Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study
Yıl: 2021 Cilt: 41 Sayı: 4 Sayfa Aralığı: 454 - 460 Metin Dili: İngilizce DOI: 10.5336/medsci.2021-83178 İndeks Tarihi: 21-03-2022
Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study
Öz: Objective: Wilson disease is a very rare disease of copper metabolism. The objective of this study is to describe the magnetic resonance imaging (MRI) findings and to correlate the laboratory values and brain MRI findings in Wilson disease. Material and Methods: A total of 55 patients with Wilson disease and 55 normal controls underwent conventional MRI and susceptibility weighted imaging (SWI). MRI findings and laboratory findings of the patients were analyzed retrospectively. The patients were examined in 3 groups according to T1-T2 signal intensity features and in 2 groups according to the dark paramagnetic signal in SWI. Results: A total of 25 (45.4%) patients had abnormal signal intensities either on T1 or T2 sequences. The globus pallidus and the putamen were the most commonly involved localizations on T1 and T2 sequences, respectively. Eighteen patients (32.7%) had dark paramagnetic signals in the basal ganglia in SWI. Ceruloplasmin levels were low in the 90% of the patients (n=50) and 24-hour urine copper levels were found high in the 94.5% of the patients (n=52). The mean ceruloplasmin level was lower and the mean urine copper level was higher in the group with high signal intensity on T2-weighted image and in the group with darc paramagnetic signal in SWI than others. Conclusion: Although biochemical tests are used in the diagnosis of Wilson disease, additional findings are needed to confirm the diagnosis. Brain MRI findings can be helpful in the diagnosis.
Anahtar Kelime: Pediatrik Wilson Hastalarının Biyokimyasal Testleri ile Beyin Manyetik Rezonans Görüntüleme Bulgularının Korelasyonu: Bir Kohort Çalışması
Öz: Amaç: Wilson hastalığı çok nadir görülen bir bakır metabolizması hastalığıdır. Bu çalışmanın amacı, Wilson hastalığında manyetik rezonans görüntüleme (MRG) bulgularını tanımlamak ve laboratuvar değerleri ile beyin MRG bulgularını ilişkilendirmektir. Gereç ve Yöntemler: Çalışmamızda toplam 55 Wilson hastası ve 55 kontrol hastasının konvansiyonel MRG ve “susceptibility weighted imaging (SWI)” incelemeleri değerlendirildi. Hastaların MRG bulguları ve laboratuvar bulguları geriye dönük olarak incelendi. Hastalar T1-T2 ağırlıklı sekanslardaki sinyal özelliklerine göre 3 gruba ve SWI sekansındaki paramanyetik sinyal özelliğine göre 2 gruba ayrılarak incelendi. Bulgular: Toplam 25 (%45,4) hastada T1 veya T2 sekanslarında yüksek sinyal mevcuttu. Globus pallidus ve putamen, sırasıyla T1 ve T2 sekanslarda en sık tutulan bölgeydi. On sekiz hastada (%32,7) SWI görüntülerde bazal ganglionlarda paramanyetik sinyal izlendi. Hastaların %90’ında (n=50) serum seruloplazmin düzeyleri düşük iken, %94,5’inde (n=52) ise 24 saatlik idrar bakır düzeyleri yüksek bulundu. Serum seruloplazmin seviyelerinin ortalaması T2 ağırlıklı görüntülerde yüksek, sinyal intensitesi olan hastalarda ve SWI görüntülerde paramanyetik sinyal olan hastalarda daha düşük bulunurken; 24 saatlik idrar bakır seviyelerinin ortalaması T2 ağırlıklı görüntülerde yüksek, sinyal intensitesi olan hastalarda ve SWI görüntülerde paramanyetik sinyal olan hastalarda daha yüksek olarak bulundu. Sonuç: Wilson hastalığının tanısında biyokimyasal testler kullanılsa da erken dönemde tanıyı doğrulamak için ek bulgulara ihtiyaç vardır. Beyin MRG bulguları tanıda yardımcı olabilir.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
- 1. Sandahl TD, Laursen TL, Munk DE, Vilstrup H, Weiss KH, Ott P. The Prevalence of Wilson's Disease: An Update. Hepatology. 2020;71(2):722-32. [Crossref] [PubMed]
- 2. 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. [Crossref] [PubMed]
