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

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.

journal_name

Neonatology

journal_title

Neonatology

authors

Haverkaemper S,Marquardt T,Hausser I,Timme K,Kuehn T,Hertzberg C,Rossi R

doi

10.1159/000324116

subject

Has Abstract

pub_date

2011-01-01 00:00:00

pages

194-7

issue

2

eissn

1661-7800

issn

1661-7819

pii

000324116

journal_volume

100

pub_type

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