Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.
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.
Child Neurology and Radiology Departments, Hospital Sant Joan de Déu, Barcelona, Spain.
Mercedes
M
Serrano
Mónica
M
Rebollo
Christel
C
Depienne
Agnès
A
Rastetter
Emilio
E
Fernández-Álvarez
Jordi
J
Muchart
Loreto
L
Martorell
Rafael
R
Artuch
José A
JA
Obeso
Belén
B
Pérez-Dueñas
D000293:Adolescent; D000409:Alanine / Q000031:analogs & derivatives / Q000378:metabolism; D001479:Basal Ganglia / Q000378:metabolism / Q000473:pathology; D001480:Basal Ganglia Diseases / Q000150:complications* / Q000235:genetics*; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D020821:Dystonic Disorders / Q000209:etiology* / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D026901:Membrane Transport Proteins / Q000172:deficiency* / Q000235:genetics; D035781:Siblings
D026901:Membrane Transport Proteins; C492291:SLC19A3 protein, human; C010530:N-acetylalanine; D002794:Choline; D000409:Alanine