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. CASE DESCRIPTION: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. CONCLUSION: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.
journal_name
Hippokratiajournal_title
Hippokratiaauthors
Samoladas EP,O'Dowd J,Cardoso-Almeida A,Demetriades AKsubject
Has Abstractpub_date
2013-10-01 00:00:00pages
370-2issue
4eissn
1108-4189issn
1790-8019journal_volume
17pub_type
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