Ophthalmoplegia as a sign of metabolic disease in the newborn.
Fluctuating ophthalmoplegia in the neonatal period is unusual. We report two infants, one with branched-chain keto-aminoaciduria, the other with nonketotic hyperglycinemia, who demonstrated varying degrees of ophthalmoplegia. In one, the abnormalities of extraocular motility best correlated with elevations of serum leucine. In the other case, increased CSF glycine was implicated. Varying ophthalmoplegia during the neonatal period should alert the clinician to consider an underlying metabolic disorder.
D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D009886:Ophthalmoplegia / Q000209:etiology*