title: Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: prospective case study.
abstract: CHARGE syndrome is a genetic disorder caused by a mutation in the CHD7 gene on chromosome 8. Major clinical diagnostic criteria for this heterogeneous disorder include ocular coloboma, choanal atresia/stenosis, characteristic external and internal ear abnormalities, and cranial nerve abnormalities. Patients with CHARGE syndrome often have dysphagia and are at high risk for aspiration of both upper and lower gastrointestinal secretions. The following case-report describes the use of Botulinum toxin A (Botox) to reduce excess salivary secretions in a ventilator dependant infant who would have required a tracheotomy. Thereafter, Botox was used regularly (4-5 months) to decrease the salivary secretions. This case-report is unique in that it describes the intermittent and prospective use of Botox to reduce excess salivary secretions and prevent the resulting aspiration-related complications in an infant with CHARGE syndrome.
authors.affiliation: Department of Pediatrics, IWK Health Center, Halifax, Nova Scotia, Canada. kim.blake@dal.ca
authors.forename: Kim D
authors.initials: KD
authors.lastname: Blake
authors.forename: Jillian
authors.initials: J
authors.lastname: MacCuspie
authors.forename: Gerard
authors.initials: G
authors.lastname: Corsten
mesh_terms: D019274:Botulinum Toxins, Type A / Q000008:administration & dosage* / Q000627:therapeutic use*; D058747:CHARGE Syndrome / Q000235:genetics / Q000628:therapy*; D002675:Child, Preschool; D004265:DNA Helicases / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D011446:Prospective Studies; D012463:Saliva / Q000187:drug effects / Q000378:metabolism*; D012469:Salivary Glands; D012472:Salivation / Q000187:drug effects* / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D019274:Botulinum Toxins, Type A; D004265:DNA Helicases; C491434:CHD7 protein, human