Mitochondrial Angiopathy in a Family with MELAS

Ch. Förster; G. Hübner; J. Müller-Höcker; D. Pongratz; P. Baierl; R. Senger; W. Ruitenbeek

doi:10.1055/s-2008-1071335

Neuropediatrics, Table of Contents

Neuropediatrics 1992; 23(3): 165-168
DOI: 10.1055/s-2008-1071335

Case report

Mitochondrial Angiopathy in a Family with MELAS

Ch. Förster¹ , G. Hübner² , J. Müller-Höcker² , D. Pongratz³ , P. Baierl⁴ , R. Senger⁵ , W. Ruitenbeek⁵

¹Department of Pediatrics, University of Munich, Germany
²Institute of Pathology, University of Munich, Germany
³Department of Medicine, University of Munich, Germany
⁴Department of Radiology, University of Munich, Germany
⁵Department of Pediatrics, University of Nijmwegen, The Netherlands

Abstract

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Abstract

A family with mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike epidoses (MELAS) affecting mother, son and daughter is described. Biochemical studies on muscle biopsy specimen in one patient revealed NADH dehydrogenase (complex I) deficiency. A mitochondrial angiopathy could be demonstrated by brain and muscle biopsy. It is suggested that the mitochondrial angiopathy is the basic pathogenic mechanism of impaired cerebral circulation in MELAS.

Key words

Mitochondrial encephalomyopathy (MELAS) - NADH dehydrogenase deficiency - Mitochondrial angiopathy

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