A high index of suspicion: The key to an early diagnosis of Wilson's disease in childhood

Background: To study the clinical features of Wilson' s disease in childhoo d. Methods: Retrospective review of the clinical, laboratory, and histologic f eatures and prognosis of Wilson's disease in 26 Spanish children. Results: The first medical visit, at age 9.8 +/- 3.4 years (range, 4-16 yea rs), was prompted by liver dysfunction detected accidentally (61%), symptom s of liver disease (27%), family screening (8%), and extrapyramidal symptom s and personality changes (4%). There were laboratory data of hepatic failu re in 27%. All copper metabolism test results (total serum copper, 24-hour urine excretion, serum ceruloplasmin) were abnormal in 62%, two in 27%, and one in 11%. All patients in whom extrahepatic involvement was found at dia gnosis had severe liver disease. Histologic findings were portal fibrosis w ith steatosis (29%), cirrhosis (21%), portal fibrosis (17%), chronic active hepatitis (17%), and minimal changes or normality (17%). Penicillamine was administered to all but one patient. Four children underwent liver transpl antation, three of them having received penicillamine for 12, 45, and 70 da ys. Three other patients recovered from liver failure after 1 year of treat ment with penicillamine. After a follow-up of 4.5 +/- 3.3 years, all the ch ildren survived. Penicillamine caused severe toxicity in one patient. Conclusions: Wilson's disease in childhood is generally detected by maintai ning a high suspicion of liver disease in patients who have no or nonspecif ic hepatic symptoms. Kayser-Fleischer ring is rare in childhood. Drug thera py is effective and well tolerated, even in some cases of hepatic insuffici ency.