蜡流样肢骨硬化合并骨斑点症的影像学诊断 (附家族三代3例报告及文献复习)

目的 探讨蜡流样肢骨硬化合并骨斑点症的影像学诊断.方法 对一家族祖孙三代4人进行X线(4例)、MR(1例)检查并作文献复习.结果 发现4例中3例患病,病变均表现双手、足、膝、骨盆、肩、长骨骨骺及骨端,松质骨内呈对称性多发的大小不等的,圆形或椭圆形致密骨斑点病变的阴影,2例发现手、足、股骨皮质蜡流样肢骨硬化.MR扫描可见长T1短T2异常信号.结论 X线、MRI蜡流样肢骨硬化合并骨斑点症在X线、MRI具有典型的特征性征象,可明确本病诊断.

Imaging Diagnosis of Melorheostosis Coexist with Osteopoikilosis: A Report of 3 Cases of the Three Generations in a Family and Literature Review

Objective To evaluate the imaging diagnosis of melorheostosis combined with osteopoikilosis.Methods Radiography wasperformed in 4 cases of the Three generations in a family,one of them underwent MR scan,and the relative literature was reviewed.Results Among 4 cases,3 cases were suffered from this disease.X-ray findings were as follows: small dense spots,round or lenticular in shape,0.3~15 cm in size were visible in the cancellous portion of both hands,feet,pelvis,epiphysis of the long bone and epiphyseal ossificationcenters.Excessive proliferation of lateral cortex of both hands,feet and femur were found in 2 cases,these imaging features showed theappearance of melten wax flowing down the side of a burning candle.MRI showed multiple long T_1 and short T_2 abnormal signal intensity inadjacent cancellus bone of right knee in 1 case.Conclusion Melorheostosis combined with osteopoikilosis has typical and characteristicimaging findings.The definite diagnosis can be made by radiography and MRI.