Cholelithiasis in a Filipino child with chronic neuronopathic gaucher disease: A case report

Author: Mary Ann R. Abacan ¹ ; Mary Anne D. Chiong ^{1
,

2}
Author Information

1. Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila
2. Section of Genetics, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila
Publication Type:Case Reports
Keywords: Neuronopathic Gaucher
MeSH: Gaucher Disease; Cholelithiasis; Gaucher Disease
From: Acta Medica Philippina 2017;51(3):245-247
CountryPhilippines
Language:English
Abstract: 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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