14800-DvRappard

148 Chapter 9 Case report A 20-year-old male (MLD-49 in table 1) was diagnosed with the adult type of MLD and received two years later an HSCT from an HLA-identical unrelated donor. The procedure was performed without complications. 16 At the time of transplantation his disease was already advanced: he had memory loss and behavioral changes, but his motor function was intact. He remained neurologically stable after HSCT during the entire follow up period. Nine years after the procedure, he presented with severe acute pain in the right upper abdomen. Ultrasound revealed dilatation of the intrahepatic and extrahepatic bile ducts and cholelithiasis. A large concrement in the cystic duct was seen on CT scan. Cytology of the endoscopic brushing revealed atypical cells suggesting adenocarcinoma. A cholecystectomy with bile duct resection and reconstruction with a hepaticojejunostomy was performed after microscopic pathology during the procedure was suspicious of malignancy. Definitive histological examination revealed adenocarcinoma. Five months later, a control CT scan showed ascites and two lesions in the liver. A biopsy revealed metastasis of the gallbladder carcinoma. Because of the poor prognosis of metastatic disease and neurological impairment as a consequence of his MLD, palliative care was provided. He died 2 months later, 7 months after the diagnosis of gallbladder carcinoma. METHODS At the Center for White Matter Disorders, VU University Medical Center, we follow almost all Dutch patients with MLD. Diagnosis of MLD was established by brain MRI, measurement of arylsulfatase A activity, which was in the disease range for all patients, and ARSA mutation analysis. After our index patient was diagnosed with gallbladder carcinoma, we added gallbladder ultrasound to the routine clinical care of all MLD patients. Six patients had already undergone gallbladder ultrasound for symptoms such as biliary colic, abdominal pain or vomiting. Twenty-six patients had not reported abdominal symptoms when they were screened with ultrasound at one of their routine follow-up appointments or at diagnosis. An experienced (pediatric) radiologist at the VU Medical Center performed ultrasound of the gallbladder in 30 cases; 4 patients were examined in 2 other centers. All examinations were carried out after at least 4 hours of fasting to ensure an optimally filled gallbladder. When polyps were detected, their maximal diameter was measured.