MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis

AJNR Am J Neuroradiol. 2004 Jun-Jul;25(6):1046-8.

Abstract

We present the MR imaging findings of a girl with horizontal gaze palsy and progressive scoliosis (HGPPS). HGPPS is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and accompanied by progressive scoliosis developing in childhood and adolescence. MR imaging depicted brain-stem hypoplasia with absence of the facial colliculi, presence of a deep midline pontine cleft (split pons sign), and a butterfly configuration of the medulla. These MR imaging features suggest the diagnosis of HGPPS and correlate with the clinical findings. We hypothesize that maldevelopment of dorsomedial brain-stem structures plays a crucial role in the pathogenesis of HGPPS.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain Stem / abnormalities*
  • Brain Stem / pathology*
  • Disease Progression
  • Female
  • Humans
  • Magnetic Resonance Imaging*
  • Oculomotor Nerve Diseases / complications*
  • Scoliosis / complications*