Published date: Jun 30 2021

Journal Title: Sudan Journal of Medical Sciences

Issue title: Sudan JMS: Volume 16 (2021), Issue No. 2

Pages: 196–206

DOI: 10.18502/sjms.v16i2.9288

Mumen Abdalazim DafallahMumenabdalazim36@gmail.comFaculty of Medicine, University of Gezira, Sudan

Elsanosi HabourWad Medani Pediatric Teaching Hospital, Wad Medani, Sudan

Esraa Ahmed RagabFaculty of Medicine, University of Gezira, Sudan

Zahraa Mamoun ShoukFaculty of Medicine, University of Gezira, Sudan

Fawzeia HamadWad Medani Pediatric Teaching Hospital, Wad Medani, Sudan

Musaab AhmedCenter of Medical and Bio-allied Health Sciences Research, College of Medicine, Ajman University, Ajman, United Arab Emirates

Mohamed H. AhmedDepartment of Medicine and HIV Metabolic Clinic, Milton Keynes University Hospital NHS Foundation Trust, Eaglestone, Milton Keynes, Buckinghamshire, UK

Background: Wilson disease is an inherited disorder in which excessive amount of copper accumulates in various tissues of the body. Clinical features related to copper deposition in the liver may appear in the first and second decades followed by neurologic and psychiatric thereafter; however, many patients have a combination of these symptoms.

Case: We report a case of 11 year-old girl, admitted to Wad Medani Pediatric Teaching Hospital with generalized body swellings for four days. Initial investigations showed proteinuria and hypoalbuminemia, thought to be due to nephrotic syndrome. Days later, patient developed jaundice and neuropsychiatric manifestations. A slit lamb examination confirmed the presence of Kayser–Fleischer ring (KF ring) and she scored high in the scoring system for the diagnosis of Wilson disease. Dpenicillamine treatment therapy was started and unfortunately the patient’s clinical condition deteriorated gradually, and eventually went into deep coma and died. Wilson disease mainly affects the liver, but the initial presentation was completely compatible with nephrotic syndrome.

Conclusion: Diagnosis of Wilson disease should be suspected in a child presenting with generalized body swellings even in the absence of clinical evidence of hepatic and/or neuropsychiatric involvements.

Keywords: Wilson disease, nephrotic syndrome, case report, pediatrics, Sudan

[1] Chaudhry, H. S. and Anilkumar, A. C. (n.d.). Wilson Disease [Updated 2020, Aug 10]. Treasure Island, FL: StatPearls Publishing. Retrieved from: https://www.ncbi.nlm.nih.gov/books/NBK441990/


[2] Hedera, P. (2019). Wilson’s disease: a master of disguise. Parkinsonism & Related Disorders, vol. 59, pp. 140–145.


[3] European Association for Study of Liver. (2012). EASL Clinical Practice Guidelines: Wilson’s disease. Journal of Hepatology, vol. 56, no. 3, pp. 671–685.


[4] Nicastro, E., Ranucci, G., Vajro, P., et al. (2010). Re-evaluation of diagnostic criteria for Wilson’s disease in children. Hepatology, vol. 52, no. 6, pp. 1948–1956.


[5] Yachha, S. K., Sharma, B. C., Khanduri, A., et al. (1997). Current spectrum of hepatobiliary disorders in northern India. Indian Pediatrics, vol. 34, no. 10, pp. 885–890.


[6] Saito, T. (1987). Presenting symptoms and natural history of Wilson disease. European Journal of Pediatrics, vol. 146, pp.261–265.


[7] Dumas, M., Girard, P. L., Jacquin-Cotton, L., et al. (1970) 1st case of Wilson’s disease in Senegal. Bulletin de la Société médicale d’Afrique noire de langue française, vol. 15, no. 1, pp. 96–99.


[8] Esezobor, C.I., Banjoko, N., Rotimi-Samuel, A., et al. (2012). Wilson disease in a Nigerian child: a case report. Journal of Medical Case Reports, vol.6, article no. 200. Retrieved from: https://doi.org/10.1186/ 1752-1947-6-200


[9] Dusek, P., Litwin, T., and Członkowska, A. (2019). Neurologic impairment in Wilson disease. Annals of Translational Medicine, vol. 7, no, 2, p. S64.


[10] Ortiz, J., Morillo Cox, Á., Tambo, W., et al. (2020). Neurological manifestations of Wilson’s disease: pathophysiology and localization of each component. Cureus, vol. 12, no. 11, e11509.


[11] Pandey, N. and John, S. (2020). Kayser-Fleischer Ring. Treasure Island, FL: StatPearls Publishing.


[12] Joshi, G., Dhingra, D., Tekchandani, U., et al. (2019). Kayser-Fleischer ring in Wilson’s disease. QJM: An International Journal of Medicine, vol. 112, no. 8, p. 629.


[13] Członkowska, A., Litwin, T., and Chabik, G. (2017). Wilson disease: neurologic features. In A. Członkowska and M. L. Schilsky (Eds.),Handbook of Clinical Neurology(Vol. 142, pp. 101–119). Science Direct.


[14] Wiggelinkhuizen, M., Tilanus, M. E., Bollen, C. W., et al. (2009). Systematic review: clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease. Alimentary Pharmacology & Therapeutics, vol. 29, no. 9, pp. 947–958.


[15] Ukuoka, N., Morita, S., Hamatani, S., et al. (2002). [Appropriate administration schedule of D-penicillamine for pediatric Wilson’s disease patients based on urinary copper excretion]. YakugakuZasshi, vol. 122, no. 8, pp. 585–588.


[16] Ranucci, G., Di Dato, F., Spagnuolo, M.I., et al. (2014). Zinc monotherapy is effective in Wilson’s disease patients with mild liver disease diagnosed in childhood: a retrospective study. Orphanet Journal of Rare Diseases, vol.9, p. 41