Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency

The purpose of this study was the non-invasive quantitative determination by proton MR Spectroscopy (H-1 MRS) of alterations in cerebral metabolism in a 19-month-old male infant with severe global developmental delay caused by a Pyruvate Dehydrogenase Complex (PDHC) deficiency due to a mutation at the thiamine binding site, Two investigations were performed at different CSF thiamine concentrations to assess the effect of thiamine supplementation. H-1 MR spectra were collected at different echo times (20-270 ms) from a voxel located in the striatum; spectroscopic imaging was done on a larger region including occipital white matter. The tissue levels of N-acetylaspartate and choline were in the normal range, while creatine appeared elevated. Abnormally high lactate and alanine signals were observed both in and outside the striatum; the levels of these metabolites were higher during the second measurement at a lower thiamine concentration. Abnormal cerebral levels of alanine have only been described once before in PDHC deficiency, The H-1 MRS profile of this patient reflects the diversity of brain metabolite alterations in patients with this genetically heterogeneous disease, (C) 1999 Elsevier Science Inc.