Steenweg Marjan E, Salomons Gajja S, Yapici Zuhal, Uziel Graziella, Scalais Emmanuel, Zafeiriou Dimitrios I, Ruiz-Falco Maria L, Mejaski-Bosnjak Vlatka, Augoustides-Savvopoulou Persephone, Wajner Moacir, Walter John, Verhoeven-Duif Nanda M, Struys Eduard A, Jakobs Cornelis, van der Knaap Marjo S
Dept of Child Neurology, VU Univ Medical Ctr, De Boelelaan 1117, 1081 HV Amsterdam, the Netherlands.
Radiology. 2009 Jun;251(3):856-65. doi: 10.1148/radiol.2513080647.
To describe the pattern of magnetic resonance (MR) imaging abnormalities in l-2-hydroxyglutaric aciduria (L2HGA) and to evaluate the correlation between imaging abnormalities and disease duration.
MR images in 56 patients (30 male, 26 female; mean age +/- standard deviation, 11.9 years +/- 8.5) with genetically confirmed L2HGA were retrospectively reviewed, with institutional review board approval and waiver of informed consent. At least one complete series of transverse T2-weighted images was available for all patients. The images were evaluated by using a previously established scoring list. The correlation between MR imaging abnormalities and disease duration was assessed (Mann-Whitney or Kruskal-Wallis test).
The cerebral white matter (WM) abnormalities preferentially affected the frontal and subcortical regions. The abnormal subcortical WM often had a mildly swollen appearance (37 patients). Initially, the WM abnormalities were at least partially multifocal (32 patients). In patients with longer disease duration, the WM abnormalities became more confluent and spread centripetally, but the periventricular rim remained relatively spared (41 patients). The mean disease duration in patients with WM atrophy (14.8 years) was significantly longer (P = .001) than that in patients without atrophy (6.7 years). Bilateral involvement of the globus pallidus (55 patients), caudate nucleus (56 patients), and putamen (56 patients) was seen at all stages. The cerebellar WM was never affected. The dentate nucleus was involved bilaterally in 55 of 56 patients.
L2HGA has a distinct highly characteristic pattern of MR imaging abnormalities: a combination of predominantly subcortical cerebral WM abnormalities and abnormalities of the dentate nucleus, globus pallidus, putamen, and caudate nucleus. With increasing disease duration, WM abnormalities and basal ganglia signal intensity abnormalities become more diffuse and cerebral WM atrophy ensues.
描述1-2-羟基戊二酸尿症（L2HGA）的磁共振（MR）成像异常模式，并评估成像异常与疾病持续时间之间的相关性。
在获得机构审查委员会批准并豁免知情同意的情况下，对56例经基因确诊的L2HGA患者（30例男性，26例女性；平均年龄±标准差，11.9岁±8.5岁）的MR图像进行回顾性分析。所有患者均至少有一系列完整的横轴位T2加权图像。使用先前建立的评分表对图像进行评估。评估MR成像异常与疾病持续时间之间的相关性（Mann-Whitney或Kruskal-Wallis检验）。
脑白质（WM）异常主要累及额叶和皮质下区域。异常的皮质下WM通常有轻度肿胀外观（37例患者）。最初，WM异常至少部分为多灶性（32例患者）。在疾病持续时间较长的患者中，WM异常变得更加融合并向心性扩散，但脑室周围边缘相对未受影响（41例患者）。WM萎缩患者的平均疾病持续时间（14.8年）明显长于无萎缩患者（6.7年）（P = 0.001）。在所有阶段均可见双侧苍白球（55例患者）、尾状核（56例患者）和壳核（56例患者）受累。小脑WM从未受累。56例患者中有55例双侧齿状核受累。
L2HGA具有独特的高度特征性的MR成像异常模式：主要为皮质下脑WM异常与齿状核、苍白球、壳核和尾状核异常的组合。随着疾病持续时间的增加，WM异常和基底节信号强度异常变得更加弥漫，继而出现脑WM萎缩。
