Psychological presentations without hepatic involvement in Wilson disease.
Wilson disease is an autosomal recessive inborn error of copper metabolism that leads to neurologic symptoms and variable degrees of hepatic damage. The most common characteristic signs clinically are liver disease, psychiatric disease, neurologic disease, or a combination of these. Early recognition by means of clinical signs and an early initiation of therapy using chelators or zinc-salts are essential for a good outcome and prognosis. This report describes a male suffering from Wilson disease who exhibited an unusual presentation that included psychological manifestations without hepatic involvement. He was initially treated for attention-deficit hyperactivity disorder and a seizure disorder until brain imaging established the diagnosis of Wilson disease.
Lin
Jainn-Jim
JJ
Division of Pediatric Neurology, Department of Pediatrics, Chang Gung Children's Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan. lincgh@adm.cgmh.org.tw
Lin
Kuang-Lin
KL
Wang
Huei-Shyong
HS
Wong
Mun-Ching
MC
D001289:Attention Deficit Disorder with Hyperactivity / Q000175:diagnosis / Q000188:drug therapy / Q000523:psychology*; D001921:Brain / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002648:Child; D003300:Copper / Q000652:urine; D003937:Diagnosis, Differential; D004292:Dominance, Cerebral / Q000502:physiology; D004359:Drug Therapy, Combination; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000188:drug therapy / Q000523:psychology*; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000188:drug therapy / Q000523:psychology*; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000523:psychology*; D008111:Liver Function Tests; D008279:Magnetic Resonance Imaging; D008297:Male; D010396:Penicillamine / Q000627:therapeutic use; D011889:Rage / Q000187:drug effects / Q000502:physiology*; D025101:Vitamin B 6 / Q000627:therapeutic use; D017967:Zinc Compounds / Q000627:therapeutic use
D017967:Zinc Compounds; D003300:Copper; D025101:Vitamin B 6; D010396:Penicillamine