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.
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