Department of Spine Surgery, Ganga Hospital, Coimbatore-641043, India.
Magn Reson Imaging. 2010 Feb;28(2):212-6. doi: 10.1016/j.mri.2009.10.004. Epub 2010 Jan 13.
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder characterized by absence of conjugate horizontal eye movements, preservation of vertical gaze and convergence, progressive scoliosis developing in childhood and adolescence. It is caused by mutations in the ROBO3 gene which are critical for the crossing of long ascending medial lemniscal and descending corticospinal tracts in the medulla. Diffusion tensor imaging on a 14-year-old boy with HGPPS revealed ipsilateral ascending and descending connectivity in the brainstem without any crossing over of the major tracts although normal interhemispheric connections in the corpus callosum was demonstrable. Absent decussation of smaller sized superior cerebellar peduncles but with normal crossing over of the middle cerebellar peduncle was also observed. Tractography is a valuable investigative modality to assess neuronal connections in the brain and is a useful adjunct to the structural magnetic resonance imaging in confirming the diagnosis of HGPPS.
水平性眼球运动不能伴进行性脊柱侧弯（HGPPS）是一种罕见疾病，其特征为水平性眼球协同运动丧失，垂直性眼球运动和会聚保留，在儿童和青少年时期出现进行性脊柱侧弯。它是由 ROBO3 基因突变引起的，ROBO3 基因突变对于延髓内长的上升内侧丘系和下降皮质脊髓束的交叉至关重要。对一名患有 HGPPS 的 14 岁男孩进行弥散张量成像显示，尽管胼胝体中有正常的大脑半球间连接，但脑干中有同侧上升和下降的连接，而主要束没有交叉。也观察到较小的上小脑脚没有交叉，但中脑脚正常交叉。轨迹成像是评估大脑神经元连接的一种有价值的研究方法，是对结构磁共振成像的有益补充，可用于确诊 HGPPS。
