成骨不全症合并腰椎间盘突出症1例报告
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天津市天津医院

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Osteogenesis imperfecta combined with lumbar disc herniation: a case report
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Tianjin Hospital

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    摘要:

    成骨不全症(osteogenesis imperfecta,OI)又称脆性骨病,是一种由遗传或基因突变引起的结缔组织疾病,这类疾病主要表现为低能量骨折、骨量减少、牙齿发育异常、蓝巩膜、关节过度松弛、进行性耳聋、新生儿串珠、骨质疏松及颅骨闭合异常[1]。成骨不全症的本质在于I型胶原结构异常导致的骨、韧带、牙本质和巩膜形态发生变化[2]。成骨不全症患者也表现为脊柱侧弯、驼背、颅颈交界区异常(颅底凹陷症和颅底扁平症)、腰骶部病变(滑脱)[3, 4],其他合并症包括心肺功能障碍[5]、瓣膜和主动脉疾病[6]。成骨不全症合并脊柱侧弯及四肢畸形较多见,但是成骨不全症合并腰椎间盘突出症是相对少见,且在文献中很少被描述。我们报告一例成骨不全症合并腰椎间盘突出症的患者,择期局麻下行经皮内窥镜椎间盘切除术,术后2月随访,疗效满意。

    Abstract:

    Osteogenesis imperfecta (OI), also known as brittle bone disease, is a kind of connective tissue disease caused by genetic or gene mutations. It is mainly characterized by low energy fracture, bone loss, teeth dysplasia, blue sclera, excessive joint laxity, progressive deafness, newborn beads, osteoporosis and skull closed anomaly [1].The essence of OI lies in the changes of bone, ligament, dentin and sclera morphology caused by abnormal type I collagen structure [2].Patients with OI are also manifested as scoliosis, humpback, craniocervical junction abnormalities (basilar depression and basilar flat), lumbosacral lesions (spondylolisthesis) [3, 4], and other complications including cardiopulmonary dysfunction [5], valvular and aortic diseases [6].OI combined with scoliosis and limb deformity are more common, but OI combined with lumbar disc herniation is relatively rare and rarely described in the literature.We report a case of OI combined with lumbar disc herniation who underwent percutaneous endoscopic discectomy with selective local anesthesia.

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  • 收稿日期:2019-10-28
  • 最后修改日期:2019-10-28
  • 录用日期:2019-12-06
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