14800-DvRappard

145 Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy 9 INTRODUCTION Metachromatic leukodystrophy (MLD, OMIM#250100) is an autosomal recessive storage disorder caused by deficiency of the lysosomal enzyme arylsulfatase A. Consequently, sulfatides accumulate mainly in oligodendrocytes and Schwann cells in the central and peripheral nervous system, resulting in demyelination. 1 Onset is from infancy to adulthood, with the late-infantile form starting before 30 months of age, the juvenile form before 16 years and the adult form thereafter. First symptoms and signs in younger patients consist of motor deterioration, in older patients of cognitive decline and psychiatric symptoms. The disease relentlessly progresses and eventually all acquired skills are lost. 2 Hematopoietic stem cell transplantation (HSCT) is a possible treatment for selected patients, if MLD is diagnosed early; 3 gene therapy is emerging as a novel treatment option. 4 Both aim at halting or preventing the neurodegenerative process. Sulfatides also accumulate in visceral organs, including the gallbladder. Case reports describe complications such as hemobilia and cholecystitis 5-8 Histopathologic findings include macrophages filled with sulfatides, polyps, intestinal metaplasia and low-grade dysplasia. 9-13 One of our MLD patients died at the age of 32 years from metastatic gallbladder carcinoma, a neoplasm usually occurring at an average age of 56-63 years. 14 Together with the report of another MLD patient who died of gallbladder carcinoma at age 18 years, 15 this observation raises the possibility of an increased vulnerability of MLD patients to develop this malignancy. We therefore started screening our patient group for gallbladder abnormalities by ultrasound. Retrospective evaluation of these data revealed a high rate of abnormal findings.