From the Department of Child Neurology, Center for Childhood White Matter Disorders and Neuroscience Campus Amsterdam (D.F.v.R.,M.S.v.d.K., N.I.W.), Department of Pathology, Center for Childhood White Matter Disorders (M.B.), and Departments of Surgery (F.D.), Pediatric Gastroenterology (T.G.J.d.M.), and Radiology (M.M.A.C.v.D., J.I.M.L.V.), VU University Medical Center Amsterdam; Department of Pediatrics, Blood and Marrow Transplantation Program (J.J.B.), and Departments of Metabolic Disorders (P.M.v.H.) and Pathology (W.v.H.), University Medical Center Utrecht; Pediatric Surgical Center of Amsterdam (A.F.W.v.d.S.), Emma Children's Hospital Academic Medical Center and VU University Medical Center Amsterdam; Department of Surgery (D.J.G.), and Department of Internal Medicine, Division of Endocrinology and Metabolism (C.E.M.H.), Academic Medical Center Amsterdam; and Department of Clinical Chemistry (G.S.S.), VU Medical Center and Neuroscience Campus Amsterdam, the Netherlands.
Neurology. 2016 Jul 5;87(1):103-11. doi: 10.1212/WNL.0000000000002811. Epub 2016 Jun 3.
To assess frequency of gallbladder polyposis and carcinoma in metachromatic leukodystrophy (MLD).
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.
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.
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.
评估黏脂贮积症（MLD）患者胆囊息肉和癌的发生频率。
我们通过超声检查评估了 34 名 MLD 患者（平均年龄 16.7 岁，年龄范围 2-39 岁）的胆囊异常情况。在进行胆囊切除术的情况下，回顾了病理学检查结果。
仅 34 名患者中的 8 名（23%）超声检查胆囊正常。8 名患者（23%）可见胆囊息肉。11 名患者（32%）进行了胆囊切除术。在这些患者中，病理学检查显示出各种异常，包括增生性息肉、肠上皮化生、罗基坦斯基-阿什霍夫窦明显和硫酸脑苷脂储存。
我们的研究结果表明，在 MLD 中，胆囊受累是常见而非例外。增生性息肉的高发率（已知的癌前病变）以及一例年轻患者死于胆囊癌，提示 MLD 易发生肿瘤性胆囊异常。由于新兴的治疗该患者群体的新疗法可提高预期寿命，因此我们建议通过超声筛查胆囊异常，以预防早期死亡。
