Rare Presentation of Wilson Disease in an 11-year-old Sudanese Girl

Mumen  Abdalazim Dafallah; Elsanosi  Habour; Esraa  Ahmed Ragab; Fawzeia  Hamad; Musaab  Ahmed; Mohamed  H. Ahmed

doi:10.52981/sjms.v16i2.1115

Mumen Abdalazim Dafallah University of Gezira
Elsanosi Habour Wad Medani Pediatric Teaching Hospital, Wad Medani
Esraa Ahmed Ragab Faculty of Medicine, University of Gezira
Fawzeia Hamad Wad Medani Pediatric Teaching Hospital, Wad Medani
Musaab Ahmed 3Center of Medical and Bio-allied Health Sciences Research, College of Medicine
Mohamed H. Ahmed Medicine and HIV Metabolic Clinic, Milton Keynes University Hospital NHS Foundation Trust, Eaglestone, Milton Keynes, Buckinghamshire,

DOI: https://doi.org/10.52981/sjms.v16i2.1115

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

Abstract

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.

References

[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 & RelatedDisorders, 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 criteriafor 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 ofhepatobiliary 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. EuropeanJournal of Pediatrics, vol. 146, pp. 261–265.
[7] Dumas, M., Girard, P. L., Jacquin-Cotton, L., et al. (1970) 1st case of Wilson’s diseasein 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 aNigerian 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 Wilsondisease. Annals of Translational Medicine, vol. 7, no, 2, p. S64.
[10] Ortiz, J., Morillo Cox, Á., Tambo, W., et al. (2020). Neurological manifestations ofWilson’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: StatPearlsPublishing.
[12] Joshi, G., Dhingra, D., Tekchandani, U., et al. (2019). Kayser-Fleischer ring in Wilson’sdisease. QJM: An International Journal of Medicine, vol. 112, no. 8, p. 629.
[13] Członkowska, A., Litwin, T., and Chabik, G. (2017). Wilson disease: neurologicfeatures. 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 administrationschedule of D-penicillamine for pediatric Wilson’s disease patients based on urinarycopper excretion]. YakugakuZasshi, vol. 122, no. 8, pp. 585–588.
[16] Ranucci, G., Di Dato, F., Spagnuolo, M. I., et al. (2014). Zinc monotherapy is effectivein Wilson’s disease patients with mild liver disease diagnosed in childhood: aretrospective study. Orphanet Journal of Rare Diseases, vol. 9, p. 41