Article
Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1995
Erduran E, Mocan H, Gedik Y, Kamaci R, Okten A, Değer O
Abstract excerpt
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 hypertr...
Topics
- Adolescent
- Biopsy, Needle
- Bone Marrow
- Child
- Corneal Opacity
- Deafness
- Diagnostic Imaging
- Female
- Fingers
- Gaucher Disease
- Glucosylceramidase
- Humans
- Hydrocephalus
- Hypertrophy, Left Ventricular
- Phenotype
- Syndrome
- Toes