Diagnosis:
Clinical features, laboratory testing and MRI
Clinical features:
Ophthalmoplegia, nystagmus, ataxia, diplopia and ptosis
Complex partial seizures with status epilepticus.
Thiamine-responsive
Genetics:
Thiamine-Transporter Gene
Findings on Investigations:
MRI:
- High-intensity signals in the bilateral medial thalamus
Laboratory:
- Thiamine levels: normal
Treatment:
Thiamine