家族聚集性颈椎后纵韧带骨化的影像学特征

The imaging features of family aggregative ossification of posterior longitudinal ligament of cervical spine

中文关键词:  颈椎  后纵韧带骨化  家族聚集性  影像学特征

英文关键词:Cervical spine  Ossification of posterior longitudinal ligament  Familial aggregation  Imaging features

中文摘要:

  【摘要】 目的：通过对家族性颈椎后纵韧带骨化家系成员的影像学资料分析，揭示颈椎后纵韧带骨化家族聚集性的遗传特点。方法：从2011年1月～2016年2月被诊断为“颈椎后纵韧带骨化症”的住院患者中通过询问家族史筛选出五个明显表现为家族聚集性的后纵韧带骨化家系。收集患者和其家系中每一位成员的颈椎X线或颈椎CT检查结果，观察是否有颈椎后纵韧带骨化。本研究中将影像学发现颈椎后纵韧带骨化定义为影像学阳性表现。结果：（1）五个家族共49位成员，其中17位表现为影像学阳性。总体阳性率为35%（17/49）。各个家族的阳性率介于17%~57%之间。（2）影像学阳性率男性为36%，女性为33%，无明显性别差异。（3）家族性后纵韧带骨化好发于C4～C6节段，其中以C6椎体发生率最高（21%），并向上、下方向依次递减。（4）局灶型、节段型、连续型、混合型的比例为4∶3∶3∶7，混合型所占比例较高。（5）各型对应平均年龄：局灶型38岁、节段型52岁、连续型54岁、混合型57岁，其中晚辈中阳性成员全部为局灶型。男性阳性者平均年龄49.5岁，女性阳性者平均年龄仅52.3岁。（6）40岁以上影像学阳性者C5及C6节段对应年龄值最低，而上、下两侧节段对应年龄值逐渐增加。结论：家族聚集性颈椎后纵韧带骨化的影像学阳性率较高，无明显性别差异。以混合型最为常见，并且通常以局灶型的形式率先发生于第三代成员的C5、C6椎体，之后逐渐向上下节椎体进展。男性成员后纵韧带骨化发病年龄较早或骨化长度进展速度较快。

英文摘要:

  【Abstract】 Objectives: To explore the imaging data of family ossification of the posterior longitudinal ligament(OPLL) in cervical spine and the genetic model of the family aggregation of the ossification of posterior longitudinal ligament. Methods: From January 2011 to February 2016, five pedigrees of family aggregation of the OPLL in cervical spine in the hospitalized patients were screened out, in which the proband had been diagnosed as the ossification of posterior longitudinal ligament of cervical spine by inquiring family history. Each member of the pedigrees was asked to take X-ray of cervical spine or computed tomography(CT) of cervical spine to observe the presence of OPLL or not. In this paper, the imaging findings of OPLL in cervical spine were defined as imaging positive findings. Results: (1)A total of 49 cases from five families, of which 17 were positive imagings. The overall positive rate was 35% (17/49). The positive rate of each family was between 17%-57%. (2)The imaging positive rate of male was 36% and of female was 33%, which showed no significant gender difference. (3)The cervical OPLL was found to mainly occur in the C4-C6 segment, with the highest incidence of C6(21%)，and in descending trend to the above and below. (4)The proportion of isolated type, segmental type, continuous type and mixed type was 4∶3∶3∶7. The mixed type accounted for a higher proportion. (5)The average age of each type was as following: isolated type was with 38 years old, segmental type was with 52 years old, continuous type was with 54 years old and mixed type was with 57 years old, in which all the positive members in third generation were isolated type. The average age of male was 49.5 years old; the average age of female was 52.3 years old. (6)C5 and C6 segments had the lowest average age of members over 40 years old with the ossification of posterior longitudinal ligament, and in increasing trend to the above and below. Conclusions: The imaging positive rate of cervical OPLL is higher in family members, and the imaging positive rate is not gender related. The classification of cervical OPLL is mainly mixed type. The cervical OPLL probably firstly occurs in C5 segment or C6 segment, isolated type and in the third generation members. The OPLL in male progresses rapidly.