Pathophysiology: Legg-Calve-Perthes disease is a childhood condition that affects the hip, where the thighbone (femur) and pelvis meet in a ball-and-socket joint. It occurs when blood supply is temporarily interrupted to the ball part (femoral head) of the hip joint. Without sufficient blood flow, the bone begins to die — so it breaks more easily and heals poorly. Signs & Symptoms: Common symptoms include hip, knee, or groin pain, exacerbated by hip/leg movement, especially internal hip rotation.
Treatment: X-Rays of the hip may suggest and/or verify the diagnosis. X-rays usually demonstrate a flattened, and later fragmented, femoral head. A bone scan or MRI may be useful in making the diagnosis in those cases where x-rays are inconclusive. Usually, plain radiographic changes are delayed 6 weeks or more from clinical onset. So bone scintography and MRI are done for early diagnosis. Treatment is done by removing mechanical pressure from the joint until the disease has run its course.
Statistics: In all, 78 LCPD patients, 86% males, 51% with severe bone disease, were studied. Family history was negative for Gaucher disease. Ethnic origin was 39% Ashkenazi Jewish, 6% Arab, and 55% other ethnicities. One Ashkenazi Jewish LCPD patient was homozygous for the 1226G mutation, and 4 LCPD patients were carriers: 3 Ashkenazi Jewish and 1 Arab patient. The frequency of the 1226G mutation among the LCPD patients was increased relative to historical Ashkenazi Jewish Israeli controls (P = 0.01).