Combined cyclic vomiting and Kearns-Sayre syndromes.
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.
Boles
Richard G
RG
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
Baldwin
Erin E
EE
Prezant
Toni R
TR
D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006130:Growth Disorders / Q000209:etiology / Q000235:genetics; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications* / Q000235:genetics*; D010641:Phenotype; D014839:Vomiting / Q000209:etiology* / Q000235:genetics*
D004272:DNA, Mitochondrial