Rafałowska J, Dziewulska D, Jamrozik Z
Department of Neurology, School of Medicine, Warsaw.
Neuropatol Pol. 1993;31(1-2):45-54.
Coexistence of several developmental abnormalities in adults is very rare and often asymptomatic. In many instances appearance of clinical symptomatology is evoked by some additional factors, not related directly with the basic pathological process. In a 21-year-old oligophrenic man a progressive paresis of inferior limbs appeared in the course of the upper respiratory tract infection. During 5 days of hospitalization transient peripheral paresis of the right facial nerve, tetraplegia, sphincter and respiratory disturbances occurred. Guillain-Barré syndrome and subarachnoid hemorrhage were diagnosed. On autopsy hemorrhagic focus in the medulla and in the cervical and upper thoracic parts of the spinal cord was found. Microscopic examination revealed hypocellularity of the 2nd and 4th layers of the temporal cortex, presence of the central canal within the brain stem, and hemorrhagic focus in the medulla. Two malformations in spinal cord were revealed: intraspinal angioma extending from the C2 to the Th6 segments and diastematomyelia within Th11 and lumbar segments. Diastematomyelia, cortical hypocellularity and angioma composed of fetal, lacunar artery- and vein-like vessels, are related with different periods of the ontogenic development. Coexistence of these malformations indicates prolonged action of the pathogenic factor(s), both in the embryonic and fetal life.
成人多种发育异常并存的情况非常罕见，且通常无症状。在许多情况下，临床症状的出现是由一些与基本病理过程无直接关联的附加因素引起的。一名21岁的智力发育迟缓男性，在上呼吸道感染过程中出现了下肢进行性麻痹。住院5天期间，出现了右侧面神经短暂性周围性麻痹、四肢瘫、括约肌及呼吸功能障碍。诊断为吉兰 - 巴雷综合征和蛛网膜下腔出血。尸检发现延髓以及脊髓颈段和上胸段有出血灶。显微镜检查显示颞叶皮质第2层和第4层细胞减少，脑干内存在中央管，延髓有出血灶。发现脊髓有两种畸形：从C2至Th6节段的脊髓内血管瘤以及Th11和腰段的脊髓纵裂。脊髓纵裂、皮质细胞减少以及由胎儿期、腔隙状动脉样和静脉样血管组成的血管瘤，与个体发育的不同时期有关。这些畸形并存表明致病因素在胚胎期和胎儿期都有长期作用。
