Massive hepatomegaly with jaundice as a main presenting feature of Cystic Fibrosis

Year 2012, Volume: 4 Issue: 3, 1 - 5, 17.08.2012

Aco Kostovski Nikolina Zdraveska , Stojka Fustik Sonja Bojadzieva

Abstract

Cystic fibrosis (CF) is a recessively inherited disease caused by mutations of the CF
transmembrane conductance regulator (CFTR) gene. Patients classically present with evidence of pulmonary disease, malabsorption secondary to pancreatic insufficiency and high sweet chloride concentration. CF has can also be associated with a veriable phenotype which remains a diagnostic challenge.
We report a case of a 2 year old girl with CF who initially presented with massive hepatomegaly and jaundice and was firstly suspected of a liver tumor. There was no personal or family history suggestive for CF. The diagnosis of CF liver disease was made after the results of the liver biopsy, sweat test analysis and confirmed with the existence of pathogenic mutation in the CFTR gene.
Hepatomegaly and steatosis are known complications of CF but very uncommon as presenting features that lead to the diagnosis of CF. This report emphasizes the difficulty and importance of diagnosing cystic fibrosis in unusual patients.

Keywords

hepatomegaly, steatosis, jaundice, CF liver disease

References

• 1- Davis PB. Cystic fibrosis since 1938. Am J Respir Crit Care Med 2006; 173:475–482.
• 2- Colombo C, Russo MC, Zazzeron L, Romano G. Liver disease in cystic fibrosis. J Pediatr Gastroenterol Nutr 2006, 43(Suppl 1):S49-55.
• 3- Colombo C. Liver disease in cystic fibrosis. Curr Opin Pulm Med. 2007 Nov;13(6):529-36.
• 4- Shapira R, Hadzic R, Francavilla R, et al. Retrospective review of cystic fibrosis presenting as infantile liver disease. Arch Dis Child 1999;81:125-8.
• 5- Diwakar V, Pearson L, Beath S (2001) Liver disease in children with cystic fibrosis. Paediatr Respir Rev 2:340–349.
• 6- Lindblad A, Glaumann H, Strandvik B. Natural history of liver disease in cystic fibrosis. Hepatology 1999; 30:1151–1158.
• 7- Chen AH, Innis SM, Davidson GF, Jill James S. Phosphatidylcholine and lysophosphatidyl-choline excretion is increased in children with cystic fibrosis and is associated with plasma homocysteine, Sadenosylhomocysteine, and S- adenosylmethionine. Am J Clin Nutr 2005; 81:686–691.
• 8- Wilroy Jr RS, Crawford SE, Johnson WW. Cystic fibrosis with extensive fat replacement of the liver. J Pediatr. 1966; 68:67-73.
• 9- Treem WR, Stanley CA. Massive hepatomegaly, steatosis and secondary plasma carnitine deficiency in an infant with cystic fibrosis. Pediatrics. 1989;83:933-997.
• 10- Collardeau-Frachon S, Bouvier R, Le Gall C, Rivet C, Cabet F, Bellon G, Lachaux, Scoazec JY. Unexpected diagnosis of cystic fibrosis at liver biopsy: a report of four pediatric cases. Virchows Arch. 2007 Jul;451(1):57-64.