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 ed epilessia: un nuovo caso in età pediatrica
GALLI, Jessica;Molinaro A;FAZZI, Elisa Maria;
2013-01-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
