先天性プロテインC欠損症にみられた両眼性白色瞳孔の1例

A case of congenital protein C deficiency with bilateral leukokoria

　先天性プロテインC欠損症にみられた両眼性白色瞳孔の1例を経験した。症例は生後2日男児で，生後1日目より電撃性紫斑，両足底部皮下出血が認められ，血液検査の結果ダブルヘテロ型のプロテインC欠損症と診断され，眼科的精査のため当科を受診した。両白色瞳孔，両浅前房，両虹彩後癒着が認められ，超音波検査の結果，両水晶体後部の白色組織塊が視神経乳頭に連続する所見が認められ，ERGでは両眼ともに著明な減弱を認めた。生後大量の硝子体出血が発生し，それが後に増殖性変化を起こしclosed funel状の網膜剥離となった可能性が大である。新生児期発症のプロテインC欠損症の眼科的報告は稀で貴重な症例の追加と考えられる。

A two days post delivery boy with bilateral leu-kokoria is presented who has protein C deficiency.

Since a day post delivery the patient had ful-minant purpura and bilateral subcutaneus hemor-rhage in the solt of foot.

We diagnosed him as a double heterozygous protein C deficiency after blood inspection.

Ophthalmic complications in protein C deficiency were very rare.

He had bilateral leukokoria, shallow anterior chamber, and posterior synekia.

B scan ultrasonography revealed a white mass behind the lens extending from the optic disk. ERG showed severe low voltage in the both eyes.

We suspected that a large amount of vitreus hemorrhage occured, and followed by proliferative change with a closed funnel-shaped retinal detach-ment.