Massive Hemobilia and Papillomatosis of the Gallbladder in Metachromatic Leukodystrophy: A Life-Threatening Condition

Garavelli, Livia; Rosato, Susan; Mele, Alessandra; Wischmeijer, A.; Rivieri, F.; Gelmini, Chiara; Sandonà, F; Sassatelli, R.; Carlinfante, Gabriele; Giovanardi, F.; Gemmi, Mauro; Giustina, Elvio Della; Amarri, Sergio; Banchini, G; Bedogni, G.

doi:10.1055/s-0030-1248246

Cited by 20 publications

(10 citation statements)

References 5 publications

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“…The disease relentlessly progresses and eventually all acquired skills are lost. [9][10][11][12][13] One of our patients with MLD died at the age of 32 years of metastatic gallbladder carcinoma, a neoplasm usually occurring at an average age of 56 to 63 years. 4 Both aim at halting or preventing the neurodegenerative process.…”

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confidence: 95%

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy

et al. 2016

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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.

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confidence: 95%

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy

et al. 2016

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“…In some cases, the gallbladder mucosal papillomatosis was accompanied by massive hemorrhage, which can be life threatening and resolved by cholecystectomy [8][9][10]. Radiographic evidence of gastrointestinal tract papillomatosis involving the stomach pylorus and the duodenum has been reported and can cause intestinal obstruction and even intussusception [9].…”

Section: Discussionmentioning

confidence: 99%

Metachromatic Leukodystrophy and Its Effects on the Gallbladder: A Case Report

Rodriguez‐Waitkus

Byrd

Hicks

2011

Ultrastructural Pathology

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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.

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“…Less well known is the occurrence of intestinal bleeding in this context. Recently, a child with hemobilia was reported who required cholecystectomy [18]. Caution regarding this lifethreatening condition is necessary.…”

Section: Gi Issuesmentioning

confidence: 99%