title: Intermittent vertical supranuclear ophthalmoplegia and ataxia.
abstract: A 6-year-old girl is described with a history of episodes of severe ataxia precipitated by fever since the age of 11 months and in whom mental and physical development was otherwise normal. The ataxia was associated with a complete vertical supranuclear ophthalmoplegia and normal horizontal eye movements. After resolution of the attack she had no abnormal movement of her limbs or clinical evidence of ophthalmoplegia, though electro-oculograms showed a persistent mild deficit of vertical saccades. In between the attacks hyperglycinuria, an elevated plasma glycine level (687 mumol L(-1], and negative screening for organic aciduria suggest that she may have nonketotic hyperglycinaemia. To our knowledge, intermittent vertical supranuclear ophthalmoplegia and ataxia in a normally developing child has not been reported previously.
authors.affiliation: Midland Centre for Neurosurgery & Neurology, West Midlands, England.
authors.forename: S
authors.initials: S
authors.lastname: Nightingale
authors.forename: M E
authors.initials: ME
authors.lastname: Barton
mesh_terms: D002524:Cerebellar Ataxia / Q000097:blood / Q000209:etiology* / Q000503:physiopathology; D002648:Child; D005133:Eye Movements / Q000502:physiology; D005260:Female; D005334:Fever / Q000150:complications* / Q000503:physiopathology; D005998:Glycine / Q000097:blood*; D006801:Humans; D009886:Ophthalmoplegia / Q000097:blood / Q000209:etiology* / Q000503:physiopathology; D012027:Reflex, Vestibulo-Ocular / Q000502:physiology
chemical_list: D005998:Glycine