背景:这项研究介绍了一名3岁的高雪氏病(GD)男孩,他接受了酶替代疗法(ERT)治疗19个月,然后发展为多发性葡萄膜瘤。同时进行文献综述。
方法:回顾医学图表和文献。一个15个月大的男孩贫血,血小板减少症,和肝脾肿大.通过酶测定和基因突变证实了GD。诊断后立即进行ERT。当男孩3岁的时候,在常规检查腹部MRI和活检显示Gaucheroma期间发现多个肿块。我们还回顾了20例患有Gaucheroma和Gaucher细胞浸润性淋巴结病的GD患者。
结论:Gaucheroma是定期治疗的GD患者的罕见疾病。该患者甚至对加倍的ERT剂量表现出较差的反应。Gaucher患者需要进行影像学检查以检测Gaucheroma并确定其恶性程度。建议对所有GD患者进行定期检查,即使进行常规治疗,由于变化可能恶化,比如Gaucheroma.
BACKGROUND: This study presented a 3 years old boy with Gaucher disease (GD) who was treated with enzyme replacement therapy (ERT) for 19 months and then developed multiple Gaucheroma.
Review of literature was performed simultaneously.
METHODS: The medical chart and literature were reviewed. A boy presented at the age of 15 months with anemia, thrombocytopenia, and hepatosplenomegaly. GD was confirmed by enzyme assay and gene mutations. ERT was administered right after the diagnosis. When the boy was 3 years old, multiple masses were discovered during a regular checkup abdominal MRI and biopsy revealed Gaucheroma. We also reviewed 20 GD patients with Gaucheroma and Gaucher cell infiltrated lymphadenopathies.
CONCLUSIONS: Gaucheroma is a rare condition of regularly treated GD patients. This patient even showed poor response to doubled ERT doses. The imaging studies are necessary for Gaucher patients to detect Gaucheroma and determine their malignancy. Regular checkups are recommended in all GD patients even with regular treatment, due to the possibility of having deteriorating change, like Gaucheroma.