Diagnostic dilemmas of Wilson's disease: diagnosis and treatment. Pediatrics 1978 Jul;62(1):47-51
Date
07/01/1978Pubmed ID
683783Scopus ID
2-s2.0-0017816383 (requires institutional sign-in at Scopus site) 20 CitationsAbstract
Wilson's disease, an autosomal recessive disorder of copper metabolism, may defy diagnosis in children. The classical triad of Kayser-Fleischer rings, neurologic dysfunction, and hypoceruloplasminemia may be absent. Patients may be seen initially with acute or chronic hepatitis, hemolytic anemia, or neurologic dysfunction. Guidelines are presented for diagnosis of Wilson's disease based on a review of 25 pediatric and adolescent patients. A high index of suspicion in necessary so that therapy with penicillamine may be begun before irreversible liver or neurologic damage occurs. The prognosis is excellent when diagnosis and treatment are established early.
Author List
Werlin SL, Grand RJ, Perman JA, Watkins JBAuthor
Steven L. Werlin MD Emeritus Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Copper
Diagnosis, Differential
Female
Hemolysis
Hepatolenticular Degeneration
Humans
Liver Function Tests
Male
Penicillamine
Prognosis