- 3. European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol. 2012;56(3):671-85. [Crossref] [PubMed]
- 4. Zhong W, Huang Z, Tang X. A study of brain MRI characteristics and clinical features in 76 cases of Wilson's disease. J Clin Neurosci. 2019;59:167-74. [Crossref] [PubMed]
- 5. Haacke EM, Cheng NY, House MJ, Liu Q, Neelavalli J, Ogg RJ, et al. Imaging iron stores in the brain using magnetic resonance imaging. Magn Reson Imaging. 2005;23(1):1-25. [Crossref] [PubMed]
- 6. 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. [Crossref] [PubMed]
- 7. Yu XE, Gao S, Yang RM, Han YZ. MR Imaging of the Brain in Neurologic Wilson Disease. AJNR Am J Neuroradiol. 2019;40(1):178-83. [Crossref] [PubMed] [PMC]
- 8. Manolaki N, Nikolopoulou G, Daikos GL, Panagiotakaki E, Tzetis M, Roma E, et al. Wilson disease in children: analysis of 57 cases. J Pediatr Gastroenterol Nutr. 2009;48(1):72- 7. [Crossref] [PubMed]
- 9. Kozić D, Svetel M, Petrović B, Dragasević N, Semnic R, Kostić VS. MR imaging of the brain in patients with hepatic form of Wilson's disease. Eur J Neurol. 2003;10(5):587-92. [Crossref] [PubMed]
- 10. Kim TJ, Kim IO, Kim WS, Cheon JE, Moon SG, Kwon JW, et al. MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation. AJNR Am J Neuroradiol. 2006;27(6):1373-8. [PubMed] [PMC]
- 11. Jha SK, Behari M, Ahuja GK. Wilson's disease: clinical and radiological features. J Assoc Physicians India. 1998;46(7):602-5. [PubMed]
- 12. van Wassenaer-van Hall HN, van den Heuvel AG, Jansen GH, Hoogenraad TU, Mali WP. Cranial MR in Wilson disease: abnormal white matter in extrapyramidal and pyramidal tracts. AJNR Am J Neuroradiol. 1995;16(10):2021-7. [PubMed] [PMC]
- 13. Zhou ZH, Wu YF, Cao J, Hu JY, Han YZ, Hong MF, et al. Characteristics of neurological Wilson's disease with corpus callosum abnormalities. BMC Neurol. 2019;19(1):85. [Crossref] [PubMed] [PMC]
- 14. Chen W, Zhu W, Kovanlikaya I, Kovanlikaya A, Liu T, Wang S, et al. Intracranial calcifications and hemorrhages: characterization with quantitative susceptibility mapping. Radiology. 2014;270(2):496-505. [Crossref] [PubMed] [PMC]
- 15. Dong Y, Wang RM, Yang GM, Yu H, Xu WQ, Xie JJ, et al. Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson's Disease. Clin Gastroenterol Hepatol. 2021;19(3):590-6. [Crossref] [PubMed]
- 16. Lau JY, Lai CL, Wu PC, Pan HY, Lin HJ, Todd D. Wilson's disease: 35 years' experience. Q J Med. 1990;75(278):597-605. [PubMed]
- 17. Giacchino R, Marazzi MG, Barabino A, Fasce L, Ciravegna B, Famularo L, et al. Syndromic variability of Wilson's disease in children. Clinical study of 44 cases. Ital J Gastroenterol Hepatol. 1997;29(2):155-61. [PubMed]
- 18. Sánchez-Albisua I, Garde T, Hierro L, Camarena C, Frauca E, de la Vega A, et al. A high index of suspicion: the key to an early diagnosis of Wilson's disease in childhood. J Pediatr Gastroenterol Nutr. 1999;28(2):186- 90. [Crossref] [PubMed]
- 19. Mittal S, Wu Z, Neelavalli J, Haacke EM. Susceptibility-weighted imaging: technical aspects and clinical applications, part 2. AJNR Am J Neuroradiol. 2009;30(2):232-52. [Crossref] [PubMed] [PMC]
- 20. Zhang W, Sun SG, Jiang YH, Qiao X, Sun X, Wu Y. Determination of brain iron content in patients with Parkinson's disease using magnetic susceptibility imaging. Neurosci Bull. 2009;25(6):353-60. [Crossref] [PubMed] [PMC]
- 21. Zhou XX, Qin HL, Li XH, Huang HW, Liang YY, Liang XL, et al. Characterizing brain mineral deposition in patients with Wilson disease using susceptibility-weighted imaging. Neurol India. 2014;62(4):362-6. [Crossref] [PubMed]
- 22. Dezortova M, Lescinskij A, Dusek P, Herynek V, Acosta-Cabronero J, Bruha R, et al. Multiparametric Quantitative Brain MRI in Neurological and Hepatic Forms of Wilson's Disease. J Magn Reson Imaging. 2020;51(6):1829-35. [Crossref] [PubMed]
