Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report

被引：16

作者：

Yamada, Shuhei ^{[1
]}

Okita, Yoshiko ^{[1
]}

Shofuda, Tomoko ^{[2
]}

Yoshioka, Ema ^{[2
]}

Nonaka, Masahiro ^{[1
]}

Mori, Kosuke ^{[1
]}

Nakajima, Shin ^{[1
]}

Kanemura, Yonehiro ^{[1
,3
]}

机构：

[1] Osaka Natl Hosp, Natl Hosp Org, Dept Neurosurg, Chuo Ku, Osaka 5400006, Japan

[2] Osaka Natl Hosp, Natl Hosp Org, Inst Clin Res, Div Stem Cell Res,Chuo Ku, Osaka 5400006, Japan

[3] Osaka Natl Hosp, Natl Hosp Org, Inst Clin Res, Div Regenerat Med,Chuo Ku, Osaka 5400006, Japan

来源：

BMC NEUROLOGY | 2015年 / 15卷

关键词：

Putaminal hemorrhage; Ipsilateral hemiparesis; Horizontal gaze palsy with progressive scoliosis; Diffusion tensor imaging; ROBO3; gene; ROBO3; MUTATIONS; MRI; TRACTS;

D O I：

10.1186/s12883-015-0286-4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background: Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder caused by mutations in the ROBO3 gene, resulting in a critical absence of crossing fibers in the brainstem. Case presentation: We present a patient with ipsilateral hemiparesis caused by putaminal hemorrhage who had a history of horizontal gaze paralysis and scoliosis since childhood. Diffusion tensor imaging (DTI) tractography confirmed the presence of uncrossed corticospinal tracts. Sequence analysis of the entire ROBO3 coding regions revealed a novel nonsense mutation. Conclusion: We report the first known HGPPS case with intracranial hemorrhage and ROBO3 mutation showing an absence of major crossing pathways by DTI.

引用

页数：4

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