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MERRF syndrome with overwhelming lactic acidosis

T D Sanger1, K D Jain

  • 1Department of Pediatrics, USC + Los Angeles County Medical Center, USA.

Pediatric Neurology
|January 1, 1996
PubMed
Summary

A rare mitochondrial DNA mutation causing Myoclonic epilepsy with ragged-red fiber syndrome (MERRF) can lead to a severe, rapidly progressing disease. This case highlights aggressive MERRF in a child, contrasting with typical adult presentations.

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Area of Science:

  • Genetics
  • Neurology
  • Mitochondrial Diseases

Background:

  • Myoclonic epilepsy with ragged-red fiber syndrome (MERRF) is typically linked to a mitochondrial DNA mutation (8344 A>G) in the tRNA(Lys) gene.
  • Previously reported adult MERRF patients with this mutation exhibit slow progression and mild to moderate symptoms.
  • The clinical spectrum and progression rate of MERRF syndrome can vary significantly.

Observation:

  • This study details an atypical MERRF case in a pediatric patient with a rapid and severe clinical course.
  • Symptom onset occurred at age 7, with death by age 14 due to overwhelming lactic acidosis.

Findings:

  • Postmortem tissue analysis revealed high percentages of mutant mitochondrial genomes across multiple organ systems.
  • Genetic testing in 21 family members showed varying levels of the mutation in leukocytes.

Implications:

  • This case underscores the potential for extreme phenotypic variability in MERRF, even with the common m.8344A>G mutation.
  • Understanding the factors influencing MERRF severity and progression is crucial for patient management and genetic counseling.

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