Gallbladder Polyps in Metachromatic Leukodystrophy

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 literatu...

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Bibliographic Details
Published in:Fetal and pediatric pathology 2018-04, Vol.37 (2), p.102-108
Main Authors: Almarzooqi, Saeeda, Quadri, Asif, Albawardi, Alia
Format: Article
Language:English
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Summary: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. 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. 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.
ISSN:1551-3815
1551-3823
DOI:10.1080/15513815.2018.1424277