title: [Splenomegaly and failure to thrive as a result of Gaucher disease].
abstract: Gaucher disease (GD) is the most common lysosomal storage disease with a prevalence of 1:75,000. The disease is caused by a defiency of the lysosomal enzyme glucocerebrosidase which leads to an accumulation of the substrate glycosylceramide within macrophages. GD presents with a wide spectrum of symptoms but involvement of the bones, bone marrow and spleen or liver is seen in the majority of patients. We present the case of a ten-year-old girl with massive splenomegaly, cytopenia, poor growth, learning difficulties and extreme fatigue for several years.
authors.affiliation: grithlaerkholm@gmail.com.
authors.forename: Grith Lærkholm
authors.initials: GL
authors.lastname: Hansen
authors.forename: Allan Meldgaard
authors.initials: AM
authors.lastname: Lund
authors.forename: Malene Landbo
authors.initials: ML
authors.lastname: Børresen
mesh_terms: D002648:Child; D005183:Failure to Thrive / Q000209:etiology*; D005260:Female; D005776:Gaucher Disease / Q000150:complications*; D006801:Humans; D012998:Somalia / Q000208:ethnology; D013163:Splenomegaly / Q000209:etiology*