New pattern of brain MRI lesions in isolated complex I deficiency

Nicole I. Wolf*, A. Seitz, I. Harting, J. A.M. Smeitink, F. Trijbels, L. P. Van den Heuvel, H. Schlemmer, F. Ebinger, W. Evert, D. Rating

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


We describe a boy presenting at the end of the first year of life with severely delayed motor development and only mild mental retardation. Neurological examination revealed axial hypotonia, mild ataxia and pyramidal signs. Elevated lactate and protein in cerebrospinal fluid were the most prominent laboratory abnormalities. Brain MRI showed severe supratentorial white matter changes. Cerebellar white matter appeared normal whereas the signal of the atrophic cerebellar cortex was markedly increased. In vivo 1H-magnetic resonance spectroscopy of the parietooccipital white matter region showed a distinct resonance of lactate. By means of biochemical analysis of respiratory chain enzymes in fibroblasts, the diagnosis of an isolated complex I deficiency could be established in our patient.

Original languageEnglish
Pages (from-to)156-159
Number of pages4
Issue number3
Publication statusPublished - Jun 2003

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