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Review
. 2018 Apr;37(2):102-108.
doi: 10.1080/15513815.2018.1424277. Epub 2018 Mar 1.

Gallbladder Polyps in Metachromatic Leukodystrophy

Saeeda Almarzooqi  1 , Asif Quadri  2 , Alia Albawardi  1
Affiliations
Review

Gallbladder Polyps in Metachromatic Leukodystrophy

Saeeda Almarzooqi et al. Fetal Pediatr Pathol. 2018 Apr.

Abstract

Background: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease, caused by a deficiency of arylsulfatase A, and leads to demyelination of the nervous system. A putative association between MLD and gallbladder pathology including malignancy is documented in the medical literature.

Case report: A 10-year-old boy with MLD was found to have a papillary growth within a cystically dilated gallbladder. The lesion was confirmed to be papillomatosis/polyp with focal intestinal metaplasia. Dysplasia was not identified.

Conclusion: MLD may be associated with a spectrum of gallbladder pathology including neoplastic conditions. Pathologists and clinicians should be aware of this association/risk. The patient may be offered regular ultrasound screening of the gallbladder.

Keywords: gallbladder papillomatosis; metachromatic leukodystrophy.

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