Thiamine-Responsive Encephalopathy

Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine.

Epidemiology

Two cases have been described so far.

Clinical description

Clinical features include epilepsy, nystagmus, ophthalmoplegia and ataxia.

Etiology

The disease results from mutations in the SLC19A3 gene, encoding a thiamine transporter.

Genetic counseling

Transmission is autosomal recessive.