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BMC Neurology
Published in: BMC Neurology 1/2015

Open Access 01-12-2015 | Case report

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

Authors: Shuhei Yamada, Yoshiko Okita, Tomoko Shofuda, Ema Yoshioka, Masahiro Nonaka, Kosuke Mori, Shin Nakajima, Yonehiro Kanemura

Published in: BMC Neurology | Issue 1/2015

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Abstract

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.
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Metadata
Title
Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report
Authors
Shuhei Yamada
Yoshiko Okita
Tomoko Shofuda
Ema Yoshioka
Masahiro Nonaka
Kosuke Mori
Shin Nakajima
Yonehiro Kanemura
Publication date
01-12-2015
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2015
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-015-0286-4

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