A Study on Brainstem Monoaminergic Neuron System in Developmental Disorders

1）。我们比较了一名两岁男童的整夜多导睡眠图（PSG）的睡眠参数与脑干的病理结果，显示出与Leigh病相似的神经病理分布。PSG中慢波睡眠百分比降低，而REM睡眠百分比在正常范围内。颏下肌抽搐的平均频率显示出轻微的下降，尽管快速眼球运动的数量保持不变。颏下肌张力在非快速眼动期和快速眼动期分别得到维持和抑制。睡眠参数的影响小于Leigh病。神经病理学上，患者蓝斑神经元数目和酪氨酸羟化酶（TH）免疫阳性神经元百分比均减少，但脑干病变不像Leigh病那么严重。这些数据表明，人类脑干的生理功能障碍和病理变化之间可能存在相关性。为探讨脑干病变在婴儿痉挛发病机制中的作用，我们采用免疫组织化学方法检测了West综合征和Lennox-Gastaut综合征（WL）尸检病例脑干中神经递质和钙结合蛋白的表达，其中无脑畸形和围产期缺氧缺血性脑病各4例。所有WL患者迷走神经运动背核TH免疫阳性神经元减少，而大部分色氨酸羟化酶免疫阳性结构被保留。在抗小白蛋白（PV）免疫染色中，WL患者的脑干听觉系统识别较差。在我们的WL尸检病例中观察到的TH和PV免疫反应性的紊乱更可能与婴儿痉挛的发病机制有关，因为疾病对照组的TH和PV免疫染色均未显示任何变化。

1). We compared sleep parameters in all-night polysomnography (PSG) with pathological findings of the brainstem in a two-year-old male child, showing the similar neuropathological distribution to that in Leigh disease. In PSG, the percentage of slow wave sleep was reduced, while that of REM sleep was within normal range. The average frequency of submental muscle twitches showed a mild decrease, although the number of rapid eye movements was preserved. The tone of submental muscle was maintained and suppressed during non-REM and REM sleep, respectively. The sleep parameters were less affected than in Leigh disease. Neuropathologically, both the number of neurons and the percentage of tyrosine hydroxylase (TH)-immunopositive neurons were reduced in the locus ceruleus of the patient, however, the brainstem lesions were not so severe as those in Leigh disease. These data suggested that there might be a correlation between physiological dysfunctions and pathological changes in the human brainstem.2). To investigate the involvement of the brainstem lesion in the pathological mechanism of infantile spasm, we immunohistologically examined the expressions of neurotransmitters and calcium-binding proteins in the brainstem in autopsy cases who suffered from both West and Lennox-Gastaut syndromes (WL), consisting of four subjects each of lissencephaly and a sequela of perinatal hypoxic ischemic encephalopathy. TH-immunopositive neurons were reduced in the dorsal motor nucleus of the vagal nerve in all of the WL patients, while most of tryptophan hydroxylase-immunopositive structures were preserved. In the anti-parvalbumin (PV) immunostaining, the brainstem auditory system was poorly identified in the WL patients. It is more likely that the disturbance of immunoreactivities for TH and PV observed in our WL autopsy cases can be related to the pathogenesis of infantile spasm, because the disease controls did not show any changes in either of immunostainings against TH and PV.