Scher M S, Bergman I, Ahdab-Barmada M, Fria T
Neuropediatrics. 1986 Aug;17(3):137-43. doi: 10.1055/s-2008-1052515.
Electroencephalographic (EEG) and brainstem auditory evoked response (BAER) findings have not been previously described and correlated with the pathological findings in an autopsied case of neonatal nonketotic hyperglycinemia (NKH). A 38 week gestation male infant presented within two hours of age with stimulus-evoked myoclonus and seizures in the context of progressive coma. Electrographic studies demonstrated cortical myoclonus and electrical seizures exquisitely localized to the midline region as well as a suppression-burst background disturbance. These vertex spike discharges were elicited after tactile stimulation. Prolonged intra-axial latencies for waves III and V were recorded on the BAER on the second day of life. Spongy leukodystrophy was noted on gross and microscopic examination of the brain involving all myelinated tracts especially in the reticular activating system, cerebellar peduncles and optic tracts. Neuropathological confirmation of brainstem involvement emphasizes the role of the nonspecific diffuse somatosensory projection system in the generation of myoclonus and stimulus-evoked seizures in the comatose patient with NKH.
脑电图（EEG）和脑干听觉诱发电位（BAER）的研究结果此前尚未见报道，也未与新生儿非酮症高甘氨酸血症（NKH）尸检病例的病理结果相关联。一名孕38周的男婴在出生后两小时内出现刺激诱发的肌阵挛和进行性昏迷背景下的癫痫发作。脑电图研究显示皮质肌阵挛和电癫痫发作精确地定位于中线区域，以及抑制 - 爆发背景干扰。这些顶点棘波放电在触觉刺激后引出。出生第二天的BAER记录显示波III和波V的轴内潜伏期延长。在大脑的大体和显微镜检查中发现海绵状脑白质营养不良，累及所有有髓神经纤维束，尤其是网状激活系统、小脑脚和视束。脑干受累的神经病理学证实强调了非特异性弥漫性躯体感觉投射系统在NKH昏迷患者肌阵挛和刺激诱发癫痫发作产生中的作用。
