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Updated: Apr 3, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
[Splenomegaly and failure to thrive as a result of Gaucher disease]
Grith Lærkholm Hansen1, Allan Meldgaard Lund, Malene Landbo Børresen
1grithlaerkholm@gmail.com.
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.
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