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

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...

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Autores principales: Yamada, Shuhei, Okita, Yoshiko, Shofuda, Tomoko, Yoshioka, Ema, Nonaka, Masahiro, Mori, Kosuke, Nakajima, Shin, Kanemura, Yonehiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356136/
https://www.ncbi.nlm.nih.gov/pubmed/25885466
http://dx.doi.org/10.1186/s12883-015-0286-4
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author Yamada, Shuhei
Okita, Yoshiko
Shofuda, Tomoko
Yoshioka, Ema
Nonaka, Masahiro
Mori, Kosuke
Nakajima, Shin
Kanemura, Yonehiro
author_facet Yamada, Shuhei
Okita, Yoshiko
Shofuda, Tomoko
Yoshioka, Ema
Nonaka, Masahiro
Mori, Kosuke
Nakajima, Shin
Kanemura, Yonehiro
author_sort Yamada, Shuhei
collection PubMed
description 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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spelling pubmed-43561362015-03-12 Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report Yamada, Shuhei Okita, Yoshiko Shofuda, Tomoko Yoshioka, Ema Nonaka, Masahiro Mori, Kosuke Nakajima, Shin Kanemura, Yonehiro BMC Neurol Case Report 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. BioMed Central 2015-03-10 /pmc/articles/PMC4356136/ /pubmed/25885466 http://dx.doi.org/10.1186/s12883-015-0286-4 Text en © Yamada et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Yamada, Shuhei
Okita, Yoshiko
Shofuda, Tomoko
Yoshioka, Ema
Nonaka, Masahiro
Mori, Kosuke
Nakajima, Shin
Kanemura, Yonehiro
Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report
title Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report
title_full Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report
title_fullStr Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report
title_full_unstemmed Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report
title_short Ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report
title_sort ipsilateral hemiparesis caused by putaminal hemorrhage in a patient with horizontal gaze palsy with progressive scoliosis: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356136/
https://www.ncbi.nlm.nih.gov/pubmed/25885466
http://dx.doi.org/10.1186/s12883-015-0286-4
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