McCune-Albright综合征1例报道并文献回顾

One case report of McCune-Albright syndrome and literature review

摘要:

目的 探讨McCune-Albright综合征（MAS）典型临床表现及其诊断依据。方法 回顾性分析1例基因检测为阴性McCune-Albright综合征患者的典型临床表现，并复习相关文献。结果 患儿男，8岁1个月，存在典型的骨纤维异常增生和咖啡色皮肤斑点，基因检测结果为阴性，根据临床症状诊断为McCune-Albright综合征。结论 McCune-Albright综合征的患者通常基因检测结果阳性率较低，当患者出现典型的骨纤维异常增生、咖啡色皮肤斑点和性早熟三联征中的两种时，应高度警惕出现此类疾病的可能性，并早期对症治疗。

Abstract:

Objective To investigate the typical clinical manifestations and diagnostic basis of McCune-Albright syndrome (MAS).Methods The typical clinical manifestations of a patient with negative McCune-Albright syndrome were analyzed retrospectively, and the related literature was reviewed.Results The patient was a male, 8 years and 1 month old, with typical osteofibrous dysplasia and brown skin spots. The genetic test results were negative, and the patient was diagnosed as McCune-Albright syndrome according to the clinical symptoms.Conclusion Patients with McCune-Albright syndrome usually have a low positive rate of genetic test results. When patients develop two of the typical triad of osteofibroplasia, coffee skin spots and precocious puberty, the possibility of the occurrence of such diseases should be highly vigilant and early symptomatic treatment should be given.