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.