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

Mary Ann R. Abacan1 and Mary Anne D. Chiong1,2

1Institute of Human Genetics, National Institutes of Health,
University of the Philippines Manila
2Section of Genetics, Department of Pediatrics, College of Medicine and
Philippine General Hospital, University of the Philippines Manila

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

Key Words: Gaucher disease, neuronopathic Gaucher, cholelithiasis, type 3 Gaucher disease