RT Journal Article
SR Electronic
T1 Behavioural and psychiatric disorders in paediatric Wilson’s disease
JF BMJ Case Reports
FD BMJ Publishing Group Ltd
SP bcr0520114249
DO 10.1136/bcr.05.2011.4249
VO 2011
A1 Francisco Silva
A1 Susana Nobre
A1 António P Campos
A1 Mónica Vasconcelos
A1 Isabel Gonçalves
YR 2011
UL http://casereports.bmj.com/content/2011/bcr.05.2011.4249.abstract
AB An 11-year-old boy was treated since 6-years-old with methylphenidate for combined attention deficit and hyperactivity disorder. At age nine his behaviour had worsened and he started to have phobias. One year later persistent hypertransaminasemia was found. Physical examination showed a dysdiadocokinesia. Laboratory investigation revealed a low caeruloplasmin and augmented basal urinary copper with a positive postpenicillamine test. Liver biopsy showed high liver copper (853 µg/g) and brain MRI was normal. D-penicillamine and zinc acetate were started without side effects. ATP7B gene mutation was confirmed after treatment initiation.