Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency.
Genet Couns
; 6(3): 211-5, 1995.
Article
em En
| MEDLINE
| ID: mdl-8588848
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Dedos do Pé
/
Hipertrofia Ventricular Esquerda
/
Opacidade da Córnea
/
Surdez
/
Dedos
/
Doença de Gaucher
/
Glucosilceramidase
/
Hidrocefalia
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Female
/
Humans
Idioma:
En
Ano de publicação:
1995
Tipo de documento:
Article