Neuropediatrics 2003; 34(3): 156-159
DOI: 10.1055/s-2003-41277
Short Communication

Georg Thieme Verlag Stuttgart · New York

New Pattern of Brain MRI Lesions in Isolated Complex I Deficiency

N. I. Wolf 1 , A. Seitz 2 , I. Harting 2 , J. A. M. Smeitink 3 , F. Trijbels 3 , L. P. van den Heuvel 3 , H. Schlemmer 4 , F. Ebinger 1 , W. Evert 5 , D. Rating 1
  • 1Department of Paediatric Neurology, University Children's Hospital Heidelberg, Germany
  • 2Department of Neuroradiology, University Hospital, Heidelberg, Germany
  • 3Nijmegen Centre for Mitochondrial Disorders, UMC Nijmegen, Nijmegen, The Netherlands
  • 4Department of Radiology, German Cancer Research Institute, Heidelberg, Germany
  • 5Children's Hospital, Offenbach, Germany
Further Information

Publication History

Received: September 20, 2002

Accepted after Revision: March 28, 2003

Publication Date:
11 August 2003 (online)

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Abstract

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.

References

Dr. Nicole Wolf

Department of Paediatric Neurology, University Children's Hospital

Im Neuenheimer Feld 150

69120 Heidelberg

Germany

Email: nicole_wolf@med.uni-heidelberg.de