Wilson disease. A case report and review of the literature
Main Article Content
Keywords
Hepatolenticular degeneration, Adolescent, Ceruloplasmin
Abstract
Background: Wilson disease is a problem of cuprum metabolism, with recesive autosomic hereditary transmission and a prevalence of one in 30 000 habitants. The cuprum is deposit in a progressive and irreversible way in the liver and encephalus and it is not liberated with quelant treatment. Neurological manifestations are tremor, disartria, extrapiramidal manifestations or distonia. Ophtalmic exploration shows corneal limb with sign of Kayser-Fleischer.
Clinical case: a 15-year-old masculine patient with previous hepatitis outbreak in two times. During the last year he presented distonia, bradicinecious, stiffness and indifference with ictericia. Ophthalmological examination reported Kayser-Fleisher rings. Magnetic resonance of brain showed high dense images in lenticular, pallidus globe and caudate nucleus suggestive of Wilson disease. Ceruloplasmin concentration, cuprum in the liver biopsy confirmed the diagnosis.
Conclusions: the importance of the case was the hepatic initial manifestations and two years after presented with inexpressive face, and it was considered a psychiatric disease, but the neurological evaluation and the liver biopsy confirmed the diagnosis of Wilson disease.
References
Ye S, Gong L, Shui QX, Zhou LF. Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients. World J Gastroenterol 2007;13 (38):5147-5150.
Schmidt HH. Introducing single-nucleotide polymorphism markers in the diagnosis of Wilson disease. Clin Chem 2007;53(9):1568-9. Disponible en http://www.clinchem. org/cgi/content/full/53/9/1568
Eisenbach C, Sieg O, Stremmel W, Encke J, Merle U. Diagnostic criteria for acute liver failure due to Wilson disease. World J Gastroenterol 2007;13(11):1711-1714. Disponible en http://www.wjgnet.com/1007-9327/full/v13/i11/1711.htm
Kucinskas L, Jeroch J, Vitkauskiene A, Sakalauskas R, Petrenkiene V, Kucinskas V, et al. High prevalence of c.3207C>A(p.H1069Q) mutation in ATP7B gene of Lithua-nian patients with hepatic presentation of Wilson’s disease. World J Gastroenterol 2008;14(38): 5876-5879. Disponible en http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751898/?tool=pubmed
Solís-Muñoz P, Solís-Herruzo JA. Wilson’s disease. A rare thought present condition. Rev Esp Enferm Dig 2008;100 (8):447-455. Disponible en http://www.gru poaran.com/mrmUpdate/lecturaPDFfromXML.asp?IdArt=460729&TO= RVN&Eng=1
Santosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, Finny P, Thomas N, et al. Genotype phenotype correlation in Wilson’s disease within families—a report on four south Indian families. World J Gastroenterol 2008;14(29):4672-4676. Disponible en http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2738792/?tool=pubmed
Kucinskas L, Jeroch J, Vitkauskiene A, Sakalauskas R, Petrenkiene V, Kucinskas V, et al. High prevalence of c.3207C>A(p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson´s disease. World J Gastroenterol 2008;14(38): 5876-5879. Disponible en http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751898/?tool=pubmed
Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet 2006;120(2):151-159.
Roberts EA, Sarkar B. Liver as a key organ in the supply, storage, and excretion of copper. Am J Clin Nutr 2008; 88(3):851S-854S.
Houwen RH. Copper: two sides of the same coin. Neth J Med 2008;66(8):325-326.
Rodrigo-Agudo JL, Valdés-Mas M, Vargas-Acosta AM, Ortiz-Sánchez ML, Gil-del Castillo ML, Carballo-Álvarez LF. Clinical presentation, diagnosis, and long-term outcome of 29 patients with Wilson’s disease. Rev Esp Enferm Dig 2008; 100(8):456-461. Disponible en http://www.grupoaran.com/mrmUpdate/lecturaPDFfromXML.asp?IdArt=460730&TO= RVN&Eng=
Brewer GJ. Recognition, diagnosis, and management of Wilson’s disease. Proc Soc Exp Biol Med 2000;223(1):39-46.
Roberts E. Schilsky ML; Division of Gastroenterology and Nutrition, Hospital for Sick Children, Toronto, Ontario, Canada. A practice guideline on Wilson disease. Hepatology 2003;37(6):1475-1492.
Eisenbach C, Sieg O, Stremmel W, Encke J, Merle U. Diagnostic criteria for acute liver failure due to Wilson disease. World J Gastroenterol 2007;13(11):1711-1714. Disponible en http://www.wjgnet.com/1007-9327/full/v13/i11/1711.htm
Brewer GJ. Neurologically presenting Wilson’s disease: epidemiology, pathophysiology and treatment. CNS Drugs 2005;19(3):185-192.
Eghtesad B, Nezakathou N, Geraci LC, Jabbour N, Irish WD, Marsh W, et al. Liver transplantation for Wilson’s disease: a single-center experience. Liver Transpl Surg 1999;5(6):467-474.
Gollan JL, Gollan TJ. Wilson’s disease in 1998: genetic, diagnosis, and therapeutic aspects. J Hepatol 1998;28(Supl 1):28-36.
Scheinberg IH, Jaffe ME, Sternlieb I. The use of trientine in preventing the effects of interrumpting penicillamine therapy in Wilson’s disease. N Engl J Med 1987;317(4):2009-2013.
Brewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, et al. Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Arch Neurol 2006; 63(4):521-527. Disponible en http://archneur.ama-assn.org/cgi/content/full/63/4/521
Bortolotti F, Calzia R, Vegnente A, Cadrobbi P, Rugge M, Armigliato M, et al. Chronic hepatitis in childhood: the spectrum of the disease. Gut 1988;29(5):659-664.