title: 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.
authors: Department of Pediatrics, Klinikum Neukoelln, Berlin, Germany.
authors: Sabine
authors: S
authors: Haverkaemper
authors: Thorsten
authors: T
authors: Marquardt
authors: Ingrid
authors: I
authors: Hausser
authors: Katharina
authors: K
authors: Timme
authors: Thomas
authors: T
authors: Kuehn
authors: Christoph
authors: C
authors: Hertzberg
authors: Rainer
authors: R
authors: Rossi
mesh_terms: D001706:Biopsy; D017809:Fatal Outcome; D005776:Gaucher Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005962:Glucosylceramidase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics*; D012720:Severity of Illness Index; D012867:Skin / Q000473:pathology / Q000648:ultrastructure
chemical_list: D005962:Glucosylceramidase