Abstract
A 6-year-old boy presented with 2 months history of progressive abdominal distension and jaundice. He was deeply icteric with ascites, hepatosplenomegaly, hyperbilirubinemia, raised transaminases, and coagulopathy. Viral markers and slit lamp examination for Kayser–Fleischer ring were negative. Serum ceruloplasmin and 24-h urinary copper post-D-pencillamine challenge were normal. Anti-smooth muscle antibody was positive 1:20, and liver biopsy showed micronodular cirrhosis with abundant Mallory hyaline and stainable copper deposits. The liver histology was indicative of Indian childhood cirrhosis, whereas the presence of autoantibodies, elevated transaminases, and increased globulin was suggestive of autoimmune hepatitis. Gene studies identified p.R969Q mutation in ATP7B gene, which solved the dilemma and confirmed the diagnosis of Wilson disease (WD). We report a clinicopathological conference of this boy to highlight the challenges faced by pediatricians in the diagnosis of Wilson disease. ᅟ
References
Hennes EM, Zeniya M, Czaja AJ, et al. Simplified criteria for the diagnosis of autoimmune hepatitis. Hepatology. 2008;48:169–76.
Sarin SK, Kedarisetty CK, Abbas Z, et al. Acute-on-chronic liver failure: consensus recommendations of the Asian Pacific Association for the Study of the Liver (APASL) 2014. Hepatol Int. 2014;8:453–71.
Ferri PM, Ferreira AR, Miranda DM, Simões e Silva AC. Diagnostic criteria for autoimmune hepatitis in children: a challenge for pediatric hepatologists. World J Gastroenterol. 2012;18:4470–3.
Liberal R, Vergani D, Mieli-Vergani G. Autoimmune liver disease. Pediatric Oncall [serial online] 2014;11. Art #53. Available From: http://www.pediatriconcall.com/Journal/Article/FullText.aspxartid=875&type=J&tid=&imgid=&reportid=466&tbltype=
Wilson DC, Phillips MJ, Cox DW, Roberts EA. Severe hepatic Wilson’s disease in preschool-aged children. J Pediatr. 2000;137:719–22.
EASL clinical practice guidelines. Wilson’s disease. J Hepatol. 2012;56:671–85.
Milkiewicz P, Saksena S, Hubscher SG, Elias E. Wilson’s disease with superimposed autoimmune features: report of two cases and review. J Gastroenterol Hepatol. 2000;15:570–4.
Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update AASLD practice guidelines. Hepatology. 2008;47:2089–111.
Nayak NC, Chitale AR. Indian childhood cirrhosis (ICC) & ICC-like diseases: the changing scenario of facts versus notions. Indian J Med Res. 2013;137:1029–42.
Ramakrishna B, Date A, Kirubakaran C, Raghupathy P. Atypical copper cirrhosis in Indian children. Ann Trop Paediatr. 1995;15:237–42.
Tanner MS, Portmann B. Indian childhood cirrhosis. Arch Dis Child. 1981;56:4–6.
Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease—impact on genetic testing. Hum Genet. 2006;120:151–9.
Santhosh S, Shaji RV, Eapen CE, et al. ATP7B mutations in families in a predominantly southern Indian cohort of Wilson’s disease patients. Indian J Gastroenterol. 2006;25:277–82.
Panagiotakaki E, Tzetis M, Manolaki N, et al. Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). Am J Med Genet A. 2004;131:168–73.
Reilly M, Daly L, Hutchinson M. An epidemiological study of Wilson’s disease in the Republic of Ireland. J Neurol Neurosurg Psychiatry. 1993;56:298–300.
Bachmann H, Lossner J, Kuhn HJ, Siegemund R. Occurrence, genetics and epidemiology of Wilson’s disease in East Germany. In: Czlonkowska A, van der Hamer CJA, eds. Proc. 5th. Intern. Symposium on Wilson’s disease. Technical Univ. Delft 1991. p. 121–8
Pandit A, Bavdekar A, Bhave S. Wilson’s disease. Indian J Pediatr. 2002;69:785–91.
Dhawan A, Taylor RM, Cheeseman P, De Silva P, Katsiyiannakis L, Mieli-Vergani G. Wilson’s disease in children: 37-year experience and revised King’s score for liver transplantation. Liver Transpl. 2005;11:441–8.
Kalra V, Khurana D, Mittal R. Wilson disease-early onset and lessons from a pediatric cohort in India. Indian Pediatr. 2000;37:595–601.
Bavdekar A. Wilson’s disease—a diagnostic dilemma? Indian J Gastroenterol. 2003;22:2–3.
Raju K, Bangalore GN, Thuruvekere SN, Pathavanalli VN. Wilson’s disease: a clinical autopsy case report with review of literature. J Nat Sci Biol Med. 2015;6:248–52.
Cauza E, Maier-Dobersberger T, Polli C, Kaserer K, Kramer L, Ferenci P. Screening for Wilson’s disease in patients with liver diseases by serum ceruloplasmin. J Hepatol. 1997;27:358–62.
Patra S, Vij M, Kancherala R, Samal SC. Is Indian childhood cirrhosis an extinct disease now?—an observational study. Indian J Pediatr. 2013;80:651–4.
Ferenci P, Caca K, Loudianos G. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003;23:139–42.
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Ganesh, R., Suresh, N., Vasanthi, T. et al. A 6-year-old boy with Wilson disease—A diagnostic dilemma. Indian J Gastroenterol 36, 149–154 (2017). https://doi.org/10.1007/s12664-017-0746-4
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DOI: https://doi.org/10.1007/s12664-017-0746-4