麦库恩-奥尔布赖特综合征
纤维发育不良
医学
多骨性纤维发育不良
莱特咖啡厅
病态的
女孩
性早熟
病理
激素
内分泌学
遗传学
生物
神经纤维瘤病
作者
Hédi Chabouni,Mohamed Ben Jemaa,Mohamed Ghorbel,Mœz Trigui,Wassim Zribi,M. Zribi,Kafia Ayadi,Mourad Aoui,Hassib Keskes
出处
期刊:PubMed
日期:2023-01-01
卷期号:46: 33-33
标识
DOI:10.11604/pamj.2023.46.33.35274
摘要
McCune-Albright syndrome is an inherited disease characterized by the association of fibrous dystrophy of bone, café-au-lait skin spots and precocious puberty revealing endocrine hyperactivity. Genetically, this disease is due to a mutation of the Gs protein responsible for activation of adenylate cyclase with excessive production of cAMP. The particular morphology of café-au-lait spots should suggest early diagnosis. Its treatment depends on the endocrinopathy from which the patient suffers and the extent of the fibrous dysplasia. Bisphosphonates have proven their effectiveness on bone pain and the limitation of fibrous dysplasia. Surgery retains its place in complicated forms. We report a rare case of McCune-Albright syndrome complicated by a femur fracture in a 12-year-old girl and we discuss the clinical and paraclinical characteristics of this pathological entity.
科研通智能强力驱动
Strongly Powered by AbleSci AI