7例儿童骨纤维发育不良_色素沉着综合征临床研究.pdfVIP

军 医 进 修 学 院 学 报 2010 Dec，31（12） ·1164· J Chinese PLA Postgrad Med Sch 7 例儿童骨纤维发育不良- 色素沉着综合征临床研究 衣京梅，龙　卉，冯　晨 解放军总医院 儿童医学中心，北京　100853 摘要：目的 探讨儿童骨纤维发育不良 - 色素沉着综合征 (McCune-Albright Syndrome，MAS) 的诊治。方法 回顾总结 7 例 MAS 儿童的临床表现、实验室及影像学资料以及治疗。结果 7 例均为女性，起病 3 个月 -5.2 岁，均以性早熟为首发症状， 均有明显色素沉着斑，其中 1 例伴有甲亢、2 例伴有轻微佝偻病。实验室检查 ：7 例雌二醇 (E2) 均明显升高，促卵泡生成 素 (FSH) 和促黄体生成素 (LH) 正常，血钙、磷正常，碱性磷酸酶升高，其 中 1 例 T 、T 升高，促甲状腺激素 (TSH) 略降低 ； 3 4 超声检查 ：7 例均显示子宫增大、卵巢增大，2 例单侧卵巢囊肿 ；影像学检查 ：5 例骨龄超过实际年龄并显示长管骨纤维发 育不良，1 例有病理性骨折线。无有效根治方法，以对症治疗为主。结论 MAS 临床虽少见，但有特征性表现，提高对该 病的认识可指导早期诊断及治疗，防止发生严重并发症，改善预后。 关键词：骨纤维发育不良 - 色素沉着综合症 ；儿童 ；诊断 ；治疗 中图分类号：R 725.8　　文献标识码：A　　文章编号：1005-1139(2010)12-1164-03 Dysplasia of bone fibers-McCune-Albright syndrome: A clinical analysis of 7 children cases YI Jing-mei, LONG Hui, FENG Chen Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, China The first author: YI Jing-mei. Email: jingmei1201@126.com Abstract: Objective To study the diagnosis and treatment of McCune-Albright syndrome(MAS). Methods Clinical manifestations, laboratory and imaging data of 7 children with McCune-Albright syndrome (MAS) were retrospectively analyzed. Results All the 7 cases who suffered from MAS at the age of 3 months-5.2 years were female. Their symptoms were characterized by sexual precocity and remarkable pigmentation. Of the 7 cases, 1 was complicated by hyperthyroidism and 2 by mild rickets. Laboratory test showed significantly elevated E2 level, normal FSH and LH level, normal blood calcium and phosphorus level, and elevated alkaline phosphatase level in all the 7 cases. Of the 7 cases, 1 had an elevated T and T level with a slightly Lower TSH level. Ultrasound