https://www.ncbi.nlm.nih.gov/pubmed/28753182
J Pediatr Gastroenterol Nutr. 2017 Jul 27. doi: 10.1097/MPG.0000000000001700.

Wiernicka A1, Dądalski M, Jańczyk W, Kamińska D, Naorniakowska M, Hüsing-Kabar A, Schmidt H, Socha P.

Abstract

OBJECTIVES:
To analyze the clinical presentations, diagnosis and treatment of patients aged ≤ 5 years with early onset Wilson disease (WD).

METHODS:
Data from 143 pediatric patients with WD treated at our center between January 1996 and November 2015 were retrospectively analyzed.

RESULTS:
A review of the 143 pediatric patients with WD identified 21 (10 girls, 11 boys) with first symptoms or abnormal liver function test results at age ≤5 years. The diagnosis of WD was confirmed in eight patients younger than 5 years. At baseline the mean serum alanine aminotransferase level was 222 U/l and the mean serum aspartate aminotransferase level was 130 U/l. The mean serum ceruloplasmin concentration in 16 tested patients was <20 mg/dl. Of the 15 patients who underwent urinary copper excretion testing, eight had levels between 40 and 100 μg/day, with only four having levels > 100 μg/day. Liver copper quantification was >250 μg/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.