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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 26:1668-1674, August 2005
© 2005 American Society of Neuroradiology

PEDIATRICS

Thiamine Deficiency in Infants: MR Findings in the Brain

Liora Kornreich^a, Efrat Bron-Harlev^b, Chen Hoffmann^d, Michael Schwarz^a, Osnat Konen^a, Tommy Schoenfeld^b, Rachel Straussberg^c, Elhanan Nahum^b, Abu-Kishk Ibrahim^e, Gideon Eshel^e and Gadi Horev^a

^a Department of Imaging, Schneider Children’s Medical Center of Israel, Petah Tiqva
^b Intensive Care Unit, Schneider Children’s Medical Center of Israel, Petah Tiqva
^c Neurology Clinic, Schneider Children’s Medical Center of Israel, Petah Tiqva
^d Department of Imaging, the Chaim Sheba Medical Center, Tel Hashomer
^e Pediatric Intensive Care Unit, Assaf Harofeh Medical Center, Zerifin, Sackler Faculty of Medicine, Tel Aviv University, Israel

Address reprint requests to L. Kornreich, MD, Imaging Department, Schneider Children’s Medical Center of Israel, Petah Tiqva 49202, Israel

BACKGROUND AND PURPOSE: 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.

CONCLUSION: 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.

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