A very rare cause of protein losing enteropathy: Gaucher disease

Abstract

Gaucher disease (GD) is a rare, autosomal recessive genetic disorder caused by deficiency of lysosomal enzyme, glucocerebrosidase, which results in the accumulation of glucocerebrosideladen macrophages (Gaucher cells) in the reticuloendothelial system. 1 Mesenteric lymphadenopathy is a rare manifestation of GD in children and can be accompanied by protein losing enteropathy (PLE). PLE is a difficult-to-treat complication of GD. To date, only a few pediatric GD cases with PLE and massive mesenteric lymphadenopathies have been reported. [1][2][3][4] Here, we report a girl with chronic neuronopathic GD whose disease course was complicated by massive mesenteric lymphadenopathies with resultant protein losing enteropathy despite a regular and appropriate enzyme replacement therapy (ERT). Case ReportThe patient was the first child of nonconsanguineous parents and the diagnosis of GD was made at the age of 18 months. At the time of diagnosis, she had severe hepatosplenomegaly

A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy

“…The pathogenesis of Gaucher tumor with PLE remains unclear. It is speculated to be related to mesenteric lymphadenopathy, secondary lymphatic obstruction, inadequate enzyme replacement therapy (ERT) dosage, splenectomy, and the development of neutralizing antibodies against ERT[ 10 , 11 ]. Currently there is no effective and targeted treatment for Gaucher tumor with PLE.…”

Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations

“…The origin of gastrointestinal symptoms in LSDs is complex and triggered by many factors. Diarrhoea is the second most common gastrointestinal symptom in LSDs and is seldom associated with blood or mucus in the stool [ 28 ]. The diarrhoea may be due to neuropathy, myopathy, an unbalanced entero-hepatic circulation of bile acids or substrate deposits in the intestinal mucosa.…”