Department of General Medicine, IPGMER and SSKM Hospital, Kolkata, India.
Department of Neuromedicine, Bangur Institute of Neurosciences, IPGMER and SSKM Hospital, Kolkata, India.
J Neurol. 2019 Nov;266(11):2838-2847. doi: 10.1007/s00415-019-09497-5. Epub 2019 Aug 17.
Moyamoya angiopathy (MMA) is a rare cerebrovascular disease with progressive bilateral narrowing of intracranial parts of the internal carotid artery and proximal parts of the anterior and middle cerebral artery resulting in recurrent hemodynamic ischemic attacks, strokes and hemorrhages. If associated with other diseases, it is called Moyamoya syndrome (MMS). Until now, MMS has rarely been described with thalassemia.
Of the 75 cases of MMA collected in our Indian center in the last 3 years, 4 new patients with the rare cooccurence of thalassemia and MMS were found. Thalassemia cases were confirmed by hemoglobin electrophoresis and MMA was diagnosed on the basis of MR angiography. Other known secondary causes of MMA were ruled out by relevant investigations. Thirteen previously reported cases of thalassemia and MMA were retrieved by literature search in PubMed and Google Scholar using the keywords "Moyamoya" AND "thalassemia". Subsequently all the data were analyzed and compared by using descriptive statistics.
Analysis of our 4 cases and those 13 found in the literature showed early childhood diagnosis of thalassemia and in most cases later manifestation of MMS in the age of 14.5 + 10.72 years (mean + SD) in our cases and with 10.97 + 6.47 years in previous cases. While 9 out of the former 13 and 3 of our 4 cases showed obvious infarcts in brain imaging, 1 case with HbE-β-thalassemia presented with intracerebral hemorrhage. Hemiplegia/hemiparesis was present among all of our 4 cases, while it was present in 69.23% cases of the previous 13 reports. Neither transfusion dependence nor the history of splenectomy was found to be associated with MMA development.
These four new cases of MMS in thalassemia enlarged our knowledge about MMS in patients with thalassemia. MMS is a relevant complication in patients with thalassemia and early detection is essential to avoid disability.
烟雾病（MMA）是一种罕见的脑血管疾病，其特征是颈内动脉颅内段及大脑前、中动脉近端进行性狭窄，导致反复发作的血流动力学性缺血性发作、卒中和出血。如果合并其他疾病，则称为烟雾病综合征（MMS）。到目前为止，MMS 很少与地中海贫血症同时发生。
在过去 3 年中，我们在印度中心共收集了 75 例 MMA 病例，其中发现了 4 例罕见的同时患有地中海贫血症和 MMS 的新患者。通过血红蛋白电泳证实了地中海贫血症的诊断，根据磁共振血管造影诊断了 MMA。通过相关检查排除了其他已知的 MMA 继发性病因。通过在 PubMed 和 Google Scholar 中使用“Moyamoya”和“thalassemia”关键词检索文献，检索到 13 例先前报道的地中海贫血症和 MMA 病例。随后对所有数据进行分析和比较，采用描述性统计。
对我们的 4 例病例和文献中发现的 13 例病例进行分析，发现这些患者均在儿童早期被诊断为地中海贫血症，且大多数患者在 14.5±10.72 岁（平均值±标准差）时出现 MMS，而在之前的病例中为 10.97±6.47 岁。在之前的 13 例病例中，有 9 例和我们的 4 例病例中均有明显的脑影像学梗死，而 1 例 HbE-β-地中海贫血症患者则表现为颅内出血。我们的 4 例病例均有偏瘫/轻偏瘫，而之前的 13 例报告中有 69.23%的病例存在这种情况。我们没有发现输血依赖或脾切除术史与 MMA 发展有关。
这 4 例新的地中海贫血症合并 MMS 病例增加了我们对地中海贫血症患者 MMS 的认识。MMS 是地中海贫血症患者的一种相关并发症，早期发现对于避免残疾至关重要。
