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

BMC Neurol. 2015 Mar 10:15:25. doi: 10.1186/s12883-015-0286-4.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain Stem / pathology*
  • Codon, Nonsense
  • Diffusion Tensor Imaging
  • Female
  • Humans
  • Middle Aged
  • Ophthalmoplegia, Chronic Progressive External / complications*
  • Ophthalmoplegia, Chronic Progressive External / genetics
  • Ophthalmoplegia, Chronic Progressive External / pathology
  • Paresis / etiology*
  • Putaminal Hemorrhage / complications*
  • Pyramidal Tracts / pathology*
  • Receptors, Cell Surface
  • Receptors, Immunologic / genetics*
  • Scoliosis / complications*
  • Scoliosis / genetics
  • Scoliosis / pathology

Substances

  • Codon, Nonsense
  • ROBO3 protein, human
  • Receptors, Cell Surface
  • Receptors, Immunologic

Supplementary concepts

  • Gaze Palsy, Familial Horizontal, with Progressive Scoliosis