Document Type : Case Report
Authors
Department of Pediatrics, Clinical Research Development Unit, Shool of Medicine, Shahrekord University of Medical Science, Shahrekord, Iran
Abstract
Background: Wilson’s disease (WD) and alkaptonuria (AKU) are genetic diseases.
Case Report: A 12-year-old boy presented with tremors, dysarthric drooling, poor school performance, and dark urine. Neurologic examination showed ataxia and Kayser-Fleischer (KF) rings in the eye examination. Black pigment deposits were observed in the subconjunctival area and on the sclera. Brain magnetic resonance imaging (MRI) indicated high signal intensity in the basal ganglia and head of the caudate nucleus of both sides in T2WI serum ceruloplasmin. Pathogenic homozygous variants were reported in whole exome sequencing for WD and AKU.
Discussion: There is diagnostic complexity of overlapping metabolic disorders, including WD and AKU, in a pediatric patient with neurological and systemic symptoms. Genetic testing and biochemical analyses played a critical role in identifying pathogenic abnormalities.
Conclusion: Rare genetic diseases such as WD and AKU can happen simultaneously.
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Main Subjects
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