Document Detail

Horizontal gaze palsy and scoliosis: a case report and review of the literature.
MedLine Citation:
PMID:  25031520     Owner:  NLM     Status:  PubMed-not-MEDLINE    
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.
Ep Samoladas; J O'Dowd; A Cardoso-Almeida; N Demetriades
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Hippokratia     Volume:  17     ISSN:  1108-4189     ISO Abbreviation:  Hippokratia     Publication Date:  2013 Oct 
Date Detail:
Created Date:  2014-07-17     Completed Date:  2014-07-17     Revised Date:  2014-07-31    
Medline Journal Info:
Nlm Unique ID:  101296613     Medline TA:  Hippokratia     Country:  Greece    
Other Details:
Languages:  eng     Pagination:  370-2     Citation Subset:  -    
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