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


METHODS
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.


CONCLUSIONS
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.


CONCLUSIONS
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.
Department of Hepato-Gastro-Enterology, Mongi Slim Hospital, Tunis, Tunisia; University of Tunis El Manar, Faculty of Medicine, Tunis, Tunisia. Electronic address: rym.ennaifer@yahoo.fr.
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R
Ennaifer
Department of Radiology, Mongi Slim Hospital, Tunis, Tunisia; University of Tunis El Manar, Faculty of Medicine, Tunis, Tunisia.
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L
Ben Farhat
Department of Hepato-Gastro-Enterology, Mongi Slim Hospital, Tunis, Tunisia; University of Tunis El Manar, Faculty of Medicine, Tunis, Tunisia.
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M
Cheikh
Department of Hepato-Gastro-Enterology, Mongi Slim Hospital, Tunis, Tunisia; University of Tunis El Manar, Faculty of Medicine, Tunis, Tunisia.
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H
Romdhane
Department of Radiology, Mongi Slim Hospital, Tunis, Tunisia; University of Tunis El Manar, Faculty of Medicine, Tunis, Tunisia.
Ines
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Marzouk
Department of Hepato-Gastro-Enterology, Mongi Slim Hospital, Tunis, Tunisia; University of Tunis El Manar, Faculty of Medicine, Tunis, Tunisia.
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N
Belhadj
Alagille syndrome; Case report; Cirrhosis; Focal liver hyperplasia