7例儿童骨纤维发育不良-色素沉着综合征临床研究

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T3、T4升高,促甲状腺激素（TSH）略降低;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。

Dysplasia of bone fibers-McCune-Albright syndrome: A clinical analysis of 7 children cases

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 T3 and T4 level with a slightly Lower TSH level. Ultrasound examination showed ruterus and vary enlargement in 7 cases and unilateral oophoritic cyst in cases. Imaging demonstrated dysplasia of bone fibers in 5 cases and pathologic fracture line in 1 case, which could be symptomatically treated. Conclusion Although rarely encountered in clinical practice, MAS has its characteristic manifestations. A good knowledge about it helps its early diagnosis and treatment, prevents severe complications and improves the prognosis of such patients.