McCune-Albright syndrome case report

Introduction: McCune Albright syndrome (SMA) is considered a rare genetic disease, characterized by bone dysplasia, endocrine disorders and hyperpigmentary skin lesions. In SMA, postzygotic somatic mutations occur in the Gs protein gene (GNAS1) and an increase in cAMP, modifying the formation of osteoblasts and increasing bone resorption by osteoclasts, denying the hereditary nature of this disease and the possibility of rapid bone consolidation. Objective: To point out the need to deepen the knowledge of the disease for early detection and multidisciplinary care in order to avoid the consequences. Method: Retrospective observational study of the clinical history of a patient treated in the orthopedic service of the San Isidro General Hospital in Tocoa, Honduras. Results: A 13-year-old patient was admitted to the orthopedic service due to a pathological fracture of the right humerus, in which lytic lesions were observed in the humerus, radius, femur and tibia on the same side, as well as varus deformity of the right hip; café-au-lait spots on the chest and abdomen that did not respect the midline; Tanner 4 breast and pubic bone, vaginal bleeding at 3 months of age, hyperthyroidism and microprolactinoma; pathological fractures of the neck of the femur and right tibia on two occasions at 3 years of age and surgery at 6 years of age. It is interesting to note that the patient's mother had café-au-lait spots on the dorsal region. Plaster treatment of the humerus fracture was performed, achieving bone consolidation at 10 weeks. The asymmetric appearance of the spots in the patient and the rapid bone consolidation are rare clinical aspects of the syndrome. The irregular treatment of her illness and its complications generated sequelae in the patient, which limited her quality of life, highlighting the need for early detection of the disease and multidisciplinary care.