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

中文翻译：

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异染性脑白质营养不良儿童的胆囊癌伴腹水

引言 异染性脑白质营养不良 (MLD) 是指由芳基硫酸酯酶 A (ARSA) 基因突变产生的硫苷脂积累引起的脑白质营养不良。硫脂也会积聚在各种器官中，包括周围神经、肾脏和胆囊。几名患者报告了胆囊的增殖性变化，而胆囊癌仅在两个成人 MLD 病例中报告。我们报告了可能是第一例患有胆囊癌的 MLD 儿科病例。病例报告 该患者是一名 5 岁女孩，使用头部磁共振成像并检测到 ARSA 中 c.302G>A (p.Gly101Asp) 的纯合突变，被诊断为 MLD。在 4 岁时观察到腹胀；CT显示胆囊中有一个巨大的肿瘤和大量的腹水。进行了胆囊切除术，病理检查显示为腺癌。血清硫苷脂的测量显示与平均健康范围相比水平升高。讨论 快速增加的腹水和大息肉被报告为癌症的危险因素是我们 MLD 病例的特征。当检测到此类病变时，即使在儿科患者中，也应立即切除，因为存在癌症的可能性。