A quarterly publication of the Autism Research Institute

The Autism Research Review International is quarterly publication of the Autism Research Institute

Fall, 2019 | Number 4, Volume 33

Case report: Wilson’s disease misdiagnosed as Asperger syndrome

In a new case study, doctors in Japan report on a man misdiagnosed with Asperger syndrome who was later found to have Wilson’s disease. 

Wilson’s disease is an inherited disorder in which excess amounts of copper accumulate in the body. In addition to causing liver disease, Wilson’s disease can cause neurological or psychiatric symptoms, including tremors, clumsiness, speech problems, cognitive problems, difficulty in swallowing, anxiety, depression, and mood swings. It often leads to the formation of a greenish-brown ring around the iris. The disease can be treated successfully with medication, especially if it is diagnosed early. 

The 24-year-old patient described in the case study exhibited symptoms, including behavioral problems, a lack of social awareness, and an inability to socialize, and had been diagnosed with Asperger syndrome in adolescence. He was referred to the author’s hospital after he developed tremors. The authors say that based on clinical features, laboratory tests, a brain MRI, and genetic testing, they were able to confirm the diagnosis of Wilson’s disease. They began treating the man with trientine hydrochloride, a drug that removes excess copper from the body, and said that “after one year of follow-up, his psychiatric symptoms have improved.” 

The authors conclude, “Since psychiatric symptoms may precede the neurological symptoms, the possibility of Wilson’s disease should always be considered in the differential diagnosis of psychiatric disorders in young adults.”


“Wilson’s disease presenting as Asperger syndrome,” Kazuhiro Tomiyasu, Takeo Oshima, Masami Yoshii, Hiromi Suzuki, Joji Inamasu, and Manabu Izumi, Rinsho Shinkeigaku, August 30, 2019 (free online in Japanese with English abstract). Address: Kazuhiro Tomiyasu, Department of Neurology, Saiseikai Utsunomiya Hospital, Utsunomiya, Japan.