title: Gaucher disease with pulmonary involvement in a 6-year-old girl: report of resolution of radiographic abnormalities on increasing dose of imiglucerase.
abstract: We report resolution of ground-glass appearance in high-resolution computed tomography of chest in a 6-year-old girl who had Gaucher disease with pulmonary involvement. This radiographic abnormality, which developed during the course of enzyme replacement therapy at doses between 20 to 60 U/kg/2 weeks, resolved when the dose was increased to 100 U/kg/2 weeks. This case illustrates the importance of trial of escalating dosage in the face of failure of response at lower doses.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, SAR, Hong Kong.
authors.forename: S Y
authors.initials: SY
authors.lastname: Lee
authors.forename: A W
authors.initials: AW
authors.lastname: Mak
authors.forename: K F
authors.initials: KF
authors.lastname: Huen
authors.forename: S T
authors.initials: ST
authors.lastname: Lam
authors.forename: C B
authors.initials: CB
authors.lastname: Chow
mesh_terms: D002648:Child; D004305:Dose-Response Relationship, Drug; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000000981:diagnostic imaging / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000008:administration & dosage* / Q000627:therapeutic use; D006801:Humans; D008171:Lung Diseases / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000209:etiology*; D011859:Radiography; D017211:Treatment Failure
chemical_list: D005962:Glucosylceramidase; C090568:imiglucerase