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Wilson Disease Presenting as Opsoclonus-Myoclonus Syndrome

2021; Springer International Publishing; Linguagem: Inglês

10.1007/978-3-030-75898-1_26

2524-4043

Philippe A. Salles, Valentina Besa-Lehmann, Carolina Pelayo-Varela, Prudencio Lozano‐Iraguen, Hubert H. Fernandez, Andrés de la Cerda,

Infectious Encephalopathies and Encephalitis

Wilson disease (WD) is a rare autosomal recessive inborn error of copper metabolism, caused by mutations in ATP7B which encodes a transmembrane copper-transporting ATPase. This leads to copper overload in the liver, brain, cornea, and other tissues, often presenting with a hepatolenticular syndrome. Hepatic dysfunction varies from mild asymptomatic transaminase elevation to acute fulminant hepatic failure. The most frequent neurological manifestations include dysarthria, dystonia, tremor, parkinsonism, choreoathetosis, and ataxia. Probably the most prototypical findings are wing-beating tremor, risus sardonicus, and Kayser-Fleischer (KF) rings seen on slit lamp examination. In the midbrain a “face of a giant panda” sign can be seen in the MRI of some WD patients. The diagnosis can be challenging because of its protean manifestations. According to the European Association for the Study of the Liver (EASL) guidelines, based on the Leipzig Score, the combination of typical clinical symptoms plus KF rings and a serum ceruloplasmin level less than 0.1 g/L is sufficient to establish the diagnosis. However, when this triad is not fulfilled, it is often necessary to perform a liver biopsy or genetic testing. Early diagnosis and treatment are critical as they may prevent serious disability and life-threatening complications. The aim of treatment is to remove the accumulated copper and prevent further copper accumulation. Trientine and D-penicillamine are first-line chelators for the treatment of WD, although both are associated with several adverse events that require close monitoring.