Irahara Kaori, Saito Yoshiaki, Sugai Kenji, Nakagawa Eiji, Saito Takashi, Komaki Hirofumi, Nakata Yasuhiro, Sato Noriko, Baba Kazumi, Yamamoto Toshiyuki, Chan Wai-Man, Andrews Caroline, Engle Elizabeth C, Sasaki Masayuki
Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan; Department of Pediatrics, National Hospital Organization Utano Hospital, Ukyo-ku, Kyoto, Kyoto, Japan.
Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Pediatr Neurol. 2014 Apr;50(4):384-8. doi: 10.1016/j.pediatrneurol.2013.12.013. Epub 2013 Dec 17.
Horizontal gaze palsy and progressive scoliosis is caused by mutations in the ROBO3 gene, which plays a role in axonal guidance during brain development. Horizontal gaze palsy and progressive scoliosis is characterized by the congenital absence of conjugate lateral eye movements with preserved vertical gaze and progressive scoliosis as well as dysgenesis of brainstem structures and ipsilateral projection of the pyramidal tract.
A 4-year, 11-month, girl presented with psychomotor retardation and autistic traits. Magnetic resonance imaging revealed hypoplasia and malformation of the ventral portion of the pons and medulla oblongata. Diffusion tensor imaging revealed the absence of decussation of the bilateral pyramidal tracts. These findings were similar to the typical findings for horizontal gaze palsy and progressive scoliosis. However, restriction of horizontal eye movement was minimal, and bilateral polymicrogyria were also noted in the occipitotemporal cortex in the present patient. These findings have not been previously reported in patients with horizontal gaze palsy and progressive scoliosis. No mutations in the ROBO3, SLIT1, SLIT2, NTN1, SEMA3 A, or SEMA3 F genes were identified.
This child may have a disorder caused by an unidentified factor, other than a mutation in the genes analyzed, involved in corticogenesis, axonal guidance, and brainstem morphogenesis.
水平凝视麻痹和进行性脊柱侧弯由ROBO3基因突变引起，该基因在大脑发育过程中的轴突导向中起作用。水平凝视麻痹和进行性脊柱侧弯的特征为先天性缺乏共轭性眼球水平运动，垂直凝视保留，伴有进行性脊柱侧弯，以及脑干结构发育不全和锥体束同侧投射。
一名4岁11个月大的女孩，表现为精神运动发育迟缓及孤独症特征。磁共振成像显示脑桥和延髓腹侧部发育不全及畸形。弥散张量成像显示双侧锥体束无交叉。这些发现与水平凝视麻痹和进行性脊柱侧弯的典型表现相似。然而，该患者水平眼球运动受限程度轻微，枕颞叶皮质还存在双侧多小脑回。这些发现此前在水平凝视麻痹和进行性脊柱侧弯患者中未见报道。未发现ROBO3、SLIT1、SLIT2、NTN1、SEMA3A或SEMA3F基因存在突变。
该患儿可能患有由未明确因素导致的疾病，而非所分析基因的突变，该因素参与了皮质发生、轴突导向和脑干形态发生。
