Take control of your epilepsy and seizures. Seizure management has never been easier.
TAKE CONTROL TODAYWritten by Dr. Syed Hosain
Ring chromosome 20 syndrome (RC20) is one of a number of chromosomal disorders associated with refractory epilepsy. A ring chromosome is formed by the fusion of two arms of a chromosome during pre-natal development. Why the formation of the ring causes epilepsy and other symptoms of the syndrome is not well understood.
The age of the onset of the syndrome has been reported between day one of postnatal life to 17 years. Development is usually normal before the onset of seizures. Clinically this syndrome is characterized by frequent nocturnal subtle seizures and EEG showing prolonged high voltage frontally dominant slowing intermixed with spikes or sharp waves. This syndrome is also characterized by behavioral problems, mild mental retardation, cognitive impairment and learning disabilities.
Epilepsy appears to be the first and major clinical symptom of this syndrome, is a constant feature, and is often drug resistant. Seizures associated with RC20 syndrome are often complex partial and reported as episodes of altered consciousness with staring, oral automatisms, unspecified automatic behavior, focal motor symptoms and/or head turning. Subtle nocturnal behavioral changes such as stretching, rubbing, turning that resemble arousal, subtle nocturnal seizures (SNS), and subtle nocturnal frontal lobe seizures (SNFL) have also been reported in studies of RC20 patients.
Ring Chromosome 20 syndrome is diagnosed by recognition of the features outlined above and through looking at the pattern of chromosomes in the affected person’s cells. This is most easily done by looking at the chromosome pattern (karyotype) in blood cells but any other tissue including skin could be examined. Epilepsy is not present in all individuals with RC20, however, it is the most consistent clinical feature. Unlike other chromosomal disorders with epilepsy, dysmorphism and other congenital malformations are rarely a part of this condition.
Children can be misdiagnosed with Lennox-Gastaut syndrome or Landau-Kleffner syndrome. These two epilepsy syndromes have clinical similarities to RC20 and are characterized by frequent seizures, decline in learning ability and behavior and often termed as cognitive epileptic encephalopathies. RC20 syndrome phenotype can also be mistaken for autosomal dominant nocturnal frontal lobe epilepsy (ADNFE). ADNFE is a amilial partial epilepsy causing frequent, violent, brief seizures at night. Seizures usually begin in childhood and are easily controlled with carbamazepine unlike seizures in RC20 syndrome. The EEG features in RC20 may also have overlapping features of continuous slow spike and wave discharges in slow wave sleep (CSWS) and electrical status epilepticus in sleep (ESES).
RC20 epilepsy is undoubtedly a rare condition. To date there is no published data on the incidence or prevalence of this syndrome. More than 50 cases have been reported in the medical literature. Since chromosomal analysis or karyotype testing is not a routine investigation when refractory epilepsy first presents, the diagnosis of RC20 may be delayed or go unrecognised. In other words, some people with difficult-to-control epilepsy may have a ring chromosome 20 but be unaware of it.
Since seizures with RC20 are typically difficult to treat, seizure control is very important. Every situation is different and complex. Antiepileptic drugs are the mainstay and first line of treatment, however no one drug or treatment has been shown to be better than others. Patients are frequently exposed to multiple antiepileptic drugs. Epilepsy in RC20 is not amenable to resective surgery because of lack of focal epileptogenic region. Vagus nerve stimulation has been successful in a few cases reported in the literature.
After years of testing, misdiagnosis, and a difficult journey to find medical treatment, the Ford family was told that the reason their young daughter Cara was having frequent and severe seizures was because of ring chromosome 20 syndrome. With so much uncertainty and little information about the syndrome available, Cara’s father, Stewart Ford, decided to establish a Foundation to fund research and projects so that families and doctors can better understand this condition and its treatment.
The purpose of the Ring Chromosome 20 Foundation is to promote awareness of the syndrome and the importance of chromosomal testing in children with refractory epilepsy. The Foundation is based in New York City and in London. For more information about this syndrome and the Foundation, please visit www.ring-chromosome-20.org
Topic Editor: Steven C. Schachter, M.D.
Last Reviewed:12/15/06
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