ArticleBMJ case reports2018
An unusual presentation of gall bladder papillomatosis in association with metachromatic leukodystrophy.
Article in BMJ case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.
- Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.Cytotherapy · 2024Guideline
- Gallbladder mucinous carcinoma in a child with metachromatic leukodystrophy, case report and literature review.BMC pediatrics · 2026Review
- Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach.Journal of inherited metabolic disease · 2025Article
- Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan.Molecular genetics and metabolism · 2025Article
- Safety and Efficacy of Intravenous and Intrathecal Delivery of AAV9-Mediated ARSA in Minipigs.International journal of molecular sciences · 2023Article
- Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches.Frontiers in medicine · 2020Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 5-year-old boy with metachromatic leukodystrophy, debilitated by spastic quadriparesis presented to us with massive ascites and respiratory distress. A subtotal cholecystectomy was performed on him from another centre for a gall bladder mass a year before he came to us. Imaging revealed a polypoidal frond-like mass arising from the gall bladder fossa which was supplied by a hypertrophied branch of the right hepatic artery. A decision was made to offer surgical resection preceded by embolisation of the feeding vessel. At surgery, a polypoidal frond-like mass in communication with the peritoneal cavity was seen arising from the remnant gall bladder bed with over 4 L of mucoid ascites. The mass along with the remnant gall bladder was removed. Biopsy revealed villous papilloma of the gall bladder. The child is well and asymptomatic at 5-month follow-up.
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