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Splenomegali og dårlig trivsel som følge af morbus Gaucher

Udtalt splenomegali. To måneder efter påbegyndt behandling.
Forfatter(e)
Grith Lærkholm Hansen1, Allan Meldgaard Lund2 & Malene Landbo Børresen1 1) Børneafdelingen, Hvidovre Hospital 2) Center for Sjældne Sygdomme, Rigshospitalet Ugeskr Læger 2015;177:V04150358
Reference: 
Ugeskr Læger 2015;177:V04150358
Blad nummer: 
Sidetal: 
2-3
Splenomegaly and failure to thrive as a result of Gaucher disease
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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