Ophthalmoplegia and bulbar palsy in variant form of maple syrup urine disease.
This is the third reported case of a neonate with ophthalmoplegia in whom the diagnosis of maple syrup urine disease (MSUD) was delayed into infancy. In this case, the demonstration of significant residual branched-chain ketoacid decarboxylase activities suggests that this atypical presentation may be characteristic of the MSUD variant form.
D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008375:Maple Syrup Urine Disease / Q000150:complications* / Q000175:diagnosis; D009886:Ophthalmoplegia / Q000150:complications* / Q000175:diagnosis