Ohtahara syndrome with biotinidase deficiency.

Ohtahara syndrome is a rare epileptic encephalopathy in infants; the underlying etiology is generally thought to be structural brain malformations. The authors present a rare case of this type of epileptic encephalopathy in which a treatable metabolic condition such as biotinidase deficiency was suspected and diagnosed, and early institution of appropriate therapy led to a good clinical outcome.