Thiamine deficiency in infants: MR findings in the brain.
OBJECTIVE
Thiamine deficiency is extremely rare in infants in developed countries. To our knowledge, its MR findings in the brain have not been reported. The purpose of this study was to investigate the brain MR findings in infants with encephalopathy due to thiamine deficiency.


METHODS
The study group included six infants aged 2-10 months with encephalopathy who had been fed with solely soy-based formula devoid of thiamine from birth. All underwent MR evaluation at admission and follow-up (total of 14 examinations). In one patient, MR spectroscopy (MRS) was performed.


RESULTS
In five patients T2-weighted, fluid-attenuated inversion recovery, or proton-attenuated sequences showed bilateral and symmetric hyperintensity in the periaqueductal area, basal ganglia and thalami. Five had lesions in the mammillary bodies, and three, in the brain stem. In all six patients, the frontal region (cortex and white matter) was clearly involved. At presentation, MRS of the periaqueductal area showed a lactate doublet. On long-term follow-up, three of four patients had severe frontal damage; in two, this occurred as part of diffuse parenchymal loss, and in one, it was accompanied by atrophy of the basal ganglia and thalami.


CONCLUSIONS
Thiamine deficiency in infants is characterized by involvement of the frontal lobes and basal ganglia, in addition to the lesions in the periaqueductal region, thalami, and the mammillary bodies described in adults. MRS demonstrates a characteristic lactate peak.
Kornreich
Liora
L
Department of Imaging, Schneider Children's Medical Center of Israel, Petah Tiqva.
Bron-Harlev
Efrat
E
Hoffmann
Chen
C
Schwarz
Michael
M
Konen
Osnat
O
Schoenfeld
Tommy
T
Straussberg
Rachel
R
Nahum
Elhanan
E
Ibrahim
Abu-Kishk
AK
Eshel
Gideon
G
Horev
Gadi
G
D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000175:diagnosis* / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D041943:Infant Formula; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D030262:Soybean Proteins; D013832:Thiamine Deficiency / Q000150:complications*
D030262:Soybean Proteins