Psikiyatrik semptomlarla başvuran bir nörowilson olgusu

Wilson Hastalığı 13. kromozomun q14.3'teki genin mutasyonu sonucu oluşan bir bakır metabolizması bozukluğudur. Genç yaşta siroz tanısı alan hastalarda nörolojik ve psikiyatrik semptomların birlikte görülmesi Wilson hastalığını düşündürmelidir. Bu bildiride K.T.Ü. Tıp Fakültesi Çocuk Psikiyatrisi Polikliniği'ne başvuran 13 yaş 9 aylık bir erkek çocukta, Çocuk Nörolojisi bölümü ile ortak değerlendirme sonucu nörowilson tanısı konuldu. Erken tanının prognozu etkilemesi, geç kalındığında hastalığın fatal seyri ve pek çok hastada tanıda karışıklıklara yolaçabilen psikiyatrik semptomlarla kendini gösterebilmesi nedeni ile olgunun sunulması uygun bulundu.

A case of neurowilson presenting with psychiatric symptoms

Wilson disease is a copper metabolism disorder due to 13 q 14.3 gene mutation. If the both neurological and psychiatric symptoms are observed together in the patients diagnosed as cirrhosis in early age, Wilson disease should be considered. In this case report, 13 years 9 months boy, who applied to K.T.U. Child Psychiatry Deparment with psychiatric symptoms and diagnosed as Neurowilson after having evaluated by both Pediatric Neurology and Child Psychiatry deparments is presented. Because of that the early diagnosis effects prognosis of the disease otherwise it will be fatal, and in many patient diagnosis may complicated by manifestations with psychiatric symptoms, the case has been approved to present.

Kaynakça

1. Frydman M, Bonne-Tamir B, Farrer LA: Assingment of the gene for Wilson's disease to chromosome 13: Linkage to the esterase D locus. Proc Natl AcadSci USA 82: 1819- 1821, 1985. 2. Bull PC, Cox DW: Wilson disease and Menkes disease: new handles on heavy- mental transport. Trends Genet 10:246- 252, 1994. 3. Phung LT, Aylanı G, Haselkorn R: P-type ATP'ase from the Cyanobacterium synechococcus 7942 related to the human Menkes and Wilson disease gene products. Proc Natl Acad Sci USA 91: 9651-9654, 1994. 4. Ferenci P: Wilson's disease. Ital J Gastroenterol Hepatol 31:416-425, 1999.

5. Schoen RE, Sternlieb I: Clinical aspects of Wilson disease. Am J Gastroenterol 85: 1453-1457, 1990. 6. Miiller J, Landgraf F, Trabert W: Schizophrenia-like symptoms in the Westpal- Strum pell variation of Wilson's disease. Nervenarzt 69:264-268,1998.

7. Topaloğlu H, Gücüyener K, Orkun C: Tremor of tongue and dysarthria as the sole manifes tation of Wilson's disease. Clin Neurol Neurosurg 92:295-296, 1990. 8. Gilles L , Raymond D, Adams MA: Neurology of hereditary metabolic diseases of children. 1996, pp. 199-205., 9. Dening TR, Berrios GE: Wilson's disease a longitudinal study of psychiatric symtoms. Biol Psychiatry 28: 255-265, 1990. \ "' 10. Lang C, Muller D, Claus D: Neuropsychologiqal findings in treated Wilson's disease. Acta Neurol Scand 81:75- 81, 1990. 11. Rodman R, Burnstine M, Esmaeli B.¬ Wilson's disease presymtomatic patients and Kayser-Fleischer rings. Ophthalmic Genet 188:79-85, 1997. 12. Song HS, Ku WC, Chen CL: Disappearence of Kayser-Flei seher rings following liver transplantation. Transplant Proc 24: 1483-1485,1992. 13. Larrauri J, Jara P: A high index of suspicion: the key to an early diagnosis of Wilson's disease in childhood. J Pediatr Gastroenterol Nutr 28:186-190,1999. 14. Lewis RA, Falls HF, Troyer DO: Oculer manifestation of hypercupremia associated with multiple myeloma. Arch Ophthalmol 93: 1050-1055, 1975. 15. Fleming CR, Dickson ER, Wahner HW: Pigmented corneal rings in non-Wilsonian liver disease. Ann Intern Med 86:285-287, 1978.

