Trigui Moez, Ayadi Kamel, Sakka Mourad, Zribi Wassim, Frikha Faten, Gdoura Fakher, Sallemi Sami, Zribi Mohamed, Keskes Hassib
CHU Habib Bourguiba, Faculté de médecine de Sfax, Service de chirurgie orthopédique et traumatologique, 3029 Sfax, Tunisie.
Presse Med. 2011 Mar;40(3):e152-62. doi: 10.1016/j.lpm.2010.09.025. Epub 2010 Nov 11.
Von Recklinghausen's neurofibromatosis is a dominant autosomic genetic disease characterized by different clinical manifestations. The goal of this work was to study its orthopaedic manifestations and to show the characteristics of their management.
A retrospective study was carried out on 15 patients having a Von Recklinghausen's neurofibromatosis. For each patient, different orthopaedic manifestations and their evolution after treatment were analyzed. These manifestations were classified in spinal deformities, pseudarthrosis of long bones and tumours of the peripheral nerves.
The spinal deformities were observed in 9 cases. A dystrophic scoliosis was observed in 6 patients with an average angle of 50° and was associated to a kyphosis in 5 patients. The treatment was surgical by posterior arthrodesis in 2 cases and circumferential arthrodesis in 2 cases. The congenital curves and pseudarthroses of leg were observed in 5 cases, localized at the lower third of the leg in all cases. An Ilizarov external fixator with segmental osseous transport was carried out in 2 patients. The duration of the external fixator was 23 months ½ with 5 interventions in each case. Four plexiform neurofibromas and 3 nodular neurofibromas were observed. A transformation into neurofibrosarcoma was found in 2 patients. In one case, a resection without functional sacrifice was carried out and in the other case the patient was dead before the resection.
The orthopaedic manifestations of Von Recklinghausen's neurofibromatosis are frequent, varied and have a difficult management. The functional and sometimes vital prognoses are challenging.
冯雷克林霍增氏神经纤维瘤病是一种常染色体显性遗传病，具有不同的临床表现。本研究的目的是探讨其骨科表现并展示其治疗特点。
对15例冯雷克林霍增氏神经纤维瘤病患者进行回顾性研究。分析每位患者不同的骨科表现及其治疗后的演变情况。这些表现分为脊柱畸形、长骨假关节和周围神经肿瘤。
9例患者出现脊柱畸形。6例患者出现营养不良性脊柱侧凸，平均角度为50°，5例患者伴有后凸畸形。2例行后路融合术，2例行环形融合术。5例患者出现小腿先天性弯曲和假关节，均位于小腿下三分之一处。2例患者采用Ilizarov外固定架行节段性骨搬运。外固定架使用时间为23.5个月，每位患者进行了5次干预。观察到4例丛状神经纤维瘤和3例结节性神经纤维瘤。2例患者发生神经纤维肉瘤转化。1例患者进行了无功能牺牲的切除术，另1例患者在切除术前死亡。
冯雷克林霍增氏神经纤维瘤病的骨科表现常见、多样且治疗困难。功能预后，有时甚至是生命预后都具有挑战性。
