title: Massive hemobilia and papillomatosis of the gallbladder in metachromatic leukodystrophy: a life-threatening condition.
abstract: Polyposis of the gallbladder is rare during childhood. This condition can be associated with three other conditions: metachromatic leukodystrophy, Peutz-Jeghers' syndrome, and pancreaticobiliary maljunction. We report the case of a child with hemobilia in metachromatic leukodystrophy, which rendered cholecystectomy necessary. Macroscopically, the gallbladder measured 4.6 cm in length and showed an opaque serous surface and focal brown petechiae. Moreover, a yellow polypoid lesion of 2 cm in diameter and a diffuse thickening of the fundus wall were observed. Many reports describe the importance of the association of gallbladder papillomatosis with metachromatic leukodystrophy, but only three cases presented with massive intestinal bleeding, such as our young patient had. It is thus imperative that this life-threatening condition should be well known.
authors.affiliation: Clinical Genetic Unit, S. Maria Nuova Hospital, Reggio Emilia, Italy. garavelli.livia@asmn.re.it
authors.forename: L
authors.initials: L
authors.lastname: Garavelli
authors.forename: S
authors.initials: S
authors.lastname: Rosato
authors.forename: A
authors.initials: A
authors.lastname: Mele
authors.forename: A
authors.initials: A
authors.lastname: Wischmeijer
authors.forename: F
authors.initials: F
authors.lastname: Rivieri
authors.forename: C
authors.initials: C
authors.lastname: Gelmini
authors.forename: F
authors.initials: F
authors.lastname: Sandonà
authors.forename: R
authors.initials: R
authors.lastname: Sassatelli
authors.forename: G
authors.initials: G
authors.lastname: Carlinfante
authors.forename: F
authors.initials: F
authors.lastname: Giovanardi
authors.forename: M
authors.initials: M
authors.lastname: Gemmi
authors.forename: E
authors.initials: E
authors.lastname: Della Giustina
authors.forename: S
authors.initials: S
authors.lastname: Amarri
authors.forename: G
authors.initials: G
authors.lastname: Banchini
authors.forename: G
authors.initials: G
authors.lastname: Bedogni
mesh_terms: D002675:Child, Preschool; D005706:Gallbladder Neoplasms / Q000150:complications* / Q000473:pathology; D006431:Hemobilia / Q000150:complications* / Q000473:pathology; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000150:complications* / Q000473:pathology*; D008297:Male; D010212:Papilloma / Q000150:complications* / Q000473:pathology