Publikace na 1. lékařská fakulta |
2021
Abstrakt
We present a 24-year-old woman of European descent referred for etiological evaluation of adolescence-onset choreodystonia. The patient had a normal birth but was noted to have developmental delay.
She experienced absence seizures in infancy, which resolved spontaneously. She was diagnosed with obsessive-compulsive disorder and anxiety at the age of 4 years and subsequently with autism spectrum disorder at age 9.
Examination at the age of 24 years documented generalized chorea involving the neck, face, trunk, and all 4 extremities, intermittent forearm dystonia, and moderate intellectual disability. Routine diagnostic explorations including brain MRI and targeted genetic testing (HTT and C9orf72) were unrevealing.