16. Herron BE: Wilson's disease. Ophthalmic Semin 1:63-69, 1999. 17. Smolarek C, Stremmel F: Therapy of Wilson disease. J Gastroenterol 37:293- 300,1999.

18. Goww PJ, Smaltwood RA, Angus PW: Diagnosis of Wilson's disease: an experience over three decades. Gut 46:415- 419, 2000. 19. Ludwing J, Mayer TP, Rakela J: The liver biopsy diagnosis of Wilson's disease, methods in pathology. Am J Clin Pathol 102: 443-446, 1994. ' 20. Shokeir MHK: Investigation on the nature of ceruloplasmin deficiency in the newborn. Clin Genet 2:223-227, 1971. 21. Menerey KA, Eider W, Brewer GJ: The artropathy of Wilson's disease: clinical and pathologic features. J Rheum 15:331- 337,1988.

22. Chowrimootoo GFE, Scowcroft H, Seymour CA: Ceruloplasmin isoforms in Wilson's disease in neonates. Arch Dis Child Fetal Neonatal Ed 79: 198-201,1998. 23. Farrer LA, Banne-Tamir B, Frydman M, Magazarik A: Predicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's disease. Hum Genet 79:109-117, 1988. 24. Starosta-Rubinstein S, Young AB, Kuin K: Clinical assessment of 31 patients with Wilson's disease : correlations with structural changes on magnetic resonance imaging. Arch Neurol 44: 365-370, 1987. 25. Van Wassenaer-Van Hall HN, Van der Heuvel AG, Jansen GH: Cranial MR in Wilson's disease : abnormal white matter in extrapyramidal and pyramidal tracts. Am J Neuroradiolo 16: 2021-2027, 1995. 26. Saatçi I, Topçu M, Baltaoğlu FF, Köse G, Yalaz K, Renda Y: Cranial MR findings in Wilson's disease. Acta Radiologica 38:250- 258, 1997. 27. Walshe JM: Penisillamine: anew oral therapy for Wilson's disease. Am J med 21: 487-495, 1996. 28. Brewer GJ: Pratical recommendations and new therapies for Wilson's disease. Drugs 50: 240-249, 1995. 29. Brewer GJ, Turgay A, Yuzbaziyan GV: Development of neurological symptoms in a patient with asymptomatic Wilson's disease treated with penisillamine. Arch Neurol 51: 304-305, 1994.

30. Brewer GJ: Penicillamine should not be used as initial therapy in Wilson's disease. Mov Disorder 14: 551-554,1999. 31. Brewer GJ, Dick RD, Johnson VD, Brunberg JA: Treatment of Wilson's disease with zinc: long-term follow up studies. J Lab Clin Med 132: 264-278, 1998. 32. Brewer GJ, Yuzbasiyan GV, Young AB: The treatment of Wilson's disease. Semin Neurol 7: 209-220, 1987.

33. Walshe JM: Penisillamine: The treatment of first choice for patients with Wilson's disease. Mov Disord 14 545-550, 1999. 34. Walshe JM: Treatment of Wilson's disease: the historical background. Quart J Med 89: 553-555, 1996.

35. Dahlman T, Hartving P, Lofholm M: Long- term treatmant of Wilson disease with triethylene tetramine dihydrochloride (trientine) QJMed 88:609-616, 1995. 36. Nawras K, Doris TH, Thomas MR: Wilson's disease. South Med J 90: 535-538, 1997. 37. Taneli S, Akova H, Taneli B, Bayrak A, Memik F, Gürel S: Psikiyatrik semptomlarla başvuran iki Wilson olgusu. 10. Ulusal Çocuk ve Ergen Psikiyatrisi Kongresi Bildiri Özetleri Kitabı, Sarıgerme, 2000, s.51-52

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