Neuropsychiatric Presentation of Wilson Disease in an Adolescent Male

Case Report

A 13-year-old boy was admitted to the child psychiatric unit in the setting of an emotional outburst and suicidal ideation. He presented with 1 year of mood changes, academic failure, dysarthria, diplopia, clumsiness, and easy bruising. Examination showed moderate dysarthria, writhing tongue movements, mild bilateral end gaze limitation, Kayser–Fleischer rings ([Video 1]), and splenomegaly. Brain magnetic resonance imaging showed T2 prolongation in the putamina, midbrain, pons, and cerebellar peduncles ([Fig. 1]). He was found to have compensated hepatic cirrhosis with portal hypertension and grade II esophageal varices. Laboratory studies demonstrated leukopenia (1,700/µL; normal: 4,000–10,500/µL), thrombocytopenia (38,000/µL; normal: 165,000–335,000/µL), hypoceruloplasminemia (7 mg/dL; normal: 22–47 mg/dL), hypocupremia (0.48 µg/mL; normal: 0.75–1.45 µg/mL), hypercupriuria (214 µg/24 hours; normal 15–60 µg/24 hours), and homozygous mutations of the ATP7B gene (p.H1069Q).[1] Medical treatment for Wilson disease was initiated with dietary copper restriction, zinc gluconate, and trientine. Escitalopram was also started for depression. Over the next year, his dysarthria improved, but he was twice readmitted for aggression, impulsive behavior, and suicidal and homicidal ideation. Escitalopram was gradually increased and later aripiprazole was added to his regimen. The patient's presentation highlights the importance of an evaluation for an organic disease in any child or adolescent who presents with neuropsychiatric symptoms.[2]

Video 1

Examination shows dysarthria, writhing tongue movements, end gaze limitation, and Kayser-Fleischer rings. Online content including video sequences viewable at: www.thieme-connect.com/products/ejournals/html/10.1055/s-0036-1586225.

Fig. 1 Axial MRI FLAIR sequence shows T2 prolongation in the putamina (A) and dorsal mesencephalon (B). Axial MRI diffusion-weighted imaging (C) and apparent diffusion coefficient (D) sequences show restricted diffusion within the dorsal mesencephalon. FLAIR, fluid-attenuated inversion recovery; MRI, magnetic resonance imaging.

• References

• 1 Hogland HC, Goldstein NP. Hematologic (cytopenic) manifestations of Wilson's disease (hepatolenticular degeneration). Mayo Clin Proc 1978; 53 (8) 498-500
• 2 Zimbrean PC, Schilsky ML. Psychiatric aspects of Wilson disease: a review. Gen Hosp Psychiatry 2014; 36 (1) 53-62