Abstract: 【Abstract】Objective To explore the clinical and video-electroencephalogram (VEEG) characteristics of Angelman syndrome (AS) diagnosed in infancy and to provide clues for early diagnosis. Methods From September 2010 to September 2015, ten patients with AS were diagnosed and treated in department of neurology and development of Affiliated Bayi Children's Hospital, PLA Army General Hospital. The age ranged from 6 months to 12 months. The clinical manifestations, VEEG data, genetic examination results, therapy and outcomes of the patients were retrospectively analyzed. Gesell development scale was used to evaluate the developmental quotient. Results The main symptom was developmental delay in all the patients. Six cases were misdiagnosed as cerebral palsy in other hospitals. Epileptic seizures occurred in five cases, and two patients displayed status epilepticus. Five patients had frequent laughter. Two patients showed sleep disorder. Seven cases showed microcephaly. Five cases had flat occiput. Four had hypopigmented skin light hair. Three cases had wide mouth and undershot jaw. Seven cases showed moderate to severe developmental delay. All the ten cases showed moderate to severedevelopmental delay of speech ability. The VEEG of all patients showed general high-amplitude slow waves during awake and sleep times paroxysmal or continuously. The slow waves might migrate between different sites. Spike or sharp waves might be mixed within this pattern. Genetic examinations showed abnormal in the 15q11-13 region of chromosome in all patients. Followed up for six months to five years, among the four patients without epilepsy in the first year, three cases presented epileptic seizures. All of the survivors had obvious cognitive disorder and language backward. Conclusions The clinical symptoms of AS in infancy are usually atypical. The main characteristic is developmental delay, and some patients have special faces. VEEG is a very sensitive and specific method to make early clinical diagnosis for AS. Genetic examinations should be done to make diagnosis to the suspected cases.
2016, Vol. 4 
