Qaiser Rabia, Scott R Michael, Smith Edward R
Department of Neurosurgery, Children's Hospital, Harvard Medical School, Boston, Mass., USA.
Pediatr Neurosurg. 2009;45(1):69-72. doi: 10.1159/000204907. Epub 2009 Mar 4.
Our group, along with others, has previously reported associations between moyamoya syndrome and a number of genetic disorders, including Down syndrome, Seckel dwarfism, sickle cell disease, and neurofibromatosis type I. Here we present the first reported case of a patient with the concomitant diagnosis of moyamoya and Robinow syndrome - a rare genetic disorder characterized by fetal-like faces, mesomelic shortening of the forearms, and developmental delay. The clinical, radiographic, and surgical findings are described, as well as the importance of this association.
Case report.
A 13-year-old girl with Robinow syndrome presented with multiple transient ischemic attacks consisting of speech arrest and generalized weakness. Evaluation revealed probable bilateral moyamoya syndrome. Initially, she was treated conservatively due to the rarity of her symptoms and relatively unremarkable angiographic findings. However, she ultimately had progression of her disease both clinically and radiographically, leading to surgical management. She underwent staged bilateral pial synangiosis without complication and has done well subsequently.
The potential difficulty of detecting symptoms related to cerebral ischemia in the Robinow's population - where cognitive impairment may obscure initial neurologic symptoms - can result in delayed diagnosis and treatment. Given the excellent outcomes of moyamoya patients when treated prior to the development of fixed neurologic deficits, case reports such as this and identifying syndromic associations serve to highlight conditions that may result in improved patient outcomes through earlier diagnosis and treatment. The clinical and radiographic features of moyamoya syndrome associated with Robinow syndrome seem comparable to those of primary moyamoya disease. The presence of moyamoya syndrome should be considered in the evaluation of patients with Robinow syndrome who present with transient ischemic attack-like symptoms.
我们团队与其他团队之前曾报道过烟雾病综合征与多种遗传疾病之间的关联，包括唐氏综合征、塞克尔侏儒症、镰状细胞病和I型神经纤维瘤病。在此，我们报告首例同时诊断为烟雾病和罗宾诺综合征的患者——罗宾诺综合征是一种罕见的遗传疾病，其特征为胎儿样面容、前臂中肢短小和发育迟缓。本文描述了该病例的临床、影像学及手术结果，以及这种关联的重要性。
病例报告。
一名患有罗宾诺综合征的13岁女孩出现多次短暂性脑缺血发作，表现为言语停顿和全身无力。评估显示可能患有双侧烟雾病综合征。最初，由于其症状罕见且血管造影结果相对不明显，对她进行了保守治疗。然而，她的病情最终在临床和影像学上均有所进展，导致需进行手术治疗。她接受了分期双侧软脑膜血管吻合术，未出现并发症，术后恢复良好。
在罗宾诺综合征患者群体中，检测与脑缺血相关症状存在潜在困难——认知障碍可能掩盖最初的神经症状——这可能导致诊断和治疗延迟。鉴于烟雾病患者在出现固定神经功能缺损之前接受治疗可取得良好疗效，此类病例报告以及识别综合征关联有助于凸显那些通过早期诊断和治疗可能改善患者预后的情况。与罗宾诺综合征相关的烟雾病综合征的临床和影像学特征似乎与原发性烟雾病相似。对于出现短暂性脑缺血发作样症状的罗宾诺综合征患者，在评估时应考虑烟雾病综合征的存在。
