Perinatal-lethal Gaucher disease can be the underlying cause of congenital ichthyosis

Kubra Baskin, Eser Aynaci, Ozge Onay Surmeli, M. Munevver Bas

Abstract


In this paper, we present an infant born with congenital ichthyosis who was also diagnosed with a perinatal-lethal form of type 2 Gaucher disease (GD). GD is a glycolipid storage disease leading to widely variable phenotypes such as hydrops fetalis, congenital ichthyosis, hepatosplenomegaly, thrombocytopenia, anemia, muscular hypotonia, seizures, and respiratory failure. Our patient died due to respiratory failure at 78 days of postnatal age. Molecular genetic tests showed homozygous mutation c.[1505G>A];[1505G>A] of the β-glucocerebrosidase gene. We would like to focus the attention on the fact that perinatal-lethal GD can be the underlying cause of congenital ichthyosis.

Keywords


Gaucher disease; congenital ichthyosis; β-glucocerebrosidase

Full Text: PDF Number of abstract views: 300 Number of PDF views/downloads: 195

 

N.B. All JPNIM articles are accessible in Open Access. You can access the page containing the full PDF article just by clicking on the “Full Text: PDF” link at the bottom of the abstract page. On the full article page, if the article doesn’t load properly in the PDF view window, please wait a few seconds or click on the “Download this PDF file” link.

Technical advice. If you are using Firefox and you are experiencing problems, please set the browser preferences as follows: Firefox > Preferences > Advanced > General > Accessibility > deselect "Warn me when web sites try to redirect or reload the page".

Privacy Policy. English text: Privacy Policy; Italian text: Privacy Policy.

Cookie Policy. English text: Cookie Policy; Italian text: Cookie Policy.