Okumura A, Hayakawa F, Kuno K, Hayakawa S, Hashizume Y, Watanabe K
Department of Pediatrics, Anjo Kosei Hospital, Aichi.
No To Hattatsu. 1996 Sep;28(5):424-9.
We reported a case of type I lissencephaly/pachygyria which had cystic changes in the periventricular white matter and lentiform nuclei. The patient developed neonatal seizures and was referred to Anjo Kosei Hospital His seizures were frequent and refractory to anticonvulsants. His development was severely retarded. CT and MRI revealed cystic changes in the periventricular white matter and lentiform nuclei as well as bilateral diffuse pachygyria and agenesis of corpus callosum. He died of unknown cause at 5 months of age and postmortem examination was performed. Type I lissencephaly/pachygyria, almost complete agenesis of corpus callosum, leptomeningeal glioneuronal heterotopia and hypoplasia of corticospinal tract were seen pathologically. Marked gliosis and CD 68 positive macrophages were found around the cystic lesions in the periventricular white matter and lentiform nuclei, which suggests that these lesions were the secondarily destructive lesion. We considered that these secondary lesions were due to frequent seizures which could cause insufficient supply of blood and glucose in those areas.
我们报告了一例I型无脑回/巨脑回畸形病例，其脑室周围白质和豆状核出现囊性改变。该患者出现新生儿惊厥，并被转诊至安城厚生医院。他的惊厥频繁发作，对抗惊厥药物难治。其发育严重迟缓。CT和MRI显示脑室周围白质和豆状核有囊性改变，以及双侧弥漫性巨脑回畸形和胼胝体发育不全。他在5个月大时因不明原因死亡，并进行了尸检。病理检查发现I型无脑回/巨脑回畸形、胼胝体几乎完全缺如、软脑膜神经胶质神经元异位和皮质脊髓束发育不全。在脑室周围白质和豆状核的囊性病变周围发现明显的胶质增生和CD 68阳性巨噬细胞，这表明这些病变是继发性破坏性病变。我们认为这些继发性病变是由于频繁惊厥导致这些区域血液和葡萄糖供应不足所致。
