Tokyo 154-8567, Japan.
Endocr J. 2003 Jun;50(3):319-24. doi: 10.1507/endocrj.50.319.
We report on a Japanese boy with Noonan syndrome who had short stature, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of hypertrophic cardiomyopathy, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including hypertelorism, epicanthic folds, low set malrotated ears, high arched palate, micrognathia, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and nail dysplasia. Because of marked lymphedema in the bilateral lower legs, lymphatic scintigraphy was carried out at 13.3 years of age, indicating extreme lymphstasis in the lower extremities, severe lymphstasis in the forearm, the elbow, and the axillary regions, moderate lymphstasis around the ascending aorta, and mild lymphstasis in the bilateral lungs. The results, in conjunction with those suggested in Turner syndrome, imply that lymphatic hypoplasia/dysplasia and resultant distended lymphatics and lymphedema are relevant to the development of not only soft tissue and visceral anomalies but also skeletal anomalies in Noonan syndrome.
我们报告了一名患有努南综合征的日本男孩，他身材矮小、双侧隐睾、青春期发育不良、轻度智力障碍、患有包括肥厚型心肌病、二尖瓣狭窄和关闭不全、瓣膜下主动脉狭窄以及单一冠状动脉在内的复杂心脏病变，还有各种畸形特征，包括眼距增宽、内眦赘皮、低位旋转不良耳、高拱腭、小颌畸形、蹼颈、低后发际线、盾状胸、漏斗胸、肘外翻、边缘性短跖骨、淋巴水肿、多余皮肤和指甲发育异常。由于双侧小腿明显淋巴水肿，在13.3岁时进行了淋巴闪烁显像，结果显示下肢极度淋巴淤滞，前臂、肘部和腋窝区域严重淋巴淤滞，升主动脉周围中度淋巴淤滞，双侧肺部轻度淋巴淤滞。这些结果与特纳综合征中提示的结果相结合，表明淋巴发育不全/发育异常以及由此导致的淋巴管扩张和淋巴水肿不仅与努南综合征中软组织和内脏异常的发生有关，还与骨骼异常的发生有关。
