Department of Dermatology and Venereology, Hospital de Braga, Braga, Portugal.
Pediatr Dermatol. 2022 Jul;39(4):662-663. doi: 10.1111/pde.15001. Epub 2022 May 3.
A 23-day-old boy with prenatal diagnosis of basilar artery aneurysm presented with multiple congenital red patches consistent with capillary malformations. Genetic testing confirmed the presence of a heterozygous pathogenic variant of the RASA1 gene, confirming the diagnosis of capillary malformation-arteriovenous malformation (CM-AVM) syndrome. This case illustrates an atypical presentation of the RASA1 associated CM-AVM syndrome, with the intracranial vascular malformation diagnosis preceding the identification of the skin lesions. Arterial aneurysms have been associated with CM-AVM syndrome in rare instances but to our knowledge this is the first reported case of an aneurysm of the basilar artery.
一名 23 天大的男婴，产前诊断为基底动脉动脉瘤，表现为多个先天性红色斑块，符合毛细血管畸形。基因检测证实存在 RASA1 基因的杂合致病性变异，确诊为毛细血管畸形-动静脉畸形（CM-AVM）综合征。本例说明了 RASA1 相关 CM-AVM 综合征的一种非典型表现，颅内血管畸形的诊断先于皮肤病变的发现。在罕见情况下，动脉动脉瘤与 CM-AVM 综合征有关，但据我们所知，这是首例基底动脉动脉瘤的报道病例。
