両眼の網膜血管異常を有する先天性血管拡張性大理石様皮斑の1例

A case of cutis marmorata telangiectatica congenita with retinal vascular abnormalities in both eyes

要約　目的：両眼の網膜血管異常に対して網膜光凝固術を施行した先天性血管拡張性大理石様皮斑（CMTC）の1例を経験したので報告する。

症例：生後3か月，男児。生下時より全身の皮膚所見がみられ，CMTCと診断されていた。両眼の網膜血管の拡張蛇行および伸長不良を指摘され，精査加療目的で紹介受診となった。生後3か月時の蛍光眼底造影検査にて，両眼とも周辺部で全周性の網膜血管の途絶・毛細血管拡張・毛細血管瘤・無灌流領域・蛍光漏出がみられたため，全周性に網膜光凝固術を施行した。生後5か月時に右眼の後極部耳側に新生血管が出現したため，追加の網膜光凝固術を施行した。その後1年6か月の経過観察にて眼底に新規異常血管はみられず，沈静化を得ている。

結論：CMTCの網膜血管異常に対して早期に眼科介入を行い，沈静化を得た。網膜剝離などの合併症を阻止するためには，網膜血管異常への早期介入と経過観察が重要であり，小児科への啓蒙および連携が必要である。

Abstract　Purpose：This report presents a case of cutis marmorata telangiectatica congenita（CMTC） with retinal vascular anomalies in both eyes treated with retinal photocoagulation.

Case：A 3-month-old boy diagnosed with CMTC based on systemic skin findings was referred to our hospital for further examination and the treatment of dilated, tortuous, and poorly elongated retinal vessels in both eyes. Fluorescein fundus angiography（FAG） performed at 3 months of age revealed retinal vascular disconnection, capillary dilation, capillary aneurysms, a non-perfusion area（NPA）, and fluorescence leakage in the periphery of both eyes. Pan-retinal photocoagulation was performed subsequently. An additional retinal photocoagulation was performed at five months of age owing to the appearance of a neovascular vessel on the temporal side of the posterior pole of the right eye. No new abnormal blood vessels in the fundus were observed at the six-month and one-year follow-up examinations. The fundus findings exhibited decreased severity.

Conclusions：Early ophthalmic intervention for retinal vascular abnormalities in patients with CMTC results in disease quiescence. Early intervention and follow-up of retinal vascular abnormalities can help prevent the incidence of complications such as retinal detachment. Pediatricians must be educated about CMTC. Collaboration between the two streams must be encouraged.