Kirchner Gabriele I, Wagner Siegfried, Flemming Peer, Bleck Joerg S, Gebel Michael, Schedel Ingolf, Schüler Andreas, Galanski Michael, Manns Michael P
Department of Gastroenterology, Medical School of Hannover, Germany.
Am J Gastroenterol. 2002 Oct;97(10):2664-9. doi: 10.1111/j.1572-0241.2002.06051.x.
Here, we describe a 20-yr-old woman with COACH syndome (hypoplasia of Cerebellar vermis, Oligophrenia, congenital Ataxia, Coloboma, and Hepatic fibrosis) developing multiple liver lesions. Epigastric and right upper abdominal pain and lack of appetite led to clinical evaluation. Liver function tests showed an increase in transaminases and cholestatic parameters; alpha-fetoprotein was in the normal range. Ultrasound and magnetic resonance imaging examinations revealed multiple liver lesions. Histological examinations of ultrasonographically guided biopsies were consistent with regenerative hepatic nodules without features of malignant or dysplastic cells. The sizes of these tumors did not change over a period of 12 months. Our report presents the 10th case of COACH syndrome with a hitherto undescribed association with hepatic tumors.
在此,我们描述了一名患有COACH综合征(小脑蚓部发育不全、智力发育迟缓、先天性共济失调、缺损畸形和肝纤维化)的20岁女性,她出现了多个肝脏病变。上腹部和右上腹疼痛以及食欲不振促使进行临床评估。肝功能检查显示转氨酶和胆汁淤积参数升高;甲胎蛋白在正常范围内。超声和磁共振成像检查发现多个肝脏病变。超声引导下活检的组织学检查结果与再生性肝结节一致,无恶性或发育异常细胞特征。这些肿瘤的大小在12个月内没有变化。我们的报告呈现了第10例COACH综合征病例,该病例与肝肿瘤存在迄今未被描述的关联。