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[Wilson's disease presenting as Asperger syndrome].
Kazuhiro Tomiyasu1, Takeo Oshima1, Masami Yoshii1
1Department of Neurology, Saiseikai Utsunomiya Hospital.
Rinsho Shinkeigaku = Clinical Neurology
|September 3, 2019
Summary
Wilson's disease (WD) can manifest with psychiatric symptoms, mimicking conditions like Asperger syndrome. Early diagnosis and treatment with trientine hydrochloride improved this patient's symptoms, highlighting WD's importance in differential diagnoses.
Area of Science:
- Neurology
- Psychiatry
- Genetics
Background:
- Wilson's disease (WD) is a rare genetic disorder affecting copper metabolism.
- It often presents with neurological and psychiatric symptoms, which can be mistaken for other conditions.
Observation:
- A 24-year-old male with a 3-year history of Asperger syndrome diagnosis presented with tremors.
- Initial psychiatric symptoms included behavioral disturbances, lack of social awareness, and social inability.
Findings:
- Clinical evaluation, laboratory tests, and brain MRI led to a Wilson's disease diagnosis.
- Genetic testing confirmed a mutation in the ATP7B gene, causative for WD.
- Treatment with trientine hydrochloride resulted in significant improvement of psychiatric symptoms within one year.
Implications:
- Psychiatric symptoms can precede neurological manifestations in Wilson's disease.
- WD should be considered in the differential diagnosis of psychiatric disorders in young adults.
- Timely diagnosis and treatment can lead to favorable outcomes for WD patients.