Ring chromosome 20 syndrome is a chromosomal disorder
characterized by epilepsy and mild-to-moderate
mental retardation. We describe a child (age at onset 5
years and 3 months) with partial seizures, during wakefulness
and sleep. She has had a normal psychomotor development,
dysmorphic features were absent.
The interictal EEG revealed bifrontal theta–delta activity
with spikes and spikes-waves. Brain MRI was normal.
After the genetic diagnosis (mosaicism) a combination of
valproate and lamotrigine led to a good control of seizures.
Our patient has not developed status epilepticus or behavioural
problems. Actually, after one year of follow-up,
she does not show neuropsychological impairment (at
Leiter-r, normal QI).
We think that an early treatment with valproate and lamotrigine
can be considered the gold standard for this
epilepsy.
