@article {67352, title = {Acute hemolytic anemia as an initial presentation of Wilson disease in children.}, journal = {Journal of pediatric hematology/oncology}, volume = {36}, year = {2014}, note = {n/a}, month = {2014 Apr}, pages = {173-8}, abstract = {

BACKGROUND: Wilson disease (WD) is an inherited disorder of copper metabolism. Hemolytic anemia in WD occurs in up to 17\% of patients at some point during their illness.

AIM: To screen for WD among children presenting with hemolytic anemia.

METHODOLOGY: Twenty cases (mean age, 8.8 {\textpm} 3.9 y) with Coombs-negative hemolytic anemia, attending the hematology clinic of children hospital, Cairo University, were screened for WD by serum ceruloplasmin level, 24 hours urinary copper before and after D-penicillamine challenge test, and slit-lamp examination for detecting Kayser-Fleischer rings.

RESULTS: No case had low ceruloplasmin, whereas bilateral Kayser-Fleischer rings was detected in 5\% of our cases. Urinary copper was elevated in 5\% before and in 40\% after D-penicillamine challenge test. According to the scoring system used, 1 case had definite WD and 7 cases were likely to have WD. These 8 (40\%) cases were referred to as group B. Group B had a significantly lower hemoglobin, mean corpuscular volume, mean corpuscular hemoglobin, and reticulocytes (P=0.04, 0.001, 0.04, and 0.04, respectively) and a significantly higher urinary copper after penicillamine (P=0.000) when compared with group A (unlikely WD).

CONCLUSION: WD is not uncommon in children with hemolytic anemia after exclusion of other common causes.

}, keywords = {Acute Disease, Adolescent, Anemia, Hemolytic, Ceruloplasmin, Chelating Agents, Child, Child, Preschool, Cohort Studies, Diagnosis, Differential, Female, Follow-Up Studies, Hepatolenticular Degeneration, Humans, Liver Function Tests, Male, Penicillamine, Prognosis}, issn = {1536-3678}, doi = {10.1016/j.dsx.2013.10.008}, author = {El Raziky, Mona S and Ali, Amal and El Shahawy, Amira and Mona M. Hamdy} }