肝豆状核变性的影像学表现及成像相关因素探讨

目的 研究肝豆状核变性（HLD）的CT、MR和B超表现,探讨影响影像表现的相关因素。方法 54例HLD患者中,男35例,女9例,年龄3－40岁。作CT检查29例,MR检查11例,其中两者同时检查者5例。B超检查26例。结果 （1）脑部MRI呈长T1、长T2信号9例,稍短T1、短T2信号2例。病灶位于壳核11例,尾状核8例,丘脑5例,苍白球2例,红核2例,黑质3例,大脑脚网状结构1例,脑桥桥核2例,额叶白质1例。典型者依受累部位不同,分别表现为“啄木鸟”、“八字”、“展翅蝴蝶”样改变等。（2）脑部CT检查25例中,阳性18例（72％）,阴性7例（28％）。主要表现为双侧基底节区对称性低密度影。（3）肝脏B超26例均示慢性肝病声像学改变,伴肝硬化12例,脾肿大11例,腹水9例,胆囊水肿8例,双边影5例,胆囊结石3例。结论 （1）MRI T2信号和CT密度改变与临床表现往往不相平行。T1信号可用于随访比较,但不易定量。（2）HLD几乎都有肝损害,肝损害先天脑损害;早期肝损害呈可逆性,脑损害呈对称性;中期肝损害呈静止性;后期脑损害呈萎缩性。（3）提出影响CT、MR图像表现的4对矛盾因素：代谢性全身性疾病与基因选择性亲和性;铜沉积与细胞损伤;内源性自主排铜与组织细胞修复;外源性驱铜治疗与组织细胞修复。

Imagiologic features and the relative imaging factors in hepatolenticular degeneration

Objective To study the CT, MR and ultrasound features of hepatolenticular degeneration(HLD),and investigate relative factors affecting the imaging manifestations. Methods Fifty-four HLD were reported in this paper, and the 35 male and 19 female patients ranged in the age from 3 to 40 years. CT was performed in 29 patients, MR in 11, both CT and MR in 5, ultrasound in 26. Six cases were hospitalized for 3 times, and 9 for twice. Results (1) The putamen was affected on MR in all cases(100%), the caudate nucleus in 8,The thalami in 5, the globus pallidus in 2, the red nucleus in 2, the substantis nigra in 3, the midbrain in 1, the pons in 2, the white matter of frontal lobi in 1. According to the different basal ganglia involved in brain, resembling "woodpecker" or "butterfly spreading the wing" in appearance were showed on the MR images respectively. (2) Positive signs were found by CT scans in 18 cases(72%), but negative in 7 cases (28%). It is important manifestation that low density in brain occurred bilaterally and symmetrically. (3) The sonographic changes of chronic liver disease were showed on US in all 26 cases. Among the number, 12 cases were regarded as cirrhosis at the same time. Conclusion (1) T 2 signal intensity and CT density changes are often not parallel to the clinical symptoms. T 1WI is suitable for the follow-up, but quantitative analysis is still difficult. (2) Damage of liver occurs almost in all HLD, and earlier than that of brain. On the early stage, the liver damage is reversible, the brain lesions are symmetric. Moderately, the liver damage changes static. Lately, the brain presents atrophic. (3) The investigation suggests that there are 4 factors affecting CT and MR imaging features: the systemic disease resulting from metabolic disorder and the selected affinity caused by gene defect, deposition of copper together with cellular damage, endogenous and autonomous discharge of copper and histocyte repaired, and extrogenously expelled copper therapy with tissues and cells repaired.