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
Neonatologyjournal_title
Neonatologyauthors
Haverkaemper S,Marquardt T,Hausser I,Timme K,Kuehn T,Hertzberg C,Rossi Rdoi
10.1159/000324116subject
Has Abstractpub_date
2011-01-01 00:00:00pages
194-7issue
2eissn
1661-7800issn
1661-7819pii
000324116journal_volume
100pub_type
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