涙囊鼻腔吻合術鼻内法を施行したCornelia de Lange症候群に伴う先天性鼻涙管閉塞症の小児例

A case of Cornelia de Lange syndrome with congenital nasolacrimal duct obstruction requiring endoscopic dacryocystorhinostomy

はじめに

　先天性鼻涙管閉塞症（congenital nasolacrimal duct obstruction：CNLDO）は新生児の6〜20％にみられる頻度の高い疾患であり^1），多くは保存療法あるいはブジーで治癒するが，なかには治療に難渋する場合もある。Cornelia de Lange症候群（CdLS）は奇形症候群の1つで，眼科的異常（融合した眉毛，長くカールした睫毛など）をはじめとする特異的顔貌を呈し，涙道疾患の合併も稀でない^2）。今回，CdLSに伴う，骨性鼻涙管の異常が疑われたCNLDOに対し，涙囊鼻腔吻合術鼻内法（endoscopic dacryocystorhinostomy：EnDCR）を施行した小児例を経験したので報告する。

　Cornelia de Lange syndrome is sometimes accompanied by ophthalmologic manifestations. Here, we report a pediatric case of Cornelia de Lange syndrome with congenital nasolacrimal duct obstruction requiring endoscopic dacryocystorhinostomy.

　A five-year-old boy who initially presented with left epiphora and discharge was referred to our department to undergo lacrimal surgery for persistent congenital nasolacrimal duct obstruction. He had been diagnosed with Cornelia de Lange syndrome. Computed tomography-dacryocystography showed left nasolacrimal duct obstruction with bony nasolacrimal canal stenosis. These findings prompted treatment via endoscopic dacryocystorhinostomy without stenting under general anesthesia. A two-year follow-up revealed the absence of epiphora and discharge.