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

Background: Wilson disease is an inherited disorder in which excessive amount ofcopper accumulates in various tissues of the body. Clinical features related to copperdeposition in the liver may appear in the first and second decades followed byneurologic and psychiatric thereafter; however, many patients have a combinationof these symptoms.Case: We report a case of 11 year-old girl, admitted to Wad Medani PediatricTeaching Hospital with generalized body swellings for four days. Initial investigationsshowed proteinuria and hypoalbuminemia, thought to be due to nephrotic syndrome.Days later, patient developed jaundice and neuropsychiatric manifestations. A slitlamb examination confirmed the presence of Kayser–Fleischer ring (KF ring) andshe scored high in the scoring system for the diagnosis of Wilson disease. Dpenicillaminetreatment therapy was started and unfortunately the patient’s clinicalcondition deteriorated gradually, and eventually went into deep coma and died. Wilsondisease mainly affects the liver, but the initial presentation was completely compatiblewith nephrotic syndrome.Conclusion: Diagnosis of Wilson disease should be suspected in a child presentingwith generalized body swellings even in the absence of clinical evidence of hepaticand/or neuropsychiatric involvements.Keywords: Wilson disease, nephrotic syndrome, case report, pediatrics, Suda