Costello D J, Walsh S L, Harrington H J, Walsh C H
Department of Neurology and Medicine, Mercy Hospital, Grenville Place, Cork, Ireland.
J Neurol Neurosurg Psychiatry. 2004 Apr;75(4):631-3. doi: 10.1136/jnnp.2003.027441.
Hereditary haemochromatosis (HH) is a genetic disorder in which abnormal iron handling leads to excessive iron accumulation in systemic tissues. Magnetic resonance imaging studies suggest excess iron deposition in the basal ganglia of patients with HH. The symptoms of neurological complications of HH include cognitive decline, gait difficulties, cerebellar ataxia, and extrapyramidal dysfunction, but idiopathic Parkinson's disease, in which brain iron deposition is normal, has not been reported. We describe four patients with concurrent HH and IPD. Although three of the cases had risk factors for cerebrovascular and cardiovascular disease, computed tomography did not show ischaemic changes in the basal ganglia. We speculate that in these cases, abnormal deposition of iron in the basal ganglia induced the symptoms of IPD.
遗传性血色素沉着症(HH)是一种遗传性疾病,其中铁代谢异常会导致全身组织中铁过量蓄积。磁共振成像研究表明,HH患者基底神经节存在铁沉积过多的情况。HH神经并发症的症状包括认知能力下降、步态困难、小脑共济失调和锥体外系功能障碍,但尚未有脑铁沉积正常的特发性帕金森病的报道。我们描述了4例同时患有HH和特发性帕金森病(IPD)的患者。尽管其中3例有脑血管和心血管疾病的危险因素,但计算机断层扫描未显示基底神经节有缺血性改变。我们推测,在这些病例中,基底神经节中铁的异常沉积诱发了IPD的症状。