clinical features

Last reviewed 01/2018

Acute features, noted from day 3 to day ten include:

  • lethargy
  • poor feeding
  • hypotonia,
  • opisthotonus
  • convulsions
  • high pitched cry, with or without fever

Intermediate features include:

  • hypotonia
  • developmental delay

Long term features, noted at 18 months, include:

  • athetoid cerebral palsy
  • high frequency hearing loss
  • impaired vertical gaze
  • mental retardation, which may be mild or absent
  • dental dysplasia