儿童神经元蜡样质脂褐素增多病的MRI诊断

MRI findings in childhood with neuronal ceroid lipofuscinosis

目的 分析不同类型神经元蜡样质脂褐素增多病 (NCL)的MRI特征和诊断价值。方法 搜集 6例经病理证实的NCL病例 ,其中 2例为婴儿型 (INCL) ,2例为晚期婴儿型 (LINCL) ,2例为青少年型 (JNCL) ;6例正常儿童作对照组。所有病例均做MR检查。结果 ( 1)脑萎缩 :2例INCL均表现为明显大脑萎缩 ,2例LINCL和 2例JNCL均表现为明显小脑萎缩 ;2例JNCL同时表现为轻度大脑萎缩。 ( 2 )脑白质T2 WI上信号改变 :6例病人中 2例INCL和 2例LINCL的半卵圆中心有稍高信号 ;2例INCL、2例LINCL和 1例JNCL的侧脑室前角有稍高信号。 ( 3 )灰质核团T2 WI上信号改变 :除 1例JNCL外 ,余 5例患儿的丘脑呈低信号 ,2例LINCL双侧壳核和苍白球呈明显低信号。对照组 6例均无异常。结论 MRI能敏感地发现NCL的早期改变 。

Objective To characterize the MR imaging findings in different types of neuronal ceroid lipofuscinosis (NCL) in childhood. Methods Six children with NCL and 6 age-matched control subjects were examined by using MRI. There was 2 patients with infantile NCL, 2 with late-infantile NCL, and 2 with juvenile NCL. Results The cerebral atrophy was found in patients with infantile NCL, but the cerebellar atrophy was found in patients with late-infantile NCL and juvenile NCL; Hyperintensity in the centrum semiovale or periventricular white matter on T 2WI was revealed in all cases; Decreased T 2 signal was seen in the thalami in five patients, except for 1 juvenile NCL; Decreased T 2 signal in the basal ganglia was seen in the 2 case with late-infantile NCL. No abnormal change was found in the control subjects. Conclusion MRI is of great value in demonstrating the early changes of NCL. MRI especially facilitates the classification and early diagnosis of NCL.