Takemura T, Yoshioka K, Okada M
Department of Pediatrics, Kinki University, School of Medicine, Osaka-Sayama.
No To Hattatsu. 1994 Sep;26(5):434-8.
We reported here a case of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome (TRPS) type II) associated with epilepsy. TRPS type II is an uncommon genetic disease characterized by sparse, slowly growing scalp hair, pear-shaped nose, multiple cartilagenous exostosis and mental retardation associated with delayed speech development. This patient displayed typical features of this syndrome. He also showed arachnoid cyst in the frontal area on computer tomography of the brain, and paroximal activities on EEG. Chromosomal analysis revealed a partial deletion of the long arm of chromosome 8. He had afebrile convulsion which is a rare complication of this syndrome.
我们在此报告一例与癫痫相关的朗格-吉迪恩综合征（毛发-鼻-指综合征（TRPS）II型）。TRPS II型是一种罕见的遗传性疾病，其特征为头皮毛发稀疏、生长缓慢，梨形鼻，多发软骨外生骨疣以及与语言发育迟缓相关的智力障碍。该患者表现出了此综合征的典型特征。他在脑部计算机断层扫描中还显示额叶区域有蛛网膜囊肿，脑电图上有阵发性活动。染色体分析显示8号染色体长臂部分缺失。他出现了无热惊厥，这是该综合征罕见的并发症。
