We present the case of a 17-year-old girl who was admitted to our hospital for clarification
of epileptic seizures with the help of a 48-hour-EEG video monitoring. The girl referred
to a 6-year history of episodes in which the left hand moved involuntarily, which
she described as circular movements of the wrist joint. Moreover, she reported that
the left corner of her mouth hung during an episode. Often she felt an aura in the
form of tickling in her left hand before the episode began. The episodes lasted for
approximately 10 seconds and could sometimes be interrupted through clenching a fist.
The frequency of episodes described is from 5 to 6 times per day to approximately
2 times per month. Most of the time, episodes are triggered by the girl getting up
and starting to walk. Past neurological examinations, EEG, and cerebral neuroimaging
never detected abnormalities.
Examining all symptoms of the girl, all criteria for diagnosing a paroxysmal kinesogenic
dyskinesia were met: involuntary, circling movements of the hand triggered by getting
up fast, aura symptoms, localization, preserved consciousness, duration, frequency,
beginning of the symptoms, and no neurological abnormalities.
Because of the high mental burden through these episodes and positive experience with
antiepileptic drugs mentioned in the literature, a medicinal therapy attempt with
Levetiracetam was made.
To confirm the diagnosis, a genetic clarification was performed. At first it was not
possible to prove an explicit genetic defect, but after testing a candidate gene,
a mutation of chromosome 16 was detected.
Through our poster, we introduce the clinics of this rare movement defect, the therapy
attempts, and the human genetics proof of the mutation.
