Combined cyclic vomiting and Kearns-Sayre syndromes

Pediatr Neurol. 2007 Feb;36(2):135-6. doi: 10.1016/j.pediatrneurol.2006.09.008.


The third case of cyclic vomiting syndrome with a large mitochondrial deoxyribonucleic acid rearrangement is described. Multiple neuromuscular anomalies are present that meet the diagnostic criteria for Kearns-Sayre syndrome, as well as severe symmetrical growth retardation. A 3-kilobase mitochondrial deoxyribonucleic acid deletion (nucleotides 10970-14118) was found at 30-40% heteroplasmy in the blood of the child, but not the mother. Although mitochondrial dysfunction and disease-associated mitochondrial deoxyribonucleic acid sequence variants are believed to be present in most cyclic vomiting syndrome cases, these variants are rarely identifiable on "standard" mitochondrial deoxyribonucleic acid testing. However, finding a rearrangement has clinical implications, and standard testing is recommended in those cyclic vomiting syndrome cases with neuromuscular disease and/or growth retardation, whether maternal inheritance is present or not.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • DNA, Mitochondrial / genetics
  • Female
  • Gene Deletion
  • Growth Disorders / etiology
  • Growth Disorders / genetics
  • Humans
  • Kearns-Sayre Syndrome / complications*
  • Kearns-Sayre Syndrome / genetics*
  • Phenotype
  • Vomiting / etiology*
  • Vomiting / genetics*


  • DNA, Mitochondrial