14800-DvRappard

150 Chapter 9 Table 2 . Demographic characteristics of patient cohort Characteristic Patients (n= 34) Age (mean, median, range) at US in years 16.7, 13 (2-39) Sex- no. (%) Male 15 (44.1) Female 19 (55.8) Received HSCT- no. (%) 13 (38.2) MLD type- no. (%) Late-infantile 4 (11.8) Juvenile 22 (64.7) Adult 8 (23.5) One patient had (asymptomatic) gallstones. Sludge was seen in 12 (35%) patients, one of whom was transplanted. Increased thickness of the gallbladder wall up to 9mm (normal ≤ 3mm) 17,18 was seen in 10 (29%) patients. Eight patients (24%) had polyps with a diameter exceeding 5 mm in 6 patients, with a maximum of 13 mm (table1). Four (12%) patients had a small, collapsed gallbladder with a thickened wall. In this situation, polyps could not be ruled out. Laparoscopic cholecystectomy was performed in 11 patients (32%). Indications for cholecystectomy (table 3) were polyps ≥ 5mm visible on ultrasound (n=5), impossibility to exclude polyps due to thickening of the gallbladder wall (n=4), severe biliary colics (n=1) and recurrent pancreatitis (n=1) (table 3). In the patient with recurrent pancreatitis, these episodes stopped after removal of the gallbladder, inwhich gallstones were found. One patient with advanced early-juvenile MLD had sludge and a thickened gallbladder wall with episodes of severe, biliary colics that ceased after cholecystectomy. There were no complications directly related to the procedure. Pathology Table 3 and figure 2 give an overview of histopathological findings in the 12 patients (11 + the index patient). In patient MLD-49, our index patient, histopathology was reviewed and revealed a poorly differentiated adenocarcinoma. The gallbladder wall was infiltrated by a proliferation of highly atypical epithelial cells arranged in small glands and strings, and there was evidence of perineural invasion (figure 2P). There were no cholesterol polyps.