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EnglishRing 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.
| Titolo: | Ring 20 and epilepsy: a new case in pediatric age |
| Autori: | |
| Data di pubblicazione: | 2012 |
| Abstract: | 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. |
| Handle: | http://hdl.handle.net/11368/2715896 |
| Appare nelle tipologie: | 4.3 Poster |
