Combined cyclic vomiting and Kearns-Sayre syndromes.
Pediatr Neurol
; 36(2): 135-6, 2007 Feb.
Article
em En
| MEDLINE
| ID: mdl-17275670
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Vômito
/
Síndrome de Kearns-Sayre
Tipo de estudo:
Etiology_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Pediatr Neurol
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Estados Unidos