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Neuropediatrics 1991; 22(1): 10-14
DOI: 10.1055/s-2008-1071408
Original article

© Georg Thieme Verlag KG Stuttgart · New York

MELAS Syndrome - Report of Two Patients, and Comparison with Data of 24 Patients Derived from the Literature*

J. L. M.  van Hellenberg Hubar1 , F.J. M. Gabreëls1 , W.  Ruitenbeek2 , R. C. A. Sengers2 , W. O. Renier1 , H. O. M. Thijssen3 , H. J. ter Laak1
  • 1Institute of Neurology, University Hospital Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
  • 2Institute of Pediatrics, University Hospital Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
  • 3Department of Neuroradiology, University Hospital Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
* This investigation is part of the research program „Disorders of the Neuromuscular System” of the University of Nijmegen.
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

We present two unrelated MELAS patients, and compare them with 24 patients derived from the literature. In most patients the stroke-like features of the MELAS syndrome occur late in the course of the disease. The diagnosis is based on characteristic clinical symptoms, presence of lactic acidemia, mitochondriopathy in muscle, and low density lesions on cerebral CT, most frequently occurring in the posterior and parieto-temporal regions. In some cases, a metabolic defect could not be demonstrated, in other cases a partial deficiency of various respiratory chain enzymes was found.

Key words

MELAS - Mitochondrial encephalomyopathy - Lactic acidemia