Cholelithiasis in a Filipino Child with Chronic Neuronopathic Gaucher Disease: A Case Report

Abstract

Gaucher disease is the most common of the lysosomal storage diseases caused by a defect in the lysosomal enzyme ?glucocererbrosidase resulting in multi-organ involvement. The presence of cholelithiasis has been rarely observed among patients with non-neuronopathic type of Gaucher disease and the exact pathophysiology is still unknown. We report a Filipino child with chronic neuronopathic Gaucher Disease noted to have cholelithiasis on routine whole abdominal ultrasonography as part of the regular monitoring of the disease.