IngentaConnect Ring chromosome 20 syndrome: A link between epilepsy onset and ne...

Authors: Vignoli, Aglaia¹; Canevini, Mario Paola¹; Darra, Francesca²; La Selva, Lorita³; Fiorini, Elena²; Piazzini, Ada¹; Lazzarotto, Francesca²; Zucca, Claudio⁴; Dalla Bernardina, Bernardo²

Source: Epilepsia, Volume 50, Number 11, November 2009 , pp. 2420-2427(8)

Publisher: Blackwell Publishing

Abstract:

Summary Purpose:

Ring chromosome 20 [r(20)] syndrome is a well-defined chromosomal disorder characterized by epilepsy, mild-to-moderate mental retardation, and lack of recognizable dysmorphic features. Epilepsy is often the most important clinical manifestation of the syndrome, even if its appearance is not constantly precocious. Seizures are frequently drug resistant. Methods:

We describe three children with [r(20)] syndrome in whom the onset of epilepsy (age at onset range: 4 years and 6 months to 9 years and 4 months) determined a kind of epileptic status (age at onset range: 6 years and 10 months to 9 years and 8 months) with dramatic neuropsychological deterioration. This epileptic status lasted for several months because of refractoriness to most antiepileptic drugs (AEDs), but it was treated successfully with a combination of valproate and lamotrigine in two children. Results:

As soon as seizures stopped, the children showed prompt recovery with partial restoration of the neuropsychological impairment. Conclusion:

This clinical picture can be described as abrupt epileptic encephalopathy.

Keywords: Ring 20 syndrome; Epilepsy; Childhood; Epileptic encephalopathy

Document Type: Research article

DOI: 10.1111/j.1528-1167.2009.02176.x

Affiliations: 1: Epilepsy Centre, San Paolo Hospital, University of Milan, Milan, Italy 2: Child Neuropsychiatry Unit, University of Verona, Verona, Italy 3: Pediatric Epilepsy Service, San Paolo Hospital, Bari, Italy 4: “La Nostra Famiglia” Institute-Bosisio Parini, Lecco, Italy

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Ring chromosome 20 syndrome: A link between epilepsy onset and neuropsychological impairment in three children