A Study on Brainstem Monoaminergic Neuron System in Developmental Disorders

1).我们将一名2岁男童的夜间多导睡眠图（PSG）睡眠参数与脑干病理结果进行比较，发现其神经病理分布与Leigh病相似。在PSG中，慢波睡眠的比例降低，而快速眼动睡眠的比例在正常范围内。尽管快速眼球运动的次数保持不变，但颏下肌抽搐的平均频率显示出轻微的下降。在非快速眼动睡眠和快速眼动睡眠期间，颏下肌张力分别得到维持和抑制。与Leigh病相比，睡眠参数受影响较小。神经病理学上，患者蓝斑区神经元数量和酪氨酸羟化酶（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。这些数据提示，人脑干的生理功能障碍与病理改变之间可能存在相关性(2)。为了探讨脑干病变参与婴儿痉挛的病理机制，我们通过免疫组织学检查了尸检的West综合征和lenox - gastaut综合征（WL）患者脑干中神经递质和钙结合蛋白的表达，其中包括4例无脑畸形和围产期缺氧缺血性脑病的后遗症。所有WL患者迷走神经运动背核th免疫阳性神经元均减少，而色氨酸羟酶免疫阳性结构大部分保留。在抗小白蛋白（PV）免疫染色中，WL患者的脑干听觉系统识别不佳。在我们的WL尸检病例中观察到的TH和PV的免疫反应性紊乱更有可能与婴儿痉挛的发病机制有关，因为疾病对照未显示TH和PV的免疫染色有任何变化。

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.