Ozyürek Hamit, Turanli Güzide, Aliefendioglu Didem, Coskun Turgay
Department of Pediatric, Pediatric Neurology Unit, Hacettepe University Faculty of Medicine, Turkey.
Neurol India. 2005 Jun;53(2):235-7. doi: 10.4103/0028-3886.16423.
Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, time of onset before 3 months of age, and suppression-burst (SB) pattern in EEG are accepted as the diagnostic criteria for EME. We report a 40-day-old infant with the diagnosis of non-ketotic hyperglycinemia (NKHG). The infant developed myoclonic and focal tonic seizures on the first day of life. His first sleep EEG recorded after onset of seizure was normal. Because of the diagnosis of NKHG and early developed myoclonic seizure, we thought the infant might be EME, and repeated sleep EEG on admission in which asymmetrical SB pattern was seen. We concluded that the absence of SB pattern in the first EEG recording does not exclude the diagnosis of EME, but repetition of EEG is necessary to demonstrate the presence of SB pattern to meet the diagnostic criteria for EME.
早期肌阵挛性脑病（EME）是一种罕见的恶性癫痫综合征。伴有或不伴有局灶性运动性发作的不规则肌阵挛、发病年龄在3个月之前以及脑电图中的爆发抑制（SB）模式被公认为是EME的诊断标准。我们报告一名诊断为非酮症高甘氨酸血症（NKHG）的40日龄婴儿。该婴儿在出生第一天出现肌阵挛和局灶性强直发作。发作后首次记录的睡眠脑电图正常。由于诊断为NKHG且早期出现肌阵挛发作，我们认为该婴儿可能是EME，并在入院时重复进行睡眠脑电图检查，结果发现了不对称的SB模式。我们得出结论，首次脑电图记录中未出现SB模式并不排除EME的诊断，但重复进行脑电图检查对于证明存在SB模式以符合EME的诊断标准是必要的。
