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Novel Insights from Clinical Practice

Congenital Ichthyosis in Severe Type II Gaucher Disease with a Homozygous Null Mutation

Haverkaemper S.a · Marquardt T.c · Hausser I.d · Timme K.a · Kuehn T.a · Hertzberg C.b · Rossi R.a

Author affiliations

Departments of aPediatrics and bPediatric Neurology and Social Care, Klinikum Neukoelln, Berlin, cDepartment of Pediatrics, University Hospital, Muenster, and dDepartment of Dermatology, Electron Microscopy Laboratory, University Hospital, Heidelberg, Germany

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Neonatology 2011;100:194–197

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Article / Publication Details

First-Page Preview
Abstract of Novel Insights from Clinical Practice

Received: November 29, 2010
Accepted: January 07, 2011
Published online: April 01, 2011
Issue release date: August 2011

Number of Print Pages: 4
Number of Figures: 2
Number of Tables: 0

ISSN: 1661-7800 (Print)
eISSN: 1661-7819 (Online)

For additional information: https://www.karger.com/NEO

Abstract

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.

© 2011 S. Karger AG, Basel


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Article / Publication Details

First-Page Preview
Abstract of Novel Insights from Clinical Practice

Received: November 29, 2010
Accepted: January 07, 2011
Published online: April 01, 2011
Issue release date: August 2011

Number of Print Pages: 4
Number of Figures: 2
Number of Tables: 0

ISSN: 1661-7800 (Print)
eISSN: 1661-7819 (Online)

For additional information: https://www.karger.com/NEO


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