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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Detalles Bibliográficos
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
Descripción
Sumario: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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