Epilepsy onset and severe neuropsychological impairment in two children with ring chromosome 20 syndrome
Abstract
Data di Pubblicazione:
2005
Citazione:
Epilepsy onset and severe neuropsychological impairment in two children with ring chromosome 20 syndrome / A. Vignoli, M.P. Canevini, F. Darra, S. Giacopuzzi, A. Piazzini, C. Pederiva, D. Casero, C. Zucca, V. Sgro, R. Canger, B. Dalla Bernardina. - In: EPILEPSIA. - ISSN 0013-9580. - 46:Suppl. 8(2005), pp. 144-145. (Intervento presentato al convegno American Epilepsy Society and American Clinical
Neurophysiology Society Joint Annual Meeting tenutosi a Washington, DC nel 2005).
Abstract:
Rationale: Ring chromosome 20 [r(20)] syndrome is a well-definied
chromosomal disorder characterized by epilepsy, mild to moderate mental
retardation and lack of recognizable dysmorphic features.
Methods: We describe two children, aged 7 and 9 years, who developed
intractable frontal seizures during sleep and awakeness and, after
few months of epilepsy history, showed a severe neuropsychological impairment
mostly characterized by language loss, confusion and deficit
in fine motor skills.
Results: EEG demonstrated in both cases a continous spike and wave
activity on frontal regions bilaterally during wake and sleep. Seizures
were characterized by loss of contact, increased muscular tone at upper
limbs with dystonic posture of the hands and motor automatisms at lower limbs. Sometimes clonic jerks at the arms, the eyelids and perioral
myoclonias were recorded. Seizures onset was predominant in the
frontal regions. In both cases the electroclinical situation evolved in status
epilepticus with continous spike and waves interrupted only by overt
seizures (up to one seizure every 15 minutes).
Brain MRI and neurological examination were normal. No dysmorphic
feature was noted.
Both seizures and epileptic continous activity were resistant to most
antiepileptic drugs; in both children epilepsy and neuropsychological
recovery were obtained with valproic acid and lamotrigine.
Chromosome analysis revealed mosaic ring 20 chromosome abnormality.
IQ at follow-up was 74 and 80 respectively.
Conclusions: R (20) syndrome is a rare chromosomal aberration associated
with epilepsy. In most cases described in the literature, mental
retardation of various degrees was present in early development, as
soon as epilepsy started. Nevertheless, few cases of r(20) syndrome with
seizure onset in late childhood and adolescence and progressive mental
impairment were reported. We would like to stress the importance
of searching r(20) syndrome in patients with no dysmorphic features
and normal psychomotor development, who started having intractable
seizures of probable frontal origin and mental deterioration (loss of language,
frontal syndrome). EEG characteristics should address to diagnosis,
that need chromosome analysis to be confirmed. Valproate and lamotrigine
in association demonstrated a good efficacy in seizure control
and neuropsychological recovery, even if the cognitive profile showed
an impairment compared to the phase before the epilepsy onset.
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
A. Vignoli, M.P. Canevini, F. Darra, S. Giacopuzzi, A. Piazzini, C. Pederiva, D. Casero, C. Zucca, V. Sgro, R. Canger, B. Dalla Bernardina
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