- 23. Doganay S, Gumus K, Koc G, Bayram AK, Dogan MS, Arslan D, et al. Magnetic Susceptibility Changes in the Basal Ganglia and Brain Stem of Patients with Wilson's Disease: Evaluation with Quantitative Susceptibility Mapping. Magn Reson Med Sci. 2018;17(1):73-9. [Crossref] [PubMed] [PMC]
- 24. Saracoglu S, Gumus K, Doganay S, Koc G, Kacar Bayram A, Arslan D, et al. Brain susceptibility changes in neurologically asymptomatic pediatric patients with Wilson's disease: evaluation with quantitative susceptibility mapping. Acta Radiol. 2018;59(11):1380-5. [Crossref] [PubMed]
| APA | mert doğan g, Güngör Ş, Okut G, CENGİZ A, DOGAN S, VAROL F, Sığırcı A, Yilmaz S (2021). Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study. , 454 - 460. 10.5336/medsci.2021-83178 |
| Chicago | mert doğan güleç,Güngör Şükrü,Okut Gökalp,CENGİZ ASLINUR,DOGAN SAIT MURAT,VAROL FATMA,Sığırcı Ahmet,Yilmaz Sezai Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study. (2021): 454 - 460. 10.5336/medsci.2021-83178 |
| MLA | mert doğan güleç,Güngör Şükrü,Okut Gökalp,CENGİZ ASLINUR,DOGAN SAIT MURAT,VAROL FATMA,Sığırcı Ahmet,Yilmaz Sezai Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study. , 2021, ss.454 - 460. 10.5336/medsci.2021-83178 |
| AMA | mert doğan g,Güngör Ş,Okut G,CENGİZ A,DOGAN S,VAROL F,Sığırcı A,Yilmaz S Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study. . 2021; 454 - 460. 10.5336/medsci.2021-83178 |
| Vancouver | mert doğan g,Güngör Ş,Okut G,CENGİZ A,DOGAN S,VAROL F,Sığırcı A,Yilmaz S Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study. . 2021; 454 - 460. 10.5336/medsci.2021-83178 |
| IEEE | mert doğan g,Güngör Ş,Okut G,CENGİZ A,DOGAN S,VAROL F,Sığırcı A,Yilmaz S "Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study." , ss.454 - 460, 2021. 10.5336/medsci.2021-83178 |
| ISNAD | mert doğan, güleç vd. "Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study". (2021), 454-460. https://doi.org/10.5336/medsci.2021-83178 |
| APA | mert doğan g, Güngör Ş, Okut G, CENGİZ A, DOGAN S, VAROL F, Sığırcı A, Yilmaz S (2021). Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study. Türkiye Klinikleri Tıp Bilimleri Dergisi, 41(4), 454 - 460. 10.5336/medsci.2021-83178 |
| Chicago | mert doğan güleç,Güngör Şükrü,Okut Gökalp,CENGİZ ASLINUR,DOGAN SAIT MURAT,VAROL FATMA,Sığırcı Ahmet,Yilmaz Sezai Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study. Türkiye Klinikleri Tıp Bilimleri Dergisi 41, no.4 (2021): 454 - 460. 10.5336/medsci.2021-83178 |
| MLA | mert doğan güleç,Güngör Şükrü,Okut Gökalp,CENGİZ ASLINUR,DOGAN SAIT MURAT,VAROL FATMA,Sığırcı Ahmet,Yilmaz Sezai Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study. Türkiye Klinikleri Tıp Bilimleri Dergisi, vol.41, no.4, 2021, ss.454 - 460. 10.5336/medsci.2021-83178 |
| AMA | mert doğan g,Güngör Ş,Okut G,CENGİZ A,DOGAN S,VAROL F,Sığırcı A,Yilmaz S Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study. Türkiye Klinikleri Tıp Bilimleri Dergisi. 2021; 41(4): 454 - 460. 10.5336/medsci.2021-83178 |
| Vancouver | mert doğan g,Güngör Ş,Okut G,CENGİZ A,DOGAN S,VAROL F,Sığırcı A,Yilmaz S Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study. Türkiye Klinikleri Tıp Bilimleri Dergisi. 2021; 41(4): 454 - 460. 10.5336/medsci.2021-83178 |
| IEEE | mert doğan g,Güngör Ş,Okut G,CENGİZ A,DOGAN S,VAROL F,Sığırcı A,Yilmaz S "Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study." Türkiye Klinikleri Tıp Bilimleri Dergisi, 41, ss.454 - 460, 2021. 10.5336/medsci.2021-83178 |
| ISNAD | mert doğan, güleç vd. "Correlation of the Brain Magnetic Resonance Imaging Findings with Biochemical Assays of the Pediatric Wilson Disease Patients : A Cohort Study". Türkiye Klinikleri Tıp Bilimleri Dergisi 41/4 (2021), 454-460. https://doi.org/10.5336/medsci.2021-83178 |
