Patodia Smriti, Somani Alyma, Thom Maria
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.
Epilepsy Behav Rep. 2021 Jan 28;15:100430. doi: 10.1016/j.ebr.2021.100430. eCollection 2021.
Polyglucosan bodies have been reported in the context of hypoxic-ischaemic perinatal brain injury, mainly in the pallidum but with rare reports in brainstem neurons. We report a case of a five-year-old boy with cerebral palsy and complex neurological features including epilepsy who experienced sudden nocturnal death. At post-mortem long-standing bilateral necrosis of basal ganglia and hippocampal atrophy was identified in keeping with hypoxic-ischaemic perinatal injury. In addition numerous polyglucosan bodies, which were PAS, p62 and ubiquitin positive, were noted in brainstem neurones and dendrites, primarily involving the ventrolateral and dorsomedial medulla. Immunohistochemistry confirmed relative preservation of medullary neuronal populations in the reticular formation, including catecholaminergic (tyrosine hydroxylase, TH), serotonergic (tryptophan hydroxylase) and neurokinin1 receptor/somatostatin positive neurones. The polyglucosan bodies predominated in catecholaminergic neurones which could indicate their selective vulnerability and a functional deficiency, which during a critical peri-ictal period contributed to the sudden unexpected death in epilepsy.
在围产期缺氧缺血性脑损伤的背景下已报道过存在多聚葡萄糖体，主要见于苍白球，但在脑干神经元中的报道较少。我们报告了一例5岁患有脑瘫且伴有包括癫痫在内的复杂神经学特征的男孩，该男孩夜间突然死亡。尸检时发现基底神经节存在长期双侧坏死以及海马萎缩，这与围产期缺氧缺血性损伤相符。此外，在脑干神经元和树突中发现了大量多聚葡萄糖体，这些多聚葡萄糖体对PAS、p62和泛素呈阳性反应，主要累及延髓腹外侧和背内侧。免疫组织化学证实了网状结构中髓质神经元群体相对保留，包括儿茶酚胺能（酪氨酸羟化酶，TH）、血清素能（色氨酸羟化酶）以及神经激肽1受体/生长抑素阳性神经元。多聚葡萄糖体在儿茶酚胺能神经元中占主导，这可能表明它们具有选择性易损性和功能缺陷，在关键的发作期导致了癫痫猝死。
