Abstract:

Objective  To investigate the imaging and clinicopathological features of pachygyria limited in the right temporo-parieto-occipital lobe and the key points of its diagnosis and treatment, in order to improve the recognition of this disease.  Methods and Results  A 2-year-old boy was admitted to hospital because of paroxysmal loss of consciousness and convulsion for 18 months with progressive aggravation. MRI showed malformations of cortical development in the right temporo-parieto-occipital lobe. Epileptic foci resection on the right temporo-parieto-occipital lobe was made. Histological examination after operation showed uneven thickening of gray matter, shrinking of white matter and disappearing cortical stratification, while a lot of dysmorphic neurons, balloon cells and scattered balloon cells in white matter appeared. Immunohistochemical staining revealed that dysmorphic neurons were positive for non-phosphorylated neurofilament protein SMI-32, microtubule-associated protein-2 (MAP-2) and vimentin (Vim) or neurofilament protein (NF). Both dysmorphic neurons and balloon cells expressed phosphorylated ribosomal S6 protein (RPS6), while the former was stronger than the latter. Balloon cells were not positive for MAP-2 or Vim. No disturbance of consciousness or limb twitches occurred in this patient during one-year follow-up.  Conclusions  Congenital pachygyria was cortical dysplasia caused by the early proliferation and migration disorder of brain, and should be distinguished with focal cortical dysplasia (FCD) type Ⅱ b and tuberous sclerosis complex (TSC). Clinical history, imaging and histological features should be included in the diagnosis.

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摘要：

目的 报告1 例（右侧颞顶枕叶局限性）先天性巨脑回畸形患儿的影像学和临床病理学特征，以及诊断与治疗要点，以期提高对该病的认识。方法与结果 男性患儿，2 岁，临床表现为发作性意识丧失伴肢体抽搐18 个月并进行性加重，MRI 以右侧颞顶枕叶皮质发育畸形为特征，手术切除右侧颞顶枕区致灶。术后组织学形态呈现灰质不均匀增厚、白质减少，皮质分层结构消失，代之以大量异常神经元和“气球”样细胞，以及白质内散在“气球”样细胞；免疫组织化学染色，异常神经元表达非磷酸化神经丝重链SMI-32、神经元微管相关蛋白-2 和波形蛋白或神经微丝蛋白，异常神经元和“气球”样细胞同时表达磷酸化S6 核糖体蛋白（前者强于后者），但“气球”样细胞不表达神经元微管相关蛋白-2 和波形蛋白。随访1 年无意识障碍、肢体抽搐发作。结论 先天性巨脑回畸形为脑发育早期增殖、移行障碍所致大脑皮质发育不良，应注意与局灶性皮质发育不良Ⅱb 型和结节性硬化症相鉴别，综合临床病史、影像学和组织学特征明确诊断。

关键词: 皮质发育畸形, 免疫组织化学, 病理学