title: Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency.
abstract: We report a 12-year-old girl with an unusual phenotype of Gaucher disease type 3. Liver glucocerebrosidase activity was 20% of the normal. In addition to common manifestations such as hepatomegaly, she showed primary communicating hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, and clinodactyly of hands and feet. We suspect cardiomyopathy to be due to myocardiac infiltration with Gaucher cells, and corneal opacities to result from an accumulation of lipid-like inclusions into the posterior stromal keratinocytes. We were only able to find one previously published sibship disclosing similar features, which could allow the delineation of a new clinical variant of Gaucher disease.
authors.affiliation: Faculty of Medicine, Department of Pediatrics, Karadeniz Technical University, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Erduran
authors.forename: H
authors.initials: H
authors.lastname: Mocan
authors.forename: Y
authors.initials: Y
authors.lastname: Gedik
authors.forename: R
authors.initials: R
authors.lastname: Kamaci
authors.forename: A
authors.initials: A
authors.lastname: Okten
authors.forename: O
authors.initials: O
authors.lastname: Değer
mesh_terms: D000293:Adolescent; D001707:Biopsy, Needle; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D003318:Corneal Opacity / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D003952:Diagnostic Imaging; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005776:Gaucher Disease / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D005962:Glucosylceramidase / Q000172:deficiency*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D017379:Hypertrophy, Left Ventricular / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*
chemical_list: D005962:Glucosylceramidase