Polyostotic Fibrous Dysplasia in a Child with Bone Fractures and Neuropsychiatric Symptoms, Case Report

Fibrous dysplasia of the bone in children is a rare, genetic, heterogeneous disorder, associated with extra - skeletal manifestations in the McCune Albright Syndrome . It results from a post - zygotic activating mutation in the (GNAS) gene coding for (Gs alfa) protein. This leads to replacement of the lamellar bone with under - mineralized fibrous tissue, presenting clinically with limping, pain, and pathological fractures . Objective: To demonstrate the clinical course, challenges and treatment of a child with polyostotic fibrous dysplasia presenting with limping, extra skeletal manifestations, neuropsychiatric symptoms and bone fractures. Method : The clinical information and lab results were obtained directly from the mother and the computerized medical records at the treating hospitals. Genetic analysis was done at Washington University School of Medicine, USA. Informed publication consent was obtained from the parents. R esults : The child presented at the age of 3years with limping and was found to have polyostotic fibrous dysplasia and café au lait spot. Later on, he developed neurological symptoms. He had bone fractures in the proximal femur, requiring surgical intervent ion. Bone pain and frequency of fractures improved after Zoledronate injections. Blood genetic analysis of the GNAS - gene was negative. Conclusion : Polyostotic fibrous dysplasia is a rare cause of limping and recurrent pathological fractures in children. Me dical treatment with Biphosphanate injections can positively affect the clinical course of the disease. A negative blood genetic analysis of the GNAS gene does not exclude the McCune Albright Syndrome, and indicates analysis from the affected tissue. Neuro psychiatric symptoms may manifest with fibrous dysplasia without any endocrine involvement.