Myoclonic ecephalopathy in the CDKL5 gene mutation
| Autor: | Raffaella Zannolli, Vito Colamaria, Letizia Corbini, J. Hayek, Rosanna Maria Di Bartolo, Alessandra Orsi, Michele Zappella, Francesca Macucci, Sabrina Buoni |
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| Jazyk: | angličtina |
| Rok vydání: | 2006 |
| Předmět: |
Pediatrics
medicine.medical_specialty Encephalopathy CDKL5 Rett syndrome Epilepsies Myoclonic Gene mutation Electroencephalography Protein Serine-Threonine Kinases myoclonic encephalopathy Central nervous system disease Epilepsy Degenerative disease Physiology (medical) medicine Humans Child medicine.diagnostic_test CDKL5 gene medicine.disease Sensory Systems Neurology Mutation Female Neurology (clinical) Psychology Neuroscience |
| Popis: | Objective Epilepsy with mutation of the CDKL 5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms. The purpose of this study was to analyze the epileptic histories and EEGs of patients with the CDKL 5 mutation. Methods We reviewed the epilepsy histories and electroclinical analyses of three girls aged 9.5, 7.4, and 9.4 years, each with a mutation of the CDKL 5 gene. Results We revealed the presence of an encephalopathy that started by 1.5 months of age. At first, seizures involved tonic spasms or complex partial seizures, and were complicated by the later appearance of complex partial, tonic, and unexpectedly, myoclonic seizures. This form of epilepsy was drug resistant. Routine and prolonged video EEGs both displayed a homogeneous electroclinical pattern consisting of (a) unique background with diffuse high voltage sharp waves of 6–7Hz, and absence of the typical rhythmic frontal-central theta activity present in Rett syndrome; (b) unique awake and sleep background, with diffuse, high voltage, continuous sharp waves with multifocal and diffuse spikes; (c) rhythmic, diffuse, 15Hz activity accompanied clinically by tonic seizures; (d) intercritical pattern with pseudoperiodic, diffuse, sharp waves or pseudoperiodic, diffuse spike and polyspike or wave discharges; and (e) diffuse, spike, polyspike and wave discharges accompanied by massive or focal myoclonias or both. Conclusions Patients with the CDKL 5 mutation have an early onset, epileptic encephalopathy in infancy that evolves into myoclonic seizures in childhood with a unique EEG pattern. Significance Recognizing this type of encephalopathy could be useful in prompting clinicians to proceed further with their diagnostic work in patients not fitting the criteria of classical Rett syndrome. |
| Databáze: | OpenAIRE |
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