J. Kim1, Z. Sun1, V. K. Prasad2, J. Kurtzberg2, H. Rice1, E. T. Tracy1 1Duke University Medical Center,Surgery,Durham, NC, USA 2Duke University Medical Center,Pediatrics,Durham, NC, USA
Introduction:
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease (LSD) that leads to progressive neurological deterioration without hematopoietic stem cell transplantation (HSCT). Visceral involvement, including sulphatide deposition in the gallbladder wall, is known to occur in MLD. Our objective was to examine the incidence and outcomes of gallbladder abnormalities in children with MLD compared with children with similar LSDs, such as adrenoleukodystrophy (ALD) and Krabbe Disease.
Methods:
We conducted a retrospective review of 24 consecutive children with MLD and 64 consecutive children with either ALD or Krabbe disease who underwent HSCT at our institution between 1994-2009. 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, gallbladder abnormalities were present in 17 (71%) MLD patients compared with 17 (27%) ALD/Krabbe patients (p < 0.001). In the MLD group, these abnormalities included sludge (54%), wall thickening (38%), contracted gallbladder (42%), cholelithiasis (12%), and polyposis (8%). Prior to HSCT, gallbladder abnormalities were found in 5 (21%) MLD patients and 2 (3%) ALD/Krabbe patients (p = 0.006). After HSCT, an additional 12 (50%) MLD patients and 12 (19%) ALD/Krabbe patients developed gallbladder abnormalities (p = 0.008). Follow-up imaging was available for 14 of the 17 MLD patients who had gallbladder abnormalities. In 13 (93%) MLD patients with follow-up imaging, the gallbladder disease persisted or progressed. Definitive management—laparoscopic cholecystectomy or percutaneous cholecystostomy—was ultimately recommended for 3 (13%) MLD patients and 1 (2%) ALD/Krabbe patients.
Conclusion:
Children with MLD have a significantly greater incidence of gallbladder abnormalities than children with other LSDs, both prior to and after HSCT. Given these findings, children with MLD undergoing HSCT should receive gallbladder imaging pre-transplant and at regular intervals post-transplant. Laparoscopic cholecystectomy should be considered for persistent, symptomatic gallbladder abnormalities.