1. A treatable case of subacute encephalopathy
Teaching NeuroImages
Neurology
Resident and Fellow Section
© 2015 American Academy of Neurology

2. Vignette
A 21-year-old woman presented with coma after five days history of fever, gait ataxia and somnolence.
Hyperlactatemia was present; serum thiamine levels came normal.
Sechi et al.
© 2015 American Academy of Neurology

3. Imaging
Figure Legend: Initial axial brain magnetic resonance imaging findings. T2-weighted images show symmetrical high signal intensities in the bilateral paramedian thalami and caudate heads (A), and in the periaqueductal gray matter (B). Increased DWI signal and increased ADC values were seen in these brain regions. There was no gadolinium enhancement. Follow-up MRI images show near complete resolution of the lesions after 35 days of thiamine treatment (C, D) (arrows).
Sechi et al.
© 2015 American Academy of Neurology

4. Subacute encephalopathy in a young woman with THTR-2 gene mutation.
Sequencing analysis revealed thiamine transporter 2 (THTR-2) gene mutation.
In young adults THTR-2 dysfunction may foster a subacute Wernicke’s-like encephalopathy.
MRI involvement of bilateral paramedian thalami and caudate heads is highly suggestive for the disorder.
Prompt high-dose parenteral thiamine administration leads to complete recovery within few days.
References:
1. Kono S, Miyajima H, Yoshida K, Togawa A, Shirakawa K, Suzuki H. Mutations in a thiamine-transporter gene and Wernicke’s-like encephalopathy. N Engl J Med 2009; 360:
2. Tabarki B, Al-Shafi S, Al-Shahwan S, et al. Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. Neurology 2013; 80:
Sechi et al.
© 2015 American Academy of Neurology