Abstract
A 2-year-old boy who presented with a cystic gallbladder mass was found histologically to have metachromatic leukodystrophy. Diffuse hyperplasia of the gallbladder mucosa, multiple tendrillar fronds extending into the lumen, extensive papillomatosis, and the presence of large numbers of macrophages bearing metachromatic material confirmed the diagnosis. The child developed progressive degeneration of the central nervous system, refractory bronchopneumonia, and generalized muscular atrophy. A computed tomographic scan of the brain demonstrated hypodense areas of white matter suggestive of demyelination. This report describes the rare association of gallbladder papillomatosis with a storage disorder and reviews the relevant literature.
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