Search

In the last years, much progress has been achieved in the treatment of lysosomal storage disorders. Until recently only symptomatic treatment was available for the affected patients. Progressively enzyme replacement treatments have been developed for several diseases, namely Gaucher disease, Fabry disease, mucopolysaccharidoses type I, II and VI and Pompe disease. In this review we will summarize the efficacy and safety of these treatments and describe new therapeutic trials for other lysosomal storage disorders or perspectives in the use of currently available treatments., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Purpose of the Study: Pigmented villonodular synovitis is an exceptional condition in children. The clinical, biological and imaging presentation is not specific and a histology sample is required for certain diagnosis. Because of this lack of specificity, together with the rare occurrence of the disease, late diagnosis is not uncommon, making correct management an even greater challenge in the growing child., Material and Method: Between 1995 and 2001, six children were treated for pigmentary villonodular synovitis, four girls and two boys, mean age 11.5 years. The knee was involved in five cases (three diffuse forms and two localized forms). One diffuse form involved the ankle. The diagnosis was suggested by the MRI findings in all patients and confirmed at the histological examination of a biopsy sample. Surgery was used in five cases and medical treatment in one patient with a diffuse form affecting the knee. A synoviorthesis (Hexatrione) was used systematically in three diffuse forms affecting the knee joint., Results: Mean follow-up was 58 months. Recurrence was noted in two diffuse forms, one involving the knee at 10 months from arthroscopic synovectomy and one involving the ankle 24 months after surgical synovectomy. Systematic use of the synoviorthesis did not prevent recurrence in one case. The synoviorthesis was also used in the two cases of recurrence as a complement to surgical treatment but with no effect. Growth was not affected in any of the children., Discussion: The etiopathogenic mechanism underpinning pigmented villonodular synovitis remains unclear. Genetic factors are suspected in childhood cases. MRI is the complementary examination of choice for diagnosis and follow-up. In children, treatment of pigmented villonodular synovitis depends on marginal excision of the lesion for localized forms and total synovectomy for the diffuse forms. The efficacy of the triamcinolone hexacetonide synoviorthesis remains open to debate and would require a larger series with longer follow-up for evaluation.

Purpose of the Study: Tillaux fractures in adolescents correspond to Salter and Harris type III fractures involving the anterolateral portion of the tibial epiphysis. These are intra-articular fractures. The objective was to determine the circumstances of these fractures, the radiological signs, and the therapeutic modalities as well as the long-term clinical and radiological outcome., Material and Methods: We reviewed 19 Tillaux fractures. Ten patients underwent surgical treatment and nine orthopedic treatment following importance of displacement., Results: At mean follow-up of 33.8 months, results were rated good in 17 on 19 cases., Discussion: This fracture is often observed in teenagers victims of trauma with external rotation of the foot. Closure of distal growth cartilage of the tibia occurs medially to laterally, the anterolateral portion remaining open longer. Forced external rotation of the anterior tibiofibular ligament pulls off an anterolateral fragment of the distal tibial epiphysis. Surgical treatment is indicated for fractures with a displacement of more than 2 mm or a vertical displacement to achieve open reduction and screw fixation. Orthopedic treatment is used for non-displaced fractures., Conclusion: The prognosis of Tillaux fractures is good as was observed in our series and in series reported in the literature.

Purpose of the Study: Fracture of the anterior tibial tubercle is exceptional in adolescents. The purpose of this work was to better understand the circumstances of such fractures, identify potential complications, and assess outcome of different therapeutic options., Material and Method: This was a retrospective analysis of a consecutive series of 22 children with avulsion fracture of the anterior tibial tubercle. The circumstances of the fracture were noted. The Ogden classification was used to establish the radiological type. Associated lesions were also noted as were any complications. Two types of treatment were given: orthopedic or surgical (several types). The functional outcome was assessed at last follow-up., Results: Mean age at fracture of the anterior tibial tubercle was 13 years (range 12-16) in 14 boys and 7 girls. It occurred after a jump or reception after a jump in 22 of the children. Five patients presented symptomatic homo- or contralateral anterior tibial apophysitis before the accident. The fracture was not displaced (type IA) in ten patients and was treated orthopedically. In twelve patients, the fracture was displaced (type IB, II, or III) and required osteosynthesis. Immobilization was maintained for four weeks on average (range 3-7). Associated lesions were observed in half of the twelve displaced fractures, with five cases of patellar ligament avulsion and three cases of meniscal injury. There were no complications with type IA fractures. For the twelve displaced fractures, complications were observed in seven children: hematoma (n = 2), infrapatellar hypoesthesia (n = 2), complete rupture of the patellar ligament 38 months after surgery (n = 1), recurvatum with leg length discrepancy (n = 1), and stiff knee (n = 1). Mean follow-up was two years (range 9 months-8 years). The functional outcome was excellent in all patients with a non-displaced fracture and in seven of the twelve patients who underwent surgical treatment., Discussion: Non-displaced fracture of the anterior tibial tubercle I children (type IA) should be considered as a separate entity responding very well to orthopedic treatment. The other cases of displaced fracture generally require surgery which enables an assessment of often associated lesions. The prognosis of displaced fractures of the anterior tibial tubercle is more sever due to the associated lesions and potential complications. We describe the second case of recurvatum and leg length discrepancy following fracture of the anterior tibial tubercle., Conclusion: Displaced fracture of the anterior tibial tubercle in adolescents is often associated with soft tissue injury (patellar ligament, menisci). Surgery is indispensable and provides good functional results.

Purpose of the Study: Aneurysmal cyst is an uncommon benign primitive bone tumor generally observed in young subjects, in a spinal localization in 10% of the cases. We report the clinical, radiological, and therapeutic aspects of seven cases of aneurysmal cyst of the spine., Material and Methods: This series included seven children, mean age 11.7 years (range 8-14) who were followed for 9 years on the average (range 2-24 years). Findings were compared with reports in the literature., Results: Four cysts were located in the cervical spine (C1, C3, C4, C7), two in the thoracic spine (T4, T7) and one in the sacrum. Biopsy-resection was performed in six patients. The sacral cyst was treated by selective arterial embolization. Two complications were observed after surgical treatment. Bony filling of the lesion, evaluated by CT scan six months after surgery, was achieved in five cases, incomplete in two without recurrence of cystic cavities., Discussion and Conclusion: Aneurysmal bone cysts account for 15% of all primitive tumors of the spine. They are more frequent in the cervical and thoracic spine than in a lumbar or sacral localization. One vertebra is involved in most cases, generally the vertebral body and the posterior arch with an asymmetrical extension to one pedicle in some cases. Neurological complications of variable severity are frequent and can be improved by surgical removal of the tumor. CT scan and MRI are the best exams to analyze the spinal cyst, to show bony walls and liquid-liquid levels suggestive of aneurysmal bone cyst, to evaluate the tumor extension and to search for cord compression. When the CT scan and MRI show characteristic signs of aneurysmal bone cyst of the spine, we do not perform a biopsy systematically if complete removal of the tumor appears possible. Surgical removal with biopsy is the treatment of choice. Reconstruction and stabilization of the spine must be complete using bone graft with or without instrumentation. In case of medullary involvement, decompression must be performed rapidly with the most complete tumor removal as possible. Selective arterial embolization can be used in some localizations or as preparation to surgery. Radiotherapy is contraindicated in children because of the risk of radio-induced tumors.