Research paper
MELAS: An original case and clinical criteria for diagnosis

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Abstract

We describe the full history and postmortem findings in one of the first identified cases of mitochondrial encephalomyopathy with stroke-like episodes (MELAS). To clarify diagnostic criteria, we analyzed 69 reported cases. The syndrome should be suspected by the following three invariant criteria: (1) stroke-like episode before age 40 yr; (2) encephalopathy characterized by seizures, dementia, or both; and (3) lactic acidosis, ragged-red fibers (RRF), or both. The diagnosis may be considered secure if there are also at least two of the following: normal early development, recurrent headache, or recurrent vomiting. There are incomplete syndromes in relatives of patients with the full syndrome and incomplete syndromes might also be encountered in sporadic cases. Some MELAS patients have features of the Kearns-Sayre syndrome (KSS) or myoclonic epilepsy with ragged-red fibers (MERRF), but none had the full KSS syndrome. In partial or confusing cases, analysis of mitochondrial DNA (mtDNA) may point to the correct diagnosis; however, not all patients with clinical MELAS have had the typical mtDNA point mutation and some patients with the mutation have clinical syndromes other than MELAS.

References (61)

  • Y-i Goto et al.

    A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

    Nature

    (1990)
  • DC Wallace et al.

    Mitochondrial DNA mutation associated with Leber's hereditary optic atrophy

    Science

    (1988)
  • JM Shoffner et al.

    Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation

    Cell

    (1990)
  • IJ Holt et al.

    A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

    Am J Hum Genet

    (1990)
  • E Ciafaloni et al.

    MELAS: clinical features, biochemistry, and molecular genetics

    Ann Neurol

    (1992)
  • Y-i Goto et al.

    Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation

    Neurology

    (1992)
  • MR Koenigsberger et al.

    Juvenile mitochondrial myopathy, short stature and lactic acidosis: a clinical, biochemical, and ultrastructural study

  • LP Rowland et al.

    Diverse clinical disorders associated with morphological abnormalities of mitochondria

  • D Gardner-Medwin et al.

    Lactic acidosis with mitochondrial myopathy and recurrent coma

  • Y Shapira et al.

    Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia

    Neurology

    (1975)
  • SG Pavlakis et al.

    Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome

    Ann Neurol

    (1984)
  • ZH Hart et al.

    Familial poliodystrophy, mitochondrial myopathy, and lactic acidemia

    Arch Neurol

    (1977)
  • DE Britton et al.

    Acute hemiplegia of childhood, lactate-pyruvate acidemia, and mitochondrial disorder

    Ann Neurol

    (1977)
  • V Askansas et al.

    Reincarnation in cultured muscle of mitochondrial abnormalities

    Arch Neurol

    (1978)
  • RR Skoglund

    Reversible alexia, mitochondrial myopathy, and lactic acidemia

    Neurology

    (1979)
  • Y Kobayashi et al.

    Ultrastructural study of the childhood mitochondrial myopathic syndrome associated with lactic acidosis

    Eur J Pediatr

    (1982)
  • J Bougousslavsky et al.

    Mitochondrial myopathy and cardiomyopathy with neurodegenerative features and multiple brain infarcts

    J Neurol Sci

    (1982)
  • T Yamamoto et al.

    Mitochondrial encephalomyopathy: fluctuating symptoms and CT

    Neurology

    (1984)
  • M Kuriyama et al.

    Mitochondrial encephalomyopathy with lactate-pyruvate elevations and brain infarction

    Neurology

    (1984)
  • M Mukoyama et al.

    Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case

    J Neurol

    (1986)
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