Atypical case of Wilson's disease with psychotic onset, low 24 hour urine copper and the absence of Kayser-Fleischer rings
Abstract
Introduction. Wilson's disease is typically manifested in two clinical forms, neurological and hepatic and in rare cases it starts with psychiatric symptoms exclusively. We presented a rare atypical case of Wilson's disease with psychotic onset. Case report. A 22-year-old male patient was initially presented with predominant signs and symptoms of psychiatric disorder and then later with the development of neurological signs and symptoms. Neuroimaging, detected metal deposits in central nervous system (CNS) but not in peripheral organs, while serum analysis excluded pantothenate-kinase associated neurodegeneration and aceruloplasminemia. In favor of the diagnosis of Wilson's disease there were reduced concentrations of copper and ceruloplasmin concentrations and metal deposits in CNS, but other pathognomonic signs and symptoms were absent: increased copper in urine, Kayser-Fleischer rings in Descemet’s corneal membrane and deposits of copper in liver. Introduction of penicillamine treatment resulted in improvement in mental and general health of the patient. Molecular genetic analysis definitely confirmed the diagnosis of Wilson's disease. Conclusion. Wilson's disease can remain undetected for a long period of time if masked with dominant or exclusive psychiatric symptoms. If clear clinical symptoms and signs, and unambiguous laboratory findings are not present, it is necessary to perform molecular genetic analysis to confirm the definitive diagnosis.
References
Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 1912; 34: 395–509.
Tomić A, Dobricić V, Novaković I, Svetel M, Pekmezović T, Kresojević N, et al. Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with wilson's disease in ser-bia. Vojnosanit Pregl 2013; 70(5): 457−62.
Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet 2006; 120(2): 151−9.
Houwen RH, van Hattum J, Hoogenraad TU. Wilson disease. Neth J Med 1993; 43(1−2): 26-37.
Scheinberg IH, Sternlieb I. Wilson's disease. In: Smith LH, editor. Major problems in internal medicine. Philadelphia, PA: WB Saunders; 1984. p. 25–35.
Ferenci P. Wilson's disease. Ital J Gastroenterol Hepatol 1999; 31(5): 416−25.
Schmidt HH. Role of genotyping in Wilson's disease. J Hepatol 2009; 50(3): 449−52.
Reilly M, Daly L, Hutchinson M. An epidemiological study of Wilson's disease in the Republic of Ireland. J Neurol Neuro-surg Psychiatr 1993; 56(3): 298−300.
Loudianos G, Kostic VS, Solinas P, Lovicu M, Dessi V, Svetel MV, et al. Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia. Genet Test 2003; 7(2): 107−12.
Ferenci P. Review article: diagnosis and current therapy of Wil-son's disease. Aliment Pharmacol Ther 2004; 19(2): 157−65.
Dong Q, Wu Z. Advance in the pathogenesis and treatment of Wilson disease. Transl Neurodegener 2012; 1(1): 23.
Youn J, Kim JS, Kim H, Lee J, Lee PH, Ki C, et al. Characteristics of neurological Wilson's disease without Kayser-Fleischer ring. J Neurol Sci 2012; 323(1−2): 183−6.
Benhamla T, Tirouche YD, Abaoub-Germain A, Theodore F. The onset of psychiatric disorders and Wilson's disease. Encephale 2007; 33(6): 924−32. (French)
Srinivas K, Sinha S, Taly AB, Prashanth LK, Arunodaya GR, Ja-nardhana RY, et al. Dominant psychiatric manifestations in Wilson's disease: a diagnostic and therapeutic challenge. J Neurol Sci 2008; 266(1−2): 104−8.
Akil M, Schwartz JA, Dutchak D, Yuzbasiyan-Gurkan V, Brewer GJ. The psychiatric presentations of Wilson's disease. J Neu-ropsychiatry Clin Neurosci 1991; 3(4): 377−82.
Mak CM, Lam C. Diagnosis of Wilson's disease: a comprehensive review. Crit Rev Clin Lab Sci 2008; 45(3): 263−90.
Roberts EA, Schilsky ML; American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology 2008; 47(6): 2089−111.
Jukić I, Titlić M, Tonkić A, Dodig G, Rogosić V. Psychosis and Wilson's disease: a case report. Psychiatr Danub 2006; 18(1−2): 105−7.
Bidaki R, Zarei M, Mirhosseini SM, Moghadami S, Hejrati M, Koh-navard M, et al. Mismanagement of Wilson's disease as psy-chotic disorder. Adv Biomed Res 2012; 1: 61.
Miyajima H. Aceruloplasminemia, an iron metabolic disorder. Neuropathology 2003; 23(4): 345−50.
Walshe JM. Penicillamine: the treatment of first choice for patients with Wilson's disease. Mov Disord 1999; 14(4): 545−50.
Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003; 23(3): 139−42.
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