title: Gallbladder abnormalities in children with metachromatic leukodystrophy.
abstract: 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.
  
  
  
  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 χ2test for categorical variables, with significance defined as P < 0.05.
  
  
  
  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).
  
  
  
  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.
authors.affiliation: Department of Surgery, Duke University Medical Center, Durham, North Carolina. Electronic address: jina.kim1@dm.duke.edu.
authors.forename: Jina
authors.initials: J
authors.lastname: Kim
authors.affiliation: Department of Surgery, Duke University Medical Center, Durham, North Carolina.
authors.forename: Zhifei
authors.initials: Z
authors.lastname: Sun
authors.affiliation: Department of Surgery, Duke University Medical Center, Durham, North Carolina.
authors.forename: Brian
authors.initials: B
authors.lastname: Ezekian
authors.affiliation: Department of Radiology, Duke University Medical Center, Durham, North Carolina.
authors.forename: Gary R
authors.initials: GR
authors.lastname: Schooler
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.
authors.forename: Vinod K
authors.initials: VK
authors.lastname: Prasad
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.
authors.forename: Joanne
authors.initials: J
authors.lastname: Kurtzberg
authors.affiliation: Department of Surgery, Duke University Medical Center, Durham, North Carolina.
authors.forename: Henry E
authors.initials: HE
authors.lastname: Rice
authors.affiliation: Department of Surgery, Duke University Medical Center, Durham, North Carolina.
authors.forename: Elisabeth T
authors.initials: ET
authors.lastname: Tracy
mesh_terms: D001660:Biliary Tract Diseases / Q000453:epidemiology / Q000209:etiology* / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D005704:Gallbladder / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000150:complications* / Q000453:epidemiology; D009657:North Carolina / Q000453:epidemiology; D012189:Retrospective Studies
keywords: Adrenoleukodystrophy; Child; Gallbladder; Krabbe disease; Metachromatic leukodystrophy