Hickman S J, Ward N S, Surtees R A, Stevens J M, Farmer S F
Department of Neurology, The National Hospital for Neurology and Neurosurgery, London, UK.
Acta Neurol Scand. 2001 Mar;103(3):201-3. doi: 10.1034/j.1600-0404.2001.103003201.x.
Magnetic resonance imaging (MRI) has enabled ante mortem diagnosis of Hallervorden Spatz disease (HSD). Childhood-onset cases are the most common type and usually present with progressive dystonia and dementia. The duration of illness is 15 to 20 years, leading to death. Presentation in adulthood and infancy have also been reported, however again the progression is usually inexorable. We present a 30-year-old woman who developed cognitive and motor developmental delay from the age of 8 months. There was further cognitive decline in her late teenage years with seizures and then more recent motor decline with dystonia. The imaging appearance was of iron deposition in the globus pallidus and substantia nigra leading to a diagnosis of HSD. The increased availability of MRI has allowed more cases of HSD to be diagnosed in life but as our case illustrates classification of the disease may need to be further examined.
磁共振成像（MRI）已能够在生前诊断哈勒沃登-施帕茨病（HSD）。儿童期起病的病例是最常见的类型，通常表现为进行性肌张力障碍和痴呆。病程为15至20年，最终导致死亡。也有成年期和婴儿期发病的报道，然而病情进展通常也是不可阻挡的。我们报告一名30岁女性，她从8个月大时开始出现认知和运动发育迟缓。在青少年后期出现进一步的认知衰退并伴有癫痫发作，近期又出现运动功能衰退并伴有肌张力障碍。影像学表现为苍白球和黑质有铁沉积，从而诊断为HSD。MRI的普及使得更多HSD病例能够在生前被诊断出来，但正如我们的病例所示，该病的分类可能需要进一步研究。
