Rattani Abbas, Dewan Michael C, Hannig Vickie, Naftel Robert P, Wellons John C, Jordan Lori C
School of Medicine, Meharry Medical College, Nashville.
Division of Pediatric Neurosurgery, Department of Neurological Surgery, and.
J Neurosurg Pediatr. 2017 Aug;20(2):164-169. doi: 10.3171/2017.3.PEDS16587. Epub 2017 May 19.
The authors present a case of monozygotic twins with hereditary hemorrhagic telangiectasia (HHT) who experienced cerebral arteriovenous malformation (AVM) hemorrhage at a very young age. The clinical variables influencing HHT-related AVM rupture are discussed, and questions surrounding the timing of screening and intervention are explored. This is only the second known case of monozygotic HHT twins published in the medical literature, and the youngest pair of first-degree relatives to experience AVM-related cerebral hemorrhage. Evidence guiding the screening and management of familial HHT is lacking, and cases such as this underscore the need for objective and validated protocols.
作者报告了一例患有遗传性出血性毛细血管扩张症（HHT）的单卵双胞胎病例，这对双胞胎在非常年幼时就发生了脑动静脉畸形（AVM）出血。文中讨论了影响与HHT相关的AVM破裂的临床变量，并探讨了围绕筛查和干预时机的问题。这是医学文献中已知的第二例单卵HHT双胞胎病例，也是经历与AVM相关脑出血的最年轻的一级亲属对。目前缺乏指导家族性HHT筛查和管理的证据，这样的病例凸显了客观且经过验证的方案的必要性。
