Focal liver hyperplasia in a patient with Alagille syndrome: Diagnostic difficulties. A case report.
Focal liver hyperplasia in a patient with Alagille syndrome: Diagnostic difficulties. A case report.
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DOI：
10.1016/j.ijscr.2016.03.032
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发表时间：
2016
影响因子：
0.6
通讯作者：
Belhadj N
中科院分区：
文献类型：
--
作者：
Ennaifer R;Ben Farhat L;Cheikh M;Romdhane H;Marzouk I;Belhadj N
Alagille综合征很少报告肝脏病变。大多数被描述为肝细胞癌。局灶性肝脏增生也可能是局灶性病变的原因。磁共振成像特征可以可靠地区分它们。Alagille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缺乏而导致的慢性胆汁淤积，其可进展为肝硬化和肝功能衰竭。一名15岁的女孩与Alagille综合征被称为肝移植。她出现了严重的肝硬化和顽固性腹水。在移植前评估中，影像学研究显示肝萎缩伴4段高密度假瘤，提高了肝细胞癌的可能性。然而，病变的表现高度提示萎缩肝脏周围的局灶性代偿性增生。病人登记在等候名单上。Alagille综合征的肝脏病变在孤立病例报告中有描述，其中大多数被报告为肝细胞癌。然而，它们可能与严重肝硬化的局灶性代偿性增生有关。这些发现也可以解释为什么肝病进展仅发生在15%的患者中。在这些易患肝细胞癌的患者中，存在大的肝结节Alagille综合征可能是良性的。因此，肝移植前必须通过磁共振成像研究进行谨慎评估。
Hepatic lesions have been infrequently reported in Alagille syndrome. Most of them have been described as hepatocellular carcinoma. Focal liver hyperplasia can also be a cause of focal lesion. Magnetic resonance imaging features can reliably differentiate them. 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.