胃肠道和消化系统

抽象的

Febrile Syndrome as a First Clinical Manifestation of Wilson Disease

Marisol Galvez-Martínez, Alfredo I. Servín-Caamaño, Eduardo Pérez-Torres and Fátima Higuera-de la Tijera

Wilson disease (WD) is a rare autosomal recessive genetic disorder associated with copper metabolism. ATP7B protein function is reduced or absent. The classical clinical presentation with positivity for Kayser-Fleischer rings, neurological and hepatic manifestations is not the rule. About half of the patients presenting liver disease may have atypical clinical manifestations and do not possess two of the three classical criteria.

Presentation of case: A 36 year-old male with atypical WD clinical presentation characterized by febrile syndrome and jaundice as the predominant manifestations of the disease.