Department of Pediatric Dermatology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
Department of Radiology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
Pediatr Dermatol. 2020 Jan;37(1):162-164. doi: 10.1111/pde.14029. Epub 2019 Nov 20.
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a rare condition associated with mutations in the genes RASA1 and EPHB4. We present a challenging case of CM-AVM in a 17-month-old boy with permanent diplegia from an undiagnosed arteriovenous malformation underlying a large atypical capillary malformation over the lower thoracic spine. This case demonstrates that clinicians should have a low threshold for neuroimaging in the context of new neurologic symptoms in patients with atypical capillary malformations.
毛细血管畸形-动静脉畸形综合征（CM-AVM）是一种罕见的疾病，与 RASA1 和 EPHB4 基因突变有关。我们报告了一例 17 个月大男孩的 CM-AVM 病例，该男孩因位于下胸段脊柱的大型非典型毛细血管畸形下的未诊断的动静脉畸形而导致永久性双瘫。该病例表明，对于具有非典型毛细血管畸形的患者出现新的神经症状，临床医生应降低神经影像学检查的阈值。
