title: Metachromatic leukodystrophy and its effects on the gallbladder: a case report.
abstract: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulfatase A enzyme. This deficiency leads to accumulation of sulfatides in the central nervous system and other organs, such as the gallbladder. Here the authors discuss a 9-year-old Middle Eastern patient with late-infantile-type MLD who presented with symptoms of cholecystitis. Radiographic studies revealed an enlarged gallbladder with a thickened wall and a pericholecystic fluid collection with peripheral calcifications. Gross examination of the gallbladder showed multiple small to medium-sized papillary projections involving the entire mucosal surface. Sections through the gallbladder wall revealed multilocular dilated mucin-producing cystic spaces. Microscopically, the mucosa showed numerous papillary projections with complex folds lined by mucin-producing cuboidal to tall columnar cells. The cystic spaces were composed of numerous markedly distended Rokitansky-Aschoff sinuses filled with mucin. Ultrastructurally, the epithelial cells and macrophages showed frequent secondary lysosomes containing closely packed lamellar amorphous to prismatic material with alternating leaflets and tubules, imparting a "herringbone" or "tuffstone" pattern. This case illustrates the features of gallbladder involvement in MLD and the potential role of ultrastructural examination in diagnosis of MLD.
authors.affiliation: Department of Pathology & Immunology, Baylor College of Medicine and Texas Children's Hospital, 6621 Fannin Street, Houston, TX 77030, USA.
authors.forename: Paul M
authors.initials: PM
authors.lastname: Rodriguez-Waitkus
authors.forename: Robert
authors.initials: R
authors.lastname: Byrd
authors.forename: John
authors.initials: J
authors.lastname: Hicks
mesh_terms: D002278:Carcinoma in Situ / Q000175:diagnosis / Q000209:etiology; D002648:Child; D002758:Cholangiography / Q000379:methods; D002764:Cholecystitis / Q000175:diagnosis / Q000209:etiology; D004847:Epithelial Cells / Q000473:pathology; D005704:Gallbladder / Q000473:pathology* / Q000648:ultrastructure / Q000002:abnormalities; D005705:Gallbladder Diseases; D005706:Gallbladder Neoplasms / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D008247:Lysosomes / Q000473:pathology; D008264:Macrophages / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D009092:Mucous Membrane / Q000473:pathology; D013194:Staining and Labeling; D014057:Tomography, X-Ray Computed