title: Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  This clinical picture can be described as abrupt epileptic encephalopathy.
authors: Epilepsy Centre, San Paolo Hospital, University of Milan, Milan, Italy. aglaia.vignoli@ao-sanpaolo.it
authors: Aglaia
authors: A
authors: Vignoli
authors: Mario Paola
authors: MP
authors: Canevini
authors: Francesca
authors: F
authors: Darra
authors: Lorita
authors: L
authors: La Selva
authors: Elena
authors: E
authors: Fiorini
authors: Ada
authors: A
authors: Piazzini
authors: Francesca
authors: F
authors: Lazzarotto
authors: Claudio
authors: C
authors: Zucca
authors: Bernardo
authors: B
authors: Dalla Bernardina
mesh_terms: D000328:Adult; D017668:Age of Onset; D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D003072:Cognition Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D015897:Comorbidity; D004351:Drug Resistance; D004359:Drug Therapy, Combination; D004827:Epilepsy / Q000188:drug therapy / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D000077213:Lamotrigine; D009483:Neuropsychological Tests / Q000706:statistics & numerical data; D012303:Ring Chromosomes; D013577:Syndrome; D014227:Triazines / Q000627:therapeutic use; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D014227:Triazines; D014635:Valproic Acid; D000077213:Lamotrigine