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[McCune-Albright syndrome: a case report and literature review]. 2023

Hédi Chabouni, and Mohamed Ben Jemaa, and Mohamed Ghorbel, and Moez Trigui, and Wassim Zribi, and Mohamed Zribi, and Kamel Ayadi, and Mourad Aoui, and Hassib Keskes
Service de Chirurgie Orthopédique et Traumatologique, Centre Hospitalier Universitaire Habib Bourguiba Sfax, Sfax, Tunisie.

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.

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