Clinical features
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
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