The evolving electroclinical syndrome of “epilepsy with ring chromosome 20”

PURPOSE Ring chromosome 20 {r(20)}--manifests as a refractory epilepsy syndrome with complex partial seizures (CPS), nocturnal frontal lobe seizures and non-convulsive status epilepticus (NCSE) in the majority of cases. r20 lacks a specific phenotypic expression or dysmorphic features. Psychomotor development may be normal, making the diagnosis difficult unless there is a high index of suspicion. This description of further cases is intended to improve recognition of this syndrome. METHODS Karyotyping for r20 was done in patients presenting with cryptogenic refractory epilepsy suggestive of r20 from August 2008 to September 2010. We identified three patients with r20 associated with refractory epilepsy. All were investigated with long-term video EEG. Their unique electro clinical features; epilepsy syndrome and outcome are discussed and compared to the available literature. RESULTS Karyotyping revealed ring 20 in 6-40% of lymphocytes. All manifested with seizures beginning at 2-10years of age. All had CPS; two had NCSE and one a seizure disorder resembling Lennox-Gastaut syndrome. The interictal EEG showed epileptiform abnormalities predominantly over the frontotemporal regions. Two patients had NCSE with generalized, frontally dominant theta and spike and wave discharges. None had facial dysmorphism or imaging abnormalities. They remained resistant to antiepileptic drugs. CONCLUSIONS The use of routine karyotyping can easily pick up r(20); this information is especially useful in resource-poor countries. We have evolved an algorithm stating the indications to attempt r(20) karyotyping in a given patient in the light of the results of the present study and the existing literature.