迟发性骨耇发育不良

山西大医院风湿科,疑难病例讨论2012-9-28,病史特点：, 青年男性，慢性病程，病史2年 间断右侧髋区疼痛，久坐后疼痛明显，活动后减轻 无晨僵，无夜间痛，无腰背痛、足跟痛 无双眼发红，无口腔溃疡，无银屑样皮疹 查体：腰椎前屈、后仰、侧弯均受限，双侧“4”字试验阳性，右髋关节内旋受限 骨盆正位片：双侧股骨头坏死，双髋关节炎双髋 双髋MRI：双侧髋关节间隙变窄，双侧股骨头及髋臼骨坏死,强直性脊柱炎？,诊断标准,修订的纽约标准(1984年) ： 下腰背痛的病程至少持续3个月,疼痛随 活动改善,但休息不减轻； 腰椎在前后和侧屈方向活动受限; 胸廓扩展范围小于同年龄和性别的正常值; 双侧骶髂关节炎级,或单侧骶髂关 节炎级。如果患者具备并分别附加条中的任何1条可确诊为AS,骶髂关节CT,骶髂关节CT,许莫氏结节（schmorl结节） 椎体的软骨板破裂，髓核可经裂隙突入椎体内，造成椎体内出现半圆形缺损阴影，称为许莫氏结节。如果不合并向椎体后缘突出，临床可无神经根受压体征。,胸椎正侧位片,腰椎正侧位片,诊断？,脊柱椎体骺板坏死可能迟发性脊椎骨骺发育不良遗传病,迟发性脊椎骨骺发育不良（spondyloepiphyseal dysplasia tarda,SEDT） 是一类累及脊椎椎体和骨骺的骨软骨发育不良性疾病，具有高度的遗传异质性 目前报道的有3种遗传方式：常染色体显性、常染色体隐性和X-连锁隐性遗传,家 系, ,X-连锁迟发性脊椎骨骺发育不良通常男性发病，女性只携带致病基因而表型正常男性患者病变主要累及脊椎椎体和身体承重大关节，表现为短躯干性侏儒和继发性骨关节炎,影像学表现 普遍性椎体变薄，椎间隙中后部显著狭窄，椎弓根发育正常，下胸椎和腰椎改变明显，椎体中后部上下缘成“驼峰状”隆起，前部低下，前后缘延长及椎间隙变窄，使椎体成牛奶瓶外观。,X-linked SEDT is a rare disease with an estimated prevalence of 1.7 per 1,000,000 1 1 Wynne-Davies R and Gormley J. The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care. J Bone Joint Surg Br 1985;67:133-7.,X-连锁迟发性脊椎骨骺发育不良,X-连锁迟发性脊椎骨骺发育不良, A common presenting feature of X-linked SEDT is a disproportionate (short trunk) short stature due to platyspondyly. Dysplasia of the weight-bearing joints often renders replacement of the hip joints necessary in the third decade of life. At birth, the affected males are normal in length and normal in body proportions, however they exhibit delayed linear growth beginning around 6-8 yr of age, and the usual age of presentation is after the first decade of life.,X-连锁迟发性脊椎骨骺发育不良,Diagnosis The clinical diagnosis of X-linked SEDT is usually based on clinical and radiological features. However, the skeleton is usually normal in childhood , and the characteristic radiological manifestations are usually recognizable in mid- or late adolescence. Therefore, in the absence of clear radiologic features,the diagnosis of X-linked SEDT rests on the recognition of the mode of inheritance, and molecular analysis is eventually needed for the confirmatory diagnosis of X-linked SEDT, especially in sporadic and/or atypical cases., The TRAPPC2 gene that is responsible for X-linked SEDT was identified by Gedeon et al. in 1999 . TRAPPC2 is a widely expressed and highly conserved gene localized to Xp22.,鉴别诊断 In the adult, the vertebral changes are diagnostic,but in early adolescence, radiographic findings may be confused with other diseases including mild Morquios disease, multiple epiphyseal dysplasias with vertebral changes, and adolescent kyphosis 2,Morquios disease（粘多糖病型）： 一组少见的先天性遗传疾病主要因降解粘多糖(现称糖氨聚糖)所需的溶酶体水解酶的缺陷,致使组织内有大量粘多糖蓄积，造成骨骼发育障碍、肝脾肿大、智力迟钝和尿中粘多糖类排出增多。 临床特点：明显的生长迟缓，步态异常和骨骼畸形且逐渐显著。骨骼的畸形表现为脊椎的鸟嘴突，椎骨扁平，飘带肋骨，还可有鸡胸，骨质疏松，髂骨外翻，股骨头变平，腕和膝关节肿大，但无关节强直。颜面呈颌骨突出，鼻矮，口大、牙间隙宽及牙釉质发育不良。智力发育基本正常，青春期发育可正常。逐渐出现脊髓压迫症状，晚期出现麻痹性截瘫和呼吸麻痹。病人寿命多为2030岁。,多发性骨骺发育不良(multiple epiphysial dysplasia) 又称Catel病，是一种临床上少见的骨发育不良，为常染色体显性遗传性疾病。有家族性，但其遗传变异性大，即使在同一家族中表现也不同。 临床表现：一般出生时无明显异常，2岁以后逐渐出现症状。走路较晚，步态不稳，出现膝内、外翻，关节疼痛，功能受限，脊柱侧凸。四肢短，身材矮小，形如侏儒，但面部、头颅正常，智力发育不受影响。 X线片检查：全身骨骺出现迟缓，呈斑点状、扁平或分裂，密度增加。髋臼增宽、变扁，股骨颈干角减小，呈髋内翻。股骨髁不规则，引起膝内翻。胫骨近端改变，引起胫内翻。椎体出现楔形变。桡、尺、腕、掌、跖骨等均可发生相应的骨骺变化。干骺端有代偿性改变，呈扩张或凹陷。随年龄增长，骨骺的改变逐步消失，但扁平畸形仍存在。严重者可继发退行性骨关节病。,髋关节受累 强