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Pediatr Neurol. 2007 Feb;36(2):135-6.

Combined cyclic vomiting and Kearns-Sayre syndromes.

Author information

1
Division of Medical Genetics, Childrens Hospital Los Angeles, and Department of Pediatrics, Keck School of Medicine at the University of Southern California, Los Angeles 90027, USA. rboles@chla.usc.edu

Abstract

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.

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