Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency

• Published in: Magnetic resonance imaging Vol. 17; no. 6; pp. 939 - 944
• Main Authors: Rubio-Gozalbo, M.E, Heerschap, A, Trijbels, J.M.F, Meirleir, L.De, Thijssen, H.O.M, Smeitink, J.A.M
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.07.1999; Elsevier Science
• Subjects: 1H MR spectroscopy; Alanine; Alanine - metabolism; Aspartic Acid - analogs & derivatives; Aspartic Acid - metabolism; Binding Sites; Biological and medical sciences; Brain - metabolism; Choline - metabolism; Corpus Striatum - metabolism; Creatine - metabolism; Humans; Infant; Investigative techniques, diagnostic techniques (general aspects); Lactic Acid - metabolism; Magnetic Resonance Imaging - methods; Male; Medical sciences; Mutation; Nervous system; Occipital Lobe - metabolism; Pyruvate Dehydrogenase Complex deficiency; Pyruvate Dehydrogenase Complex Deficiency Disease - genetics; Pyruvate Dehydrogenase Complex Deficiency Disease - metabolism; Radiodiagnosis. Nmr imagery. Nmr spectrometry; Thiamine; Thiamine - administration & dosage; Thiamine - metabolism; Thiamine - therapeutic use; Alanine; Pyruvate Dehydrogenase Complex deficiency; 1H MR spectroscopy; Thiamine; Human; Pyruvate kinase; Enzyme; Transferases; Deficiency; Male; NMR spectrometry; Metabolism; Cerebral disorder; Case study; Newborn; Central nervous system disease; Echo time; Brain (vertebrata)
• DOI: 10.1016/S0730-725X(99)00002-8
• ISSN: 0730-725X

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