Fibrocartilaginous Dysplasia of the Proximal Part of the Femur with a Pathological Fracture in a Child

Abstract

Fibrous dysplasia with massive cartilaginous differentiation (fibrocartilaginous dysplasia) manifests either as monostotic or polyostotic disease and may be associated with endocrine dysfunction and cafe-au-lait spots, which is known as McCune-Albright syndrome1. We report the case of a young girl who presented to the pediatrician with the symptom of left hip pain. Imaging revealed a lesion in the intertrochanteric region of the hip with a pathological fracture; biopsy and curettage revealed fibrocartilaginous dysplasia confirmed by GNAS gene mutation analysis. To our knowledge, this is the first reported case of fibrocartilaginous dysplasia to present with a pathological hip fracture in a child. Institutional review board approval was obtained for this case report. The patient’s legal guardian was informed that data concerning the case would be submitted for publication, and consent was provided. An eight-year-old girl presented with an eight-week history of a limp and intermittent but progressive left hip pain associated with activity but not at rest. She was administered over-the-counter analgesic medication without relief. She denied antecedent trauma, constitutional symptoms, or recent illness. She localized the pain to the left groin and greater trochanter. The past medical history was unremarkable. During physical examination, the patient’s gait was antalgic, and she allowed full active and passive range of motion with discomfort at the extremes of internal and external rotation, flexion, and extension. The neurovascular examination was normal. The skin overlying the hip did not demonstrate abnormalities; no mass, tenderness, muscle atrophy, or other external abnormality was detected. Family and past medical history were unremarkable. Anteroposterior and frog-leg lateral radiographs of the pelvis demonstrated a 7 cm × 2-cm mixed radiolucent and mineralized lesion with stippled calcifications involving the left femoral neck and peritrochanteric region; a radiolucent region was seen within the femoral epiphysis (Figs. 1-A and 1-B). A fracture involving …