Leontiasis ossea and post traumatic cervical cord contusion in polyostotic fibrous dysplasia

Leontiasis ossea (leonine facies) or cervical canal stenosis are rare complications of polyostotic fibrous dysplasia (PFD). This case report documents dramatic leontiasis ossea in PFD as well as post traumatic cervical cord contusion due to hyperextension injury in a patient with generalized PFD involving the cranio-facial bones, axial skeleton and entire spine with secondary cervical canal stenosis. Cervical cord contusion has not been reported earlier in PFD

Proximal femoral resection arthroplasty for patients with cerebral palsy and dislocated hips: 20 patients followed for 1–6 years

Background and purpose Chronic hip dislocation in non-ambulatory individuals with cerebral palsy (CP) can lead to severe problems, of which pain is often the most severe. We studied the outcome of proximal femoral resection, especially regarding pain, sitting balance, perineal care, and patient satisfaction

The nature of fibrous dysplasia

Fibrous dysplasia has been regarded as a developmental skeletal disorder characterized by replacement of normal bone with benign cellular fibrous connective tissue. It has now become evident that fibrous dysplasia is a genetic disease caused by somatic activating mutation of the Gsα subunit of G protein-coupled receptor resulting in upregulation of cAMP. This leads to defects in differentiation of osteoblasts with subsequent production of abnormal bone in an abundant fibrous stroma. In addition there is an increased production of IL-6 by mutated stromal fibrous dysplastic cells that induce osteoclastic bone resorption

Pediatric supracondylar fractures of the distal humerus

Supracondylar fractures of the humerus are a common pediatric elbow injury that are historically associated with morbidity due to malunion, neurovascular complications, and compartment syndrome. True anteroposterior and lateral radiographs are essential not only for an accurate diagnosis, but also for creating a treatment plan for these injuries. A staging system (based on the lateral radiograph) for classifying the severity of the fracture helps guide definitive management. Nondisplaced fractures are treated initially with a posterior splint, followed by a long-arm casting. Closed reduction and percutaneous pinning is the preferred treatment for displaced or unstable fractures. If there is any question about fracture stability, patients should be seen within 5 days postoperatively for repeat radiographs to ensure that the reduction and pin fixation has been maintained. Understanding the anatomy, radiographic findings, management options, and complications associated with this fracture allow physicians to limit the morbidity associated with this relatively common pediatric injury

McCune-Albright syndrome

McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common and may be progressive. In addition to PP (vaginal bleeding or spotting and development of breast tissue in girls, testicular and penile enlargement and precocious sexual behavior in boys), other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth hormone excess, Cushing syndrome, and renal phosphate wasting. Café-au-lait spots usually appear in the neonatal period, but it is most often PP or FD that brings the child to medical attention. Renal involvement is seen in approximately 50% of the patients with MAS. The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP regulating protein, Gs alpha. The extent of the disease is determined by the proliferation, migration and survival of the cell in which the mutation spontaneously occurs during embryonic development. Diagnosis of MAS is usually established on clinical grounds. Plain radiographs are often sufficient to make the diagnosis of FD and biopsy of FD lesions can confirm the diagnosis. The evaluation of patients with MAS should be guided by knowledge of the spectrum of tissues that may be involved, with specific testing for each. Genetic testing is possible, but is not routinely available. Genetic counseling, however, should be offered. Differential diagnoses include neurofibromatosis, osteofibrous dysplasia, non-ossifying fibromas, idiopathic central precocious puberty, and ovarian neoplasm. Treatment is dictated by the tissues affected, and the extent to which they are affected. Generally, some form of surgical intervention is recommended. Bisphosphonates are frequently used in the treatment of FD. Strengthening exercises are recommended to help maintaining the musculature around the FD bone and minimize the risk for fracture. Treatment of all endocrinopathies is required. Malignancies associated with MAS are distinctly rare occurrences. Malignant transformation of FD lesions occurs in probably less than 1% of the cases of MAS