Diagnosis:
Clinical features lone or with MRI findings or low B1 levels
+/-Response to thiamine treatment
+/-B1 Thiamine: by functional transketolase assay, thiamine chromatography or urinary thiamine
Clinical features:
Triad:
- Confusion, ataxia, ophthalmoplegia
- Not all features are necessary. Occasionally hypothermia occurs.
Findings on Investigations:
MRI features:
- Hyperintense signals in the periaqueductal gray area, dorsal medial nucleus of the thalamus and the mammilary bodies
- Hyperintensity of the mammillothalamic tracts.
Investigations to consider:
MRI
B1 Thiamine level
Treatment:
Thiamine, initially 100 mg intravenously multiple times a day, then orally