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