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Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency by M.E Rubio-Gozalbo; A Heerschap; J.M.F Trijbels; L.De Meirleir; H.O.M Thijssen; J.A.M Smeitink is a Medicine article available to read on EtoBox.

What is Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency about?

The purpose of this study was the non-invasive quantitative determination by proton MR Spectroscopy ( 1 H 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. 1 H 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 1 H MRS profile of this patient reflects the diversity of brain metabolite alterations in patients with this genetically heterogeneous disease.

Who reads Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency?

Author

M.E Rubio-Gozalbo; A Heerschap; J.M.F Trijbels; L.De Meirleir; H.O.M Thijssen; J.A.M Smeitink

Publisher

Elsevier Science; Elsevier ; Elsevier BV (ISSN 0730-725X)

Published

1999

Language

EN

Field

Medicine (Health Sciences)