Cutis Marmorata Telangiectatica Congenita with Cerebral and Ophthalmic Anomalies: Report of One Case

先天性大理石網狀血管擴張症合併腦部與眼部異常

穆淑琪(Shu-Chi Mu) ； 洪漢陽(Han-Yang Hung) ； 邱南昌(Nan-Chang Chiu) ； 陳秀琴(Hsiu-Hsin Chen) ； 陳立仁(Li-Jen Chen)

《Acta Paediatrica Sinica》 38卷1期 (1997/02) Pp. 65-68

https://doi.org/10.7097/APS.199702.0065

摘要

一足月男嬰於頭皮、軀幹與四肢出現少見的先天血管異常，皮膚的特徵則以持續性存在的血管擴張網狀紋路爲主。皮膚病理切片顯示皮下微血管及小靜脈數目增多與篾這擴張，依據臨床皮膚病烓診斷爲先天性大理石網狀血管擴張症。除了皮層表徵外，尚有肥腹水、肺積水、持續動脈導管、青光眼、左眼視網膜剝離和右眼眼底血管擴張等異常，此病烓可單獨出現或合併一些相關異常而影響其預後。腦部影像顯示血管異常與續發實質傷害，於一個月大時，病嬰出現持續性癲癇因不及送醫而死亡。本病例合併腦部、眼部異常仍屬罕見。

關鍵字

網狀血管斑痣 ； 先天性大理石網狀務管擴張症 ； 胎兒腹水 ； 視網膜剝離 ； 血管擴張

並列摘要

A term male neonate had an uncommon congenital vascular disorder of the skin covering the whole body and extremities. These skin lesions were characterized by mottling and persistent telangiectasia. A skin biopsy showed nevus vascularis reticularis which was recognized as cutis marmorata telangiectatica con genita. In addition to the cutaneous involvement, the patient also had fetal ascites, pleural effusion, patent ductus arteriosus, glaucoma, retinal detachment in the left eye, and telangiectasia in the right eye. Neonatal focal seizure developed and expired on the 34th day of life. The cerebral image studies suggested vascular anomalies with secondary cerebral parenchymal damage. Cutis marmorata telangiectatica con genita may be solitary but is frequently associated with other developmental defects. However, the specific findings of cerebral and ophthalmic lesions in our case were rather unusual.

並列關鍵字

nevus vascularis reticularis ； cutis marmorata telangiectatica congenital ； fetal ascites ； retinal detachment ； telangiectasia