幼儿神经轴索营养不良MRI诊断

赵飞; 肖江喜

中国临床医学影像杂志 ›› 2015, Vol. 26 ›› Issue (4) : 229-231.

论著

幼儿神经轴索营养不良MRI诊断

赵飞1，肖江喜2

作者信息 +

MRI diagnosis of infantile neuroaxonal dystrophy

ZHAO Fei1, XIAO Jiang-xi2

Author information +

文章历史 +

摘要

目的：探讨幼儿神经轴索营养不良（Infantile neuroaxonal dystrophy，INAD）的MRI表现特征，进而提高对该病的影像学认识，为临床早期诊断提供帮助。方法：对本院诊断的13例INAD患者的MRI表现进行回顾分析，男9例，女4例，记录小脑萎缩的部位、程度，小脑皮层、白质信号改变，脑干的异常，基底节及幕上白质信号改变。总结INAD的头颅MRI表现特点。结果：①所有病例均有小脑萎缩，8例为轻度萎缩，5例为重度萎缩；②2例伴有大脑萎缩，2例伴有脑干萎缩，1例伴有胼胝体萎缩；③2例小脑皮层T2-FLAIR呈高信号；④5例幕上脑白质T2WI呈高信号；⑤1例双侧苍白球T2WI、T2-FLAIR、DWI呈低信号。结论：INAD的MRI表现有一定的特点，小脑萎缩是最主要的征象，并且呈进展性；同时可以伴有大脑及脑干的萎缩；小脑皮层T2WI信号增高；基底节铁沉积增多所致对称性T2WI信号减低；幕上白质脱髓鞘，主要表现为深部脑白质T2WI信号增高；灰质核团较少受累。

Abstract

Objective: To investigate the MRI characteristics of infantile neuroaxonal dystrophy(INAD) by retrospective summary of INAD patients in our hospital, and then deepen the understanding of imaging of this disease to help the early diagnosis. Methods: MR imagings of 13 patients with clinical diagnosis of INAD were analyzed retrospectively, and the MRI features of INAD were summarized. Results: ①Cerebellar atrophy was found in all cases, 8 cases were mild and 5 cases were severe. ②2, 2 and 1 cases were accompanied by cerebrum atropy, brainstem atrophy and corpus callosum atrophy respectively. ③T2-FLAIR high signal was showed in cerebellar cortex in 2 cases. ④T2WI high signal was manifested in supratentoria cerebrum white matter in 5 cases. ⑤T2WI, T2-FLAIR and DWI low signal was showed in bilateral globus pallidus in one case. Conclusion: The MRI imaging of INAD has certain characteristics, which plays an important role in the early diagnosis.