A very rare cause of protein losing enteropathy: gaucher disease

BACKGROUND Mesenteric lymphadenopathy is a rare manifestation of Gaucher disease (GD) in children and can be accompanied by protein losing enteropathy (PLE). PLE difficult-to-treat complication GD. To date, only few pediatric GD cases with massive mesenteric lymphadenopathies have been reported. CASE Here, we report girl chronic neuronopathic GD, whose course was complicated resultant despite regular appropriate enzyme replacement therapy 60 IU/kg/biweekly until the development 120 thereafter. CONCLUSIONS devastating life threatening developing long term use high dose ERT. Clinicians should alert for this particularly patients presenting progressive abdominal distension, edema, ascites diarrhea or who already developed lymphadenopathies. Timely diagnosis may allow early intervention previously suggested surgical medical treatment options. Although there no specific effective treatment, aggressive interventions addition to ERT were reported relieve halt progression