Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

Abstract

BACKGROUND:

Thiamine transporter-2 deficiency, a condition resulting from mutations in the SLC19A3 gene, has been described in patients with subacute dystonia and striatal necrosis. The condition responds extremely well to treatment with biotin and has thus been named biotin-responsive basal ganglia disease. Recently, this deficiency has also been related to Wernicke's-like encephalopathy and atypical infantile spasms, showing heterogeneous responses to biotin and/or thiamine.

METHODS:

Two Spanish siblings with a biotin-responsive basal ganglia disease phenotype and mutations in SLC19A3 presented with acute episodes of generalized dystonia, rigidity, and symmetrical lesions involving the striatum, midline nuclei of the thalami, and the cortex of cerebral hemispheres as shown by magnetic resonance imaging.

RESULTS:

The clinical features resolved rapidly after thiamine administration.

CONCLUSIONS:

Despite the rarity of thiamine transporter-2 deficiency, it should be suspected in patients with acute dystonia and basal ganglia injury, as thiamine can halt disease evolution and prevent further episodes. © 2012 Movement Disorder Society.

• Authors: Mercedes Serrano, Mónica Rebollo, Christel Depienne, Agnès Rastetter, Emilio Fernández-Álvarez, Jordi Muchart, Loreto Martorell, Rafael Artuch, José A Obeso, Belén Pérez-Dueñas
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 27 Issue 10 Pg. 1295-8 (Sep 01 2012) ISSN: 1531-8257 [Electronic] United States
• PMID: 22777947 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2012 Movement Disorder Society.

Chemical References

• Membrane Transport Proteins
• SLC19A3 protein, human
• N-acetylalanine
• Choline
• Alanine

Topics

• Adolescent
• Alanine (analogs & derivatives, metabolism)
• Basal Ganglia (metabolism, pathology)
• Basal Ganglia Diseases (complications, genetics)
• Child, Preschool
• Choline (metabolism)
• Dystonic Disorders (etiology, genetics)
• Female
• Humans
• Magnetic Resonance Imaging
• Magnetic Resonance Spectroscopy
• Male
• Membrane Transport Proteins (deficiency, genetics)
• Siblings