Authors: Everisto Opondo.
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a very rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and occasionally, a pathologic fracture. The disease results from somatic mutations of the GNAS gene, specifically mutations in the cyclic Adeno Mono Phosphate (c AMP) regulating protein.
In this case report a 7-year-old female known to have MAS after presenting with precoucious puberty at 3 yearsis presented. She presented with a pathological fracture of the femoral shaft after trivial trauma while playing at school.
The clinical diagnosis of MAS is usually made on clinical grounds. Plain radiographs are often sufficient to make the diagnosis of FD and biopsy of FD lesions during surgery can confirm the diagnosis. The mainstay of management of a pathological fracture in MAC is surgery with the goal being to achieve fracture healing and normal limb alignment.
View/Download pdf