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.

Ring 20 and epilepsy: a new case in pediatric age

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11368/2715896
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