Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children.
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.
Vignoli
Aglaia
A
Epilepsy Centre, San Paolo Hospital, University of Milan, Milan, Italy. aglaia.vignoli@ao-sanpaolo.it
Canevini
Mario Paola
MP
Darra
Francesca
F
La Selva
Lorita
L
Fiorini
Elena
E
Piazzini
Ada
A
Lazzarotto
Francesca
F
Zucca
Claudio
C
Dalla Bernardina
Bernardo
B
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
D000927:Anticonvulsants; D014227:Triazines; D014635:Valproic Acid; D000077213:Lamotrigine