14800-DvRappard

144 Chapter 9 ABSTRACT Objectives To assess frequency of gallbladder polyposis and carcinoma inmetachromatic leukodystrophy (MLD). Methods We evaluated 34 MLD patients (average age 16.7 years, age range 2-39 years) screened for gallbladder abnormalities by ultrasound. In the case of cholecystectomy, findings at pathology were reviewed. Results Only 8 of 34 (23%) patients had a normal gallbladder at ultrasound. Gallbladder polyps were visible in 8 (23%) patients. Cholecystectomy was performed in 11 (32%) patients. In these, pathology revealed various abnormalities, including hyperplastic polyps, intestinal metaplasia, prominent Rokitansky-Aschoff sinuses and sulfatide storage. Conclusions Our results demonstrate that gallbladder involvement is the rule rather than the exception inMLD.The highprevalence of hyperplastic polyps, a knownprecancerous condition, and one death from gallbladder carcinoma at a young age suggest that MLD predisposes to neoplastic gallbladder abnormalities. As novel therapies for this patient group are emerging leading to increased life expectancy, we recommend screening for gallbladder abnormalities by ultrasound in order to prevent early death.