%0 Case Reports
%T A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy.
%A Zhang T
%A Zhang X
%A Zhang N
%A Yan J
%A Wang L
%A Yan W
%A Yu Z
%A Zhang Y
%A Duan Y
%A Zhang R
%J Mol Genet Metab Rep
%V 39
%N 0
%D 2024 Jun
%M 38571878
%F 2.082
%R 10.1016/j.ymgmr.2024.101075
%X This case report describes a patient initially diagnosed with Gaucher disease (GD) with type I with homozygous mutation c.1448T > C p. (Leu483Pro) at age of 2, presenting with hepatosplenomegaly and cytopenia. Imiglucerase replacement therapy was initiated. At age 17, bilateral hearing loss developed, with subsequent Cranial MRI revealing thalamic damage, leading to a reclassification as type 3 GD. By age of 20, the patient presented with a range of symptoms, including abdominal pain, diarrhea, hypoproteinemia, multiple lymphadenopathy, edema, and Gaucher cell infiltration in the lymph nodes. Comprehensive diagnosis identifies Gaucher tumor and protein-losing enteropathy. Imiglucerase therapy at 90-120 U/kg every 2 weeks significantly improved clinical symptoms, emphasizing the importance of tailored interventions for managing GD manifestations.