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

  • Mary Ann R. Abacan
  • Mary Anne D. Chiong
Keywords: Gaucher disease, neuronopathic Gaucher, cholelithiasis, type 3 Gaucher disease


Gaucher disease is the most common of the lysosomal storage diseases caused by a defect in the lysosomal enzyme βglucocererbrosidase 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.


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