TY - JOUR
T1 - Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy
AU - van Rappard, Diane F.
AU - Bugiani, Marianna
AU - Boelens, Jaap J.
AU - van der Steeg, Alida F. W.
AU - Daams, Freek
AU - de Meij, Tim G. J.
AU - van Doorn, Martine M. A. C.
AU - van Hasselt, Peter M.
AU - Gouma, Dirk J.
AU - Verbeke, Jonathan I. M. L.
AU - Hollak, Carla E. M.
AU - van Hecke, Wim
AU - Salomons, Gajja S.
AU - van der Knaap, Marjo S.
AU - Wolf, Nicole I.
AU - van der Steeg, Aldia
AU - van der Knaap, Margo
PY - 2016/7/5
Y1 - 2016/7/5
N2 - Objectives:To assess frequency of gallbladder polyposis and carcinoma in metachromatic leukodystrophy (MLD).Methods:We evaluated 34 patients with MLD (average age 16.7 years, age range 2-39 years) screened for gallbladder abnormalities by ultrasound. In the case of cholecystectomy, findings at pathology were reviewed.Results:Only 8 of 34 patients (23%) had a normal gallbladder at ultrasound. Gallbladder polyps were visible in 8 patients (23%). Cholecystectomy was performed in 11 patients (32%). In these, pathology revealed various abnormalities, including hyperplastic polyps, intestinal metaplasia, prominent Rokitansky-Aschoff sinuses, and sulfatide storage.Conclusions:Our results demonstrate that gallbladder involvement is the rule rather than the exception in MLD. The high prevalence of hyperplastic polyps, a known precancerous condition, and one death from gallbladder carcinoma at a young age suggest that MLD predisposes to neoplastic gallbladder abnormalities. As novel therapies for this patient group are emerging leading to increased life expectancy, we recommend screening for gallbladder abnormalities by ultrasound in order to prevent early death
AB - Objectives:To assess frequency of gallbladder polyposis and carcinoma in metachromatic leukodystrophy (MLD).Methods:We evaluated 34 patients with MLD (average age 16.7 years, age range 2-39 years) screened for gallbladder abnormalities by ultrasound. In the case of cholecystectomy, findings at pathology were reviewed.Results:Only 8 of 34 patients (23%) had a normal gallbladder at ultrasound. Gallbladder polyps were visible in 8 patients (23%). Cholecystectomy was performed in 11 patients (32%). In these, pathology revealed various abnormalities, including hyperplastic polyps, intestinal metaplasia, prominent Rokitansky-Aschoff sinuses, and sulfatide storage.Conclusions:Our results demonstrate that gallbladder involvement is the rule rather than the exception in MLD. The high prevalence of hyperplastic polyps, a known precancerous condition, and one death from gallbladder carcinoma at a young age suggest that MLD predisposes to neoplastic gallbladder abnormalities. As novel therapies for this patient group are emerging leading to increased life expectancy, we recommend screening for gallbladder abnormalities by ultrasound in order to prevent early death
U2 - https://doi.org/10.1212/WNL.0000000000002811
DO - https://doi.org/10.1212/WNL.0000000000002811
M3 - Article
C2 - 27261095
SN - 0028-3878
VL - 87
SP - 103
EP - 111
JO - Neurology
JF - Neurology
IS - 1
ER -