Ennaifer R, Ben Farhat L, Cheikh M, Romdhane H, Marzouk Ines, Belhadj N
Department of Hepato-Gastro-Enterology, Mongi Slim Hospital, Tunis, Tunisia; University of Tunis El Manar, Faculty of Medicine, Tunis, Tunisia.
Department of Radiology, Mongi Slim Hospital, Tunis, Tunisia; University of Tunis El Manar, Faculty of Medicine, Tunis, Tunisia.
Int J Surg Case Rep. 2016;25:55-61. doi: 10.1016/j.ijscr.2016.03.032. Epub 2016 Jun 4.
Alagille syndrome is a multisystem autosomal disorder. The main clinical features are chronic cholestasis due to paucity of intrahepatic bile ducts, which can progress to cirrhosis and liver failure.
A 15 year-old girl with Alagille syndrome was referred for liver transplantation. She developed severe cirrhosis with refractory ascites. In the pre-transplant evaluation, imaging studies disclosed liver atrophy with a high density pseudotumor in the segment 4, raising the possibility of a hepatocellular carcinoma. However, behavior of the lesion was highly suggestive of focal compensatory hyperplasia surrounded by an atrophic liver. The patient was registered on the waiting list.
Hepatic lesions have been described in Alagille syndrome in isolated case reports, and most of these have been reported to be hepatocellular carcinoma. However, they can be related to an area of focal compensatory hyperplasia in severe cirrhosis. These findings may also explain why progression of liver disease occurs only in 15% of patients.
The presence of a large hepatic nodule Alagille syndrome can be benign in these patients also predisposed to hepatocellular carcinoma. Therefore, cautious evaluation with magnetic resonance imaging study before liver transplantation is mandatory.
阿拉吉尔综合征是一种多系统常染色体疾病。主要临床特征是由于肝内胆管稀少导致的慢性胆汁淤积，可进展为肝硬化和肝衰竭。
一名15岁患有阿拉吉尔综合征的女孩被转诊进行肝移植。她出现了严重的肝硬化并伴有难治性腹水。在移植前评估中，影像学检查显示肝脏萎缩，在肝段4有一个高密度假瘤，增加了肝细胞癌的可能性。然而，该病变的表现高度提示为被萎缩肝脏包围的局灶性代偿性增生。该患者被列入等待名单。
在孤立的病例报告中描述了阿拉吉尔综合征中的肝脏病变，其中大多数报告为肝细胞癌。然而，它们可能与严重肝硬化中的局灶性代偿性增生区域有关。这些发现也可以解释为什么只有15%的患者会出现肝病进展。
在这些也易患肝细胞癌的患者中，阿拉吉尔综合征中出现的大肝脏结节可能是良性的。因此，肝移植前必须用磁共振成像研究进行谨慎评估。
