Article
Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation.
Neonatology - 1 Jan 2011
Haverkaemper Sabine, Marquardt Thorsten, Hausser Ingrid, Timme Katharina, Kuehn Thomas, Hertzberg Christoph, Rossi Rainer
Abstract excerpt
This paper describes a neonate with type II Gaucher disease. The phenotype was unusually severe with congenital ichthyosis, hepatosplenomegaly, muscular hypotonia, myoclonus and respiratory failure. Electron microscopy of the skin revealed lamellar body contents in the stratum corneum interstices, appearances considered to be typical of type II Gaucher disease. The baby died from respiratory failure 1 month...
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