Aicardi症候群の1症例

A case of Aicardi's syndrome

　生後2カ月より異常脳波を伴う屈曲性痙攣が出現したAicardi症候群の女児を報告した．CTで脳梁欠損，X線にて第11胸椎に蝶形椎を認めた．生後4カ月時，右小眼球，両視神経乳頭欠損，両眼に境界鮮明黄白色の網膜脈絡膜病巣の散在，左眼後極部に限局性浮腫状病巣を認めた．螢光眼底上両眼に共通な病巣はwindow defectと部分的脈絡膜血管充盈欠損像，左眼浮腫状病巣はpoolingを呈した．前者は網膜色素上皮と脈絡膜の萎縮，後者は網膜色素上皮剥離と考えた．

A female baby was diagnosed as Aicardi's syn-drome at the age of 2 months. She manifested agenesis of corpus callosum, generalized tonic convulsions with asynchronous periodic EEG, but-terfly-shaped thoracic vertebra, markedly retarded psychomotor development, peculiar chorioretino-pathy in both eyes and microphthalmos in the right eye.

Both eyes manifested coloboma of the optic disc and desseminated, well-defined yelloiwsh-white chorioretinal lesions. Turbid edematous lesion was seen in the posterior pole of the left eye. By fluo-rescein angiography, both eyes showed window dc-fects at the level of the retinal pigment epithelium and partial filling defects of choroidal vessels. The edematous lesion in the posterior pole in the left eye showed early-onset and non-progressive dye pooling suggesting detachment of the retinal pigment epi-thelium. Visual evoked potential studies indicated the presence of an anomaly along the left optic nerve between the optic disc and the chiasm. Above findings indicate that the chorioretino-pathy in Aicardi's syndrome is associated with an anomaly in the retinal pigment epithelium and the choroid.