McCune Albright Syndrome – A Case Report and Current Management Options

McCune Albright Syndrome (MAS) is a rare, sporadic disorder caused by an activating mutation of the stimulatory G-protein alpha subunit (Gsα) gene. The disease consists of a triad of polyostotic fibrous dysplasia (PFD), café-au-lait maculae and autonomous hyperfunctional endocrinopathies such as hyperthyroidism, Cushing’s syndrome, precocious puberty, rickets/osteomalacia, excessive growth hormones, hepatic and cardiac involvements. Its estimated prevalence is between 1/100,000 and 1/1,000,000 and more commonly seen in female. The disease course is complicated by recurrent fractures resulting from PFD and the treatment is thus primarily directed at the reduction of the risk of fractures.

We are reporting a case of a 2 years old girl presented with alleged fall at home in November 2017 and sustained closed fracture of proximal third right femur. On examination, café au lait spots were noted over chest and abdomen. Blood parameters revealed hyperthyroidism and high serum alkaline phosphatase level. She was referred to paediatric team for MAS. Patient was put on hip spica and achieved fracture union after 1 month. Upon review at clinic patient was well and range of motion of right hip and knee were full. Patient was able to ambulate without aid. Unfortunately, patient presented to us again on August 2019 with alleged fall at home and sustained closed undisplaced pathological fracture distal third of left humerus. X ray left humerus showed undisplaced fracture distal third of left humerus with characteristic “ground glass” appearance. The overlying cortex was thin and expanded with radiolucent lesions within the shaft. She was treated conservatively with U slab and achieved fracture union after 2 months. Upon latest review in October 2019, patient is otherwise well, no tenderness over left humeral shaft, no neurological deficit, full range of motion over left shoulder and elbow. This case is selected for reporting due to its relatively rare incidence and we will discuss on literature review regarding this rare syndrome and highlight on its spectrum of manifestations and current management options.