Zafeiriou Dimitrios I, Economou Marina, Athanasiou-Metaxa Miranta
1st Department of Pediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Greece.
Brain Dev. 2006 Sep;28(8):477-81. doi: 10.1016/j.braindev.2006.02.005. Epub 2006 Mar 29.
Over the years, several reports have demonstrated involvement of the nervous system in beta-thalassemia patients. Neurological complications have been attributed to various factors such as chronic hypoxia, bone marrow expansion, iron overload, and desferrioxamine neurotoxicity. In most cases, neurological involvement does not initially present with relevant signs or symptoms (i.e., is subclinical) and can only be detected during neurophysiological or neuroimaging evaluation. Abnormal findings in the visual, auditory, and somatosensory evoked potential recordings are mainly attributed to DFO neurotoxicity. On the other hand, nerve conduction velocity abnormalities are associated either to chronic hypoxia and older age or to hemosiderosis, whether by means of pancreas involvement or not. Neuropsychological studies available reveal a considerably high prevalence of abnormal IQ, not correlating, however, to factors such as hypoxia or iron overload. It is proposed that factors associated to severe chronic illness, rather than the disease per se, could be responsible for these findings. Such factors include regular school absence due to transfusions and frequent hospitalizations, physical and social restrictions resulting from the disease and its treatment, abnormal mental state due to the awareness of being chronically ill, and, last, the overly protective family attitude that leads to restricted initiative and psychosocial development. As life expectancy for beta-thalassemia patients extends, the use of neurophysiologic and neuropsychologic monitoring becomes imperative, enabling early detection of neural pathway impairment and allowing for appropriate management, in order to achieve a better life quality for this patient group.
多年来，多项报告表明β地中海贫血患者的神经系统会受到影响。神经并发症归因于多种因素，如慢性缺氧、骨髓扩张、铁过载和去铁胺神经毒性。在大多数情况下，神经系统受累最初并无相关体征或症状（即亚临床状态），只有在神经生理学或神经影像学评估时才能检测到。视觉、听觉和体感诱发电位记录中的异常发现主要归因于去铁胺神经毒性。另一方面，神经传导速度异常与慢性缺氧、年龄较大或血色素沉着症有关，无论是否累及胰腺。现有的神经心理学研究表明智商异常的患病率相当高，然而，这与缺氧或铁过载等因素无关。有人提出，与严重慢性疾病相关的因素，而非疾病本身，可能是这些结果的原因。这些因素包括因输血导致经常缺课和频繁住院、疾病及其治疗造成的身体和社会限制、因意识到患有慢性病而出现的异常精神状态，以及最后，过度保护的家庭态度导致主动性受限和心理社会发展受阻。随着β地中海贫血患者预期寿命的延长，使用神经生理学和神经心理学监测变得势在必行，以便早期发现神经通路损伤并进行适当管理，从而提高该患者群体的生活质量。
