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Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation

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, a...

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Main Authors: Haverkämper, Sabine (Author) , Marquardt, Thorsten (Author) , Haußer-Siller, Ingrid (Author) , Timme, Katharina (Author) , Kuehn, Thomas (Author) , Hertzberg, Christoph (Author) , Rossi, Rainer (Author)
Format: Article (Journal)
Language:English
Published: [August 2011]
In: Neonatology
Year: 2011, Volume: 100, Issue: 2, Pages: 194-197
ISSN:1661-7819
DOI:10.1159/000324116
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1159/000324116
Verlag, lizenzpflichtig, Volltext: https://www.karger.com/Article/FullText/324116
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Author Notes:Sabine Haverkaemper, Thorsten Marquardt, Ingrid Hausser, Katharina Timme, Thomas Kuehn, Christoph Hertzberg, Rainer Rossi
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Summary: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 postpartum having made no neurological progress. Molecular analysis identified a previously not reported homozygous null mutation, c.1505G→A of the β-glucocerebrosidase gene.
Item Description:Gesehen am 23.09.2022
Physical Description:Online Resource
ISSN:1661-7819
DOI:10.1159/000324116

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