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A High Index of Suspicion: The Key to an Early Diagnosis of Wilson's Disease in Childhood

Sánchez-Albisua, Icíar; Garde, Teresa; Hierro, Loreto; Camarena, Carmen; Frauca, Esteban; de la Vega, Angela; Díaz, María Carmen; Larrauri, Javier; Jara, Paloma

Journal of Pediatric Gastroenterology & Nutrition: February 1999 - Volume 28 - Issue 2 - pp 186-190
Original Articles

Background: To study the clinical features of Wilson's disease in childhood.

Methods: Retrospective review of the clinical, laboratory, and histologic features 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 years), was prompted by liver dysfunction detected accidentally (61%), symptoms of liver disease (27%), family screening (8%), and extrapyramidal symptoms and personality changes (4%). There were laboratory data of hepatic failure 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 diagnosis had severe liver disease. Histologic findings were portal fibrosis with 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 transplantation, three of them having received penicillamine for 12, 45, and 70 days. Three other patients recovered from liver failure after 1 year of treatment with penicillamine. After a follow-up of 4.5 ± 3.3 years, all the children survived. Penicillamine caused severe toxicity in one patient.

Conclusions: Wilson's disease in childhood is generally detected by maintaining a high suspicion of liver disease in patients who have no or nonspecific hepatic symptoms. Kayser-Fleischer ring is rare in childhood. Drug therapy is effective and well tolerated even in some cases of hepatic insufficiency.

Hepatology Unit, University Children's Hospital "La Paz," Madrid, Spain

Address correspondence and reprint requests to P. Jara Vega, Unidad de Hepatología Infantil, Hospital Infantil "La Paz," P. Castellana, 261, Madrid 28046, Spain.

Received January 20, 1998; revised April 28, 1998; accepted September 3, 1998.

© 1999 Lippincott Williams & Wilkins, Inc.