Intermittent vertical supranuclear ophthalmoplegia and ataxia.
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.
Nightingale
S
S
Midland Centre for Neurosurgery & Neurology, West Midlands, England.
Barton
M E
ME
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
D005998:Glycine