Article Text

Download PDFPDF

Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease
Free
  1. DEBORAH L STONE,
  2. NAHID TAYEBI,
  3. CHANELLE COBLE,
  4. EDWARD I GINNS,
  5. ELLEN SIDRANSKY
  1. Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bldg 49, Room B1EE16, 49 Convent Drive, MSC4405, Bethesda, MD 20892-4405, USA
  1. Dr Sidransky, sidranse{at}irp.nimh.nih.gov

Statistics from Altmetric.com

Editor—We have recently performed the molecular characterisation of the glucocerebrosidase alleles of a child with an unusual presentation of type 3 Gaucher disease. This patient was among the first described cases of Gaucher disease with cardiac involvement, oculomotor abnormalities, and hydrocephalus,1 features that were subsequently described in patients from Japan,2 3 Israel,4 Spain,5 6Turkey,7 8 Canada,9 and the USA10 11 (table 1). Interestingly, many of these patients were reported to be homozygous for the mutation D409H in the human glucocerebrosidase gene. Similar to the latest case with genotype D409H/D409H described in this journal by Chabáset al,5 our patient had early and aggressive visceral disease. However, unlike many of the other cases reported, pathological evaluation showed cardiovascular …

View Full Text

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.