Early Onset of Wilson Disease - Diagnostic Challenges.

Objectives: To analyze the clinical presentations, diagnosis and treatment of patients aged 100 [mu]g/day. Liver copper quantification was >250 [mu]g/g dry weight in 16 patients. The most common mutation was p.H1069Q, with compound heterozygosity in five patients and homozygosity in nine. Sixteen patients were treated with zinc salts and five with D-penicillamine. Both treatments were effective, with no serious side effects observed after 3-24 months. Conclusions: WD can present as early as 2 years of age. Because biochemical tests may be less sensitive in very young children, diagnoses may require a combination of tests. If molecular tests are inconclusive, liver copper content should be measured. (C) 2017 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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