Gallbladder Polyps in Metachromatic Leukodystrophy

Research output: Contribution to journalReview articlepeer-review

11 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)102-108
Number of pages7
JournalFetal and Pediatric Pathology
Issue number2
Publication statusPublished - Mar 4 2018


  • gallbladder papillomatosis
  • metachromatic leukodystrophy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine


Dive into the research topics of 'Gallbladder Polyps in Metachromatic Leukodystrophy'. Together they form a unique fingerprint.

Cite this