Gallbladder abnormalities in children with metachromatic leukodystrophy.

Journal Article (Journal Article)

BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal storage disease that leads to neurological deterioration and visceral involvement, including sulphatide deposition in the gallbladder wall. Using our institution's extensive experience in treating MLD, we examined the incidence of gallbladder abnormalities in the largest cohort of children with MLD to date. METHODS: We conducted a retrospective review of all children with MLD, adrenoleukodystrophy (ALD), or Krabbe disease who underwent hematopoietic stem cell transplantation (HSCT) at our institution between 1994 and 2015. Baseline characteristics and unadjusted outcomes were compared using the Kruskal-Wallis test for continuous variables and Pearson χ2 test for categorical variables, with significance defined as P < 0.05. RESULTS: In total, 87 children met study criteria: 29 children with MLD and 58 children with ALD or Krabbe disease. Children with MLD were more likely to demonstrate gallbladder abnormalities on imaging, both before HSCT (41.4% versus 5.2%, P < 0.001) and after HSCT (75.9% versus 41.4%, P = 0.002). Consequently, a larger proportion of children with MLD underwent surgical or interventional management of biliary disease (10.3% versus 3.4%, P = 0.03). CONCLUSIONS: Children with MLD have a significantly greater incidence of gallbladder abnormalities than children with other lysosomal storage diseases. Biliary disease should be considered in children with MLD who develop abdominal pain, and cholecystectomy should be considered for persistent, symptomatic gallbladder abnormalities.

Full Text

Duke Authors

Cited Authors

  • Kim, J; Sun, Z; Ezekian, B; Schooler, GR; Prasad, VK; Kurtzberg, J; Rice, HE; Tracy, ET

Published Date

  • February 2017

Published In

Volume / Issue

  • 208 /

Start / End Page

  • 187 - 191

PubMed ID

  • 27993207

Electronic International Standard Serial Number (EISSN)

  • 1095-8673

Digital Object Identifier (DOI)

  • 10.1016/j.jss.2016.08.081


  • eng

Conference Location

  • United States