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