McCune Albright Syndrome

This case report describes a 3 year old boy presenting with lateral bowing of the left leg, testicular enlargement, and café au lait spots, leading to a diagnosis of McCune Albright syndrome. Laboratory findings revealed hypophosphatemic rickets with elevated fibroblast growth factor 23 levels, while radiographs confirmed fibrous dysplasia. The syndrome, caused by a somatic GNAS mutation, was managed with oral phosphate and calcitriol, resulting in partial improvement at follow up. The article highlights the classic triad of symptoms and underscores the importance of early recognition and treatment.

This case report describes a 3 year old boy presenting with lateral bowing of the left leg, testicular enlargement, and café au lait spots, leading to a diagnosis of McCune Albright syndrome. Laboratory findings revealed hypophosphatemic rickets with elevated fibroblast growth factor 23 levels, while radiographs confirmed fibrous dysplasia. The syndrome, caused by a somatic GNAS mutation, was managed with oral phosphate and calcitriol, resulting in partial improvement at follow up. The article highlights the classic triad of symptoms and underscores the importance of early recognition and treatment.