Gallbladder cancer with ascites in a child with metachromatic leukodystrophy

نویسندگان

چکیده

IntroductionMetachromatic leukodystrophy (MLD) refers to caused by the accumulation of sulfatide from arylsulfatase A (ARSA) gene mutations. Sulfatide also accumulates in various organs, including peripheral nerves, kidney, and gallbladder.Proliferative changes gallbladder have been reported several patients, while cancer is only two adult MLD cases. We report what likely first pediatric case with cancer.Case reportThe patient was a 5-year-old girl diagnosed using head magnetic resonance imaging detecting homozygous mutation c.302G>A (p.Gly101Asp) ARSA. Abdominal bloating observed at age 4 years; CT revealed giant tumor massive ascites. Cholecystectomy performed pathological examination adenocarcinoma. Measurement serum increased levels compared average healthy range.DiscussionRapidly ascites large polyps which are as risk factors for were characteristic our case. When such lesions detected, they should be removed immediately because possibility cancer, even patient.

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ژورنال

عنوان ژورنال: Brain & Development

سال: 2021

ISSN: ['1872-7131', '0387-7604']

DOI: https://doi.org/10.1016/j.braindev.2020.08.002