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European Journal of Pediatrics

, Volume 155, Issue 10, pp 898–903 | Cite as

Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu[UUR] gene

  • P. S. Kishnani
  • J. L. K. Van Hove
  • J. S. Shoffner
  • A. Kaufman
  • E. H. Bossen
  • S. G. Kahler
Metabolic Diseases

Abstract

The A to G point mutation at position 3243 of the mitochondrial DNA tRNALeu(UUR)gene is commonly found in patients with the syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). A male patient was referred at 7 months with failure to thrive, developmental delay, microcephaly and hypotonia since age 2 months. He had developed lactic acidosis and increasingly frequent seizures since age 5 months. The patient was admitted at 15 months with pleural and pericardial effusions, which resolved. Three weeks later he developed evidence of pancreatitis with hyperglycemia, sudden profound increase in lactic acidosis and increased serum lipase. He died unexpectedly the next day of cardiorespiratory collapse following an acute gastro-intestinal hemorrhage. Analysis of mitochondrial DNA (mtDNA) in muscle showed heteroplasmy for the mutation MTTL1*MELAS3243G (> 95%). Infants with this mutation commonly present with failure to thrive, significant developmental delay, and hypotonia, while stroke-like episodes occur later in survivors. They usually have lactic acidosis and a high percentage of mutant mtDNA in muscle.

Key words

MELAS Infantile presentation Lactic acidosis Pancreatitis 

Abbreviations

MELAS

mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes

mtDNA

mitochondrial DNA

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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • P. S. Kishnani
    • 1
  • J. L. K. Van Hove
    • 1
  • J. S. Shoffner
    • 2
  • A. Kaufman
    • 2
  • E. H. Bossen
    • 3
  • S. G. Kahler
    • 1
  1. 1.Division of Medical Genetics, Department of PediatricsDuke University Medical CenterDurhamUSA
  2. 2.Department of Neurology, Emory UniversitySchool of MedicineAtlantaUSA
  3. 3.Department of PathologyDuke University Medical CenterDurhamUSA

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