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

Aglaia Vignoli1, Mario Paola Canevini, Francesca Darra

  • 1Epilepsy Centre, San Paolo Hospital, University of Milan, Milan, Italy. aglaia.vignoli@ao-sanpaolo.it

Epilepsia
|July 9, 2009
PubMed

Insights

Ring chromosome 20 syndrome can cause drug-resistant epilepsy and abrupt epileptic encephalopathy in children. Prompt treatment with valproate and lamotrigine led to significant neuropsychological recovery.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Ring chromosome 20 [r(20)] syndrome is a genetic disorder.
  • It is characterized by epilepsy, intellectual disability, and absence of dysmorphic features.
  • Epilepsy is a primary clinical feature, often drug-resistant.

Observation:

  • Three children with [r(20)] syndrome experienced epileptic status with severe neuropsychological decline.
  • The condition emerged between ages 4.5 and 9.8 years.
  • Epileptic status persisted for months due to refractoriness to antiepileptic drugs (AEDs).

Findings:

  • Two children achieved successful seizure control using a combination of valproate and lamotrigine.
  • Seizure cessation resulted in rapid neuropsychological improvement and partial restoration of cognitive function.

Implications:

  • This presentation suggests a distinct clinical entity: abrupt epileptic encephalopathy.
  • Early diagnosis and aggressive treatment of epilepsy in [r(20)] syndrome are crucial.
  • Combination therapy may be effective for refractory epilepsy in this syndrome.
Abstract

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