title: Gaucher disease with communicating hydrocephalus and cardiac involvement.
abstract: A 14-year-old female with Gaucher disease presented with hydrocephalus, corneal opacities, cirrhosis, and cardiac valvular involvement. A homozygous D409H mutation was identified. She underwent surgery for aortic and mitral valve replacement. Because of severe calcification of the aortic root, no successful valve replacement was performed. She died on the third day after the explorative cardiac surgery. Cardiac abnormalities represent a life-threatening presentation of the homozygous D409H mutation. Identification of this type is essential prior to initiating appropriate therapy with enzyme replacement and cardiac corrective surgery.
authors.affiliation: Division of Pediatric Cardiology, Baskent University Hospital, Ankara, Turkey. kursatokel@baskent-ank.edu.tr
authors.forename: N
authors.initials: N
authors.lastname: Cindik
authors.forename: F
authors.initials: F
authors.lastname: Ozcay
authors.forename: D
authors.initials: D
authors.lastname: Süren
authors.forename: I
authors.initials: I
authors.lastname: Akkoyun
authors.forename: M
authors.initials: M
authors.lastname: Gökdemir
authors.forename: B
authors.initials: B
authors.lastname: Varan
authors.forename: F
authors.initials: F
authors.lastname: Alehan
authors.forename: N
authors.initials: N
authors.lastname: Ozbek
authors.forename: K
authors.initials: K
authors.lastname: Tokel
mesh_terms: D000293:Adolescent; D001021:Aortic Valve / Q000473:pathology* / Q000601:surgery; D002114:Calcinosis / Q000473:pathology / Q000601:surgery; D017809:Fatal Outcome; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis / Q000601:surgery; D006349:Heart Valve Diseases / Q000150:complications / Q000473:pathology* / Q000601:surgery; D006801:Humans; D006849:Hydrocephalus / Q000150:complications*; D008943:Mitral Valve / Q000473:pathology* / Q000601:surgery