Δημοσίευση

Horizontal gaze palsy and scoliosis: a case report and review of the literature.

ΤίτλοςHorizontal gaze palsy and scoliosis: a case report and review of the literature.
Publication TypeJournal Article
Year of Publication2013
AuthorsSamoladas, E., O'Dowd J., Cardoso-Almeida A., & Demetriades N.
JournalHippokratia
Volume17
Issue4
Pagination370-2
Date Published2013 Oct
ISSN1108-4189
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.

Alternate JournalHippokratia
PubMed ID25031520
PubMed Central IDPMC4097422

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