高谷氏病(GD)是最常见的溶酶体贮存病之一，特征为巨噬细胞内葡糖鞘脂蓄积，且肝脏、脾脏和骨髓经常受影响。受影响的器官可以发展成类似肿瘤的病变（高谷瘤），难以诊断。我们介绍了高谷瘤及其超声特征。我们选择在罗马尼亚74名成年GD患者的定期评估期间发现的高谷瘤和它们的超声特征，时间跨越了过去五年。所有患者都接受了磁共振成像检查以进行比较。进行了所有与高谷瘤相关的文章的系统性回顾，以将我们的结果与文献进行比较。在成年患者中发现了7例高谷瘤：4例在脾脏中，2例在肝脏中，有一例影响到骨骼。未发现恶性超声特征，磁共振检查也没有。在文献中，有10篇文章报告了高谷瘤，大多数是1型GD患者的肝脏和脾脏。我们所有患者都是1型GD患者，超声方面在5年的随访中没有改变。高谷瘤可以在任何GD患者中发现。除非证明无恶性，否则必须考虑到恶性。成像特征（超声和磁共振成像）是有用的，因为组织病理学检查在所有情况下都难以获得。

Gaucher disease (GD) is one of the most common lysosomal storage diseases. It is characterized by the accumulation of glucocerebroside lipids in the macrophages, with liver, spleen and bone marrow frequently affected. The affected organs can develop tumor-like lesions (Gaucheromas), which are difficult to diagnose. We present the Gaucheromas and their ultrasonographic characteristics.We selected Gaucheromas and their ultrasonographic characteristics found in the last 5 years during the periodical evaluation of 74 adult GD patients in Romania. All the patients had magnetic resonance imaging examination for comparison. A systematic review of all the Gaucheroma-related articles was performed to compare our results with the literature.Gaucheromas were found in 7 adult patients: 4 in the spleen, 2 in the liver and one affecting the bone. No malignancy ultrasound characteristics were found and neither on MRI exams. In the literature, 10 articles reported Gaucheromas, most of them in the liver and spleen in type 1 GD patients. All our patients were also type 1 GD, and the ultrasound aspect did not change during the 5 years follow-up.Gaucheromas can be found in any patient with GD. Malignancies have to be considered unless proven otherwise. Imaging characterization (ultrasound and MRI) are useful as histopathologic examination is difficult to obtain in all cases.