title: Horizontal gaze palsy and scoliosis: a case report and review of the literature.
abstract: BACKGROUND
  The syndrome of horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare human disease and while its association with scoliosis was first reported in 1974, thirty years later the responsible genetic mutations are being elucidated. This progress was due to the reporting of single interesting cases.
  
  
  METHODS
  We present the case of a 27 year-old male patient who was admitted for elective scoliosis correction surgery and who represented after an uncomplicated discharge with headache and vomiting; because of a gaze palsy he underwent brain imaging that confirmed a brainstem abnormality, consistent with the syndrome of horizontal gaze palsy with progressive scoliosis (HGPPS), a rare autosomal recessive human disease.
  
  
  CONCLUSIONS
  This rare syndrome is a good example of how single case reports can lead to advances in laboratory research and genetic characterisation of diseases, together with implications for neurodevelopment. Vigilance in the neurological examination in an otherwise 'non-neurological' scoliosis will help identify potential such cases, whilst further genetic/molecular analysis may shed further light into neuro-embryological development and patterning.
authors.affiliation: Department of Spine Surgery, Guy's and St. Thomas' Hospitals, London, UK.
authors.forename: E P
authors.initials: EP
authors.lastname: Samoladas
authors.affiliation: Department of Spine Surgery, Guy's and St. Thomas' Hospitals, London, UK.
authors.forename: J
authors.initials: J
authors.lastname: O'Dowd
authors.affiliation: Department of Neurosurgery, King's College Hospital, London, UK ; Guy's, King's and St. Thomas' School of Medicine, King's College London, UK.
authors.forename: A
authors.initials: A
authors.lastname: Cardoso-Almeida
authors.affiliation: Department of Neurosurgery, King's College Hospital, London, UK ; Department of Neurosurgery, Western General Hospital, Edinburgh, UK.
authors.forename: A K
authors.initials: AK
authors.lastname: Demetriades
keywords: Horizontal gaze palsy; developmental biology; neurodevelopment; patterning; scoliosis