Sarnat Harvey B, Trevenen Cynthia L
Department of Paediatrics, University of Calgary Faculty of Medicine and Alberta Children's Hospital, Calgary, Alberta, Canada.
Can J Neurol Sci. 2007 May;34(2):215-20. doi: 10.1017/s0317167100006077.
Neuropathological changes in degenerating motor neurons are well documented in the term neonate with spinal muscular atrophy, but not at midgestation.
Postmortem neuropathological examination was performed in a 20-week male fetus with a hypoplastic left cardiac anomaly.
Selective degeneration of spinal and hypoglossal motor neurons was an incidental finding. Degenerating motor neurons were not immunoreactive with neuronal nuclear antigen (NeuN) or neuron-specific enolase (NSE), as were the normal motor neurons. Synaptophysin reactivity was reduced around the soma of degenerating normal motor neurons. Ubiquitin and tau were expressed in degenerating motor neurons. Gliosis, inflammation and microglial activation were lacking in the ventral horns of the spinal cord. Laryngeal striated muscle was unaltered for age. No cerebral malformations or hypoxic-ischaemic changes were found.
This case represents an early motor neuronal degeneration and corresponds to the recently described "type 0" spinal muscular atrophy. Lack of contractures is attributed to the early fetal age, since most muscular growth occurs in the second half of gestation.
脊髓性肌萎缩症足月新生儿退化运动神经元的神经病理学变化已有充分记录，但在妊娠中期尚未见报道。
对一名患有左心发育不全畸形的20周男性胎儿进行了尸检神经病理学检查。
脊髓和舌下运动神经元的选择性退化是一个偶然发现。退化的运动神经元与正常运动神经元不同，对神经元核抗原（NeuN）或神经元特异性烯醇化酶（NSE）无免疫反应。退化正常运动神经元胞体周围的突触素反应性降低。泛素和tau蛋白在退化的运动神经元中表达。脊髓腹角未见胶质增生、炎症和小胶质细胞活化。喉横纹肌未随年龄发生改变。未发现脑畸形或缺氧缺血性改变。
该病例代表早期运动神经元退化，与最近描述的“0型”脊髓性肌萎缩症相符。缺乏挛缩归因于胎儿早期，因为大多数肌肉生长发生在妊娠后半期。
