[Clinical manifestation and EEG characteristics of Angelman syndrome].

OBJECTIVE

To investigate the clinical manifestations and EEG characteristics of Angelman syndrome in children, and to strengthen the recognition of this disease.

METHOD

Fourteen children with Angelman syndrome received video EEG monitoring, head MRI/CT and gene test, 11 patients received the metabolic investigations (e.g., lactic acid, ammonia, GC/MS and MS/MS). Eight patients received Gesell test. The patients were followed up for 1-3 years.

RESULT

Of the 14 cases, 4 were male and 10 female, their age was from 8 months to 3 years and 7 months. The clinical characteristics included prominent lower jaw and wide mouth, fair skin and yellow hair, light-colored iris, paroxysmal laughter, astasia and language backward. Twelve patients had epileptic seizures; 10 patients displayed non-convulsive status epilepticus (NCSE), 9 patients displayed myoclonic, atypical absence, and non-convulsive seizure simultaneously; myoclonic, generalized tonic-clonic seizure and complex partial seizure in 1 each; 4 patients had fever in early seizures. The EEG showed paroxysmal middle-high amplitude 2-3 Hz spike and spinous slow-wave in 8 patients. Four patients showed paroxysmal frequently middle-high amplitude 2-3 Hz slow waves mixed with sharps. The other 2 patients showed a normal EEG. All the patients were diagnosed with genetics testing. The results included maternal deletion of chromosome 15q11-13 in 12, paternal uniparental disomy in 1 and imprinting defects in 1.

CONCLUSION

There are characteristic clinical manifestation and craniofacial features in Angelman syndrome patients. Some patients have specific EEG patterns. Abnormal region of chromosome 15q11-13 is the basis of diagnosis.