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. 2016:25:55-61.
doi: 10.1016/j.ijscr.2016.03.032. Epub 2016 Jun 4.

Focal liver hyperplasia in a patient with Alagille syndrome: Diagnostic difficulties. A case report

R Ennaifer  1 , L Ben Farhat  2 , M Cheikh  3 , H Romdhane  3 , Ines Marzouk  2 , N Belhadj  3
Affiliations

Focal liver hyperplasia in a patient with Alagille syndrome: Diagnostic difficulties. A case report

R Ennaifer et al. Int J Surg Case Rep. 2016.

Abstract

Introduction: 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.

Presentation of case: 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.

Discussion: 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.

Conclusion: 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.

Keywords: Alagille syndrome; Case report; Cirrhosis; Focal liver hyperplasia.

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Figures

Fig. 1
Fig. 1
Liver ultrasonogram; large mass of the segment 4 isoechoic to the parenchyma.
Fig. 2
Fig. 2
Enhanced CT scan axial images (2a: arterial phase 2b: portal phase). Pseudonodular hypertrophy of the segment 4 of the liver isointense. Normal vasculature of the liver is showed through the mass.
Fig. 3
Fig. 3
(a) T2 weigthed MRI axial image; a mass-like segment 4 of the liver isointense to the parenchyma. (b) T2 weighted MRI coronal image; important hypotrophic left liver lobe.
Fig. 4
Fig. 4
Arterial phase enhanced MRI; the pseudomass is slightly enhanced.
Fig. 5
Fig. 5
Portal phase enhanced MRI; the pseudomass is isointense. Ascitis and necrotic foci of spleen are present.
Fig. 6
Fig. 6
Liver ultrasonogram one year later: stable appearance of the mass.
See this image and copyright information in PMC

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