Gallbladder Polyps in Metachromatic Leukodystrophy. (4th March 2018)

• Record Type: Journal Article
• Authors: Almarzooqi, Saeeda; Quadri, Asif; Albawardi, Alia
• Is Part Of: Fetal and pediatric pathology. Volume 37:Number 2(2018)
• Page Start: 102
• Page End: 108
• Publication Date: 2018-03-04
• Subjects: metachromatic leukodystrophy -- gallbladder papillomatosis; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2018.1424277
• Languages: English
• ISSNs: 1551-3815

Abstract

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.