Chakravarty Ambar, Mukherjee Angshuman, Sen Ansu
Department of Neurology, Vivekananda Institute of Medical Sciences, Calcutta, India.
Pediatr Neurol. 2003 Aug;29(2):170-2. doi: 10.1016/s0887-8994(03)00231-5.
The clinical features of two children of a family with rapidly progressive extrapyramidal-pyramidal-dementia complex have been described. Inheritance seems most likely to be autosomal recessive. Magnetic resonance imaging results of brain were negative. Even so, the authors argued in favor of a diagnosis of Hallervorden-Spatz disease because the cases fulfilled the clinical criteria for diagnosis of this disease. Apart from the negative magnetic resonance findings, the other unusual feature was the early development of levodopa-induced dyskinesia. Few conditions need to be considered in the differential diagnosis of a childhood-onset rapidly progressive extrapyramidal syndrome. Such conditions include Wilson's disease, Hallervorden-Spatz disease (HSD), juvenile form of Huntington's disease, juvenile neuronal ceroid lipofuscinosis, early-onset Machado-Joseph disease neuroacanthocytosis, storage disorders, and variant form of dopa-response dystonias (DRD). Rarer conditions are Leigh's disease, Lafora body disease, and dentato-rubro-pallido-luysian atrophy. HSD is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. Onset is most commonly in late childhood or early adolescence. The disease can be familial or sporadic. When familial, it is inherited recessively and has been linked to chromosome 20. Recently, a mutation in the pantothenate kinase (PANK2) gene on band 20pl3 has been described in patients with typical HSD. HSD produces typical magnetic resonance imaging (MRI) changes in brain, aiding in antemortem diagnosis. The typical finding is of bilaterally symmetrical hyperintense signal changes in the external segment of globus pallidus, with surrounding hypointensity on T(2)-weighted image. These imaging features are fairly diagnostic and have been termed the "eye-of-the tiger sign". The hyperintensity represents pathologic changes, including gliosis, demyelination, neuronal loss, and axonal swelling, and the surrounding hypointensity is caused by loss of signal secondary to iron deposition. Described herein are the clinical aspects of a family with autosomal recessive inheritance with rapidly progressive extrapyramidal-pyramidal-dementia complex but with negative brain MRI results. The diagnosis should be considered a variant form of HSD.
本文描述了一个患有快速进展性锥体外系 - 锥体束 - 痴呆综合征的家族中两名儿童的临床特征。遗传方式似乎最可能为常染色体隐性遗传。脑部磁共振成像结果为阴性。即便如此，作者仍主张诊断为哈勒沃登 - 施帕茨病（Hallervorden - Spatz disease），因为这些病例符合该疾病的临床诊断标准。除了磁共振成像结果为阴性外，另一个不寻常的特征是左旋多巴诱发的运动障碍出现较早。儿童期起病的快速进展性锥体外系综合征的鉴别诊断需要考虑的情况较少。这些情况包括威尔逊病（Wilson's disease）、哈勒沃登 - 施帕茨病（HSD）、青少年型亨廷顿病（Huntington's disease）、青少年神经元蜡样脂褐质沉积症（juvenile neuronal ceroid lipofuscinosis）、早发型马查多 - 约瑟夫病（Machado - Joseph disease）、神经棘红细胞增多症（neuroacanthocytosis）、贮积病以及多巴反应性肌张力障碍（DRD）的变异型。更罕见的情况有利氏病（Leigh's disease）、拉福拉体病（Lafora body disease）和齿状红核苍白球路易体萎缩症（dentato - rubro - pallido - luysian atrophy）。哈勒沃登 - 施帕茨病是一种罕见的疾病，其特征为进行性锥体外系功能障碍和痴呆。发病最常见于儿童晚期或青春期早期。该疾病可为家族性或散发性。家族性时，呈隐性遗传，且与20号染色体相关。最近，在典型哈勒沃登 - 施帕茨病患者中发现了位于20p13带的泛酸激酶（PANK2）基因突变。哈勒沃登 - 施帕茨病在脑部会产生典型的磁共振成像（MRI）变化，有助于生前诊断。典型表现为苍白球外侧段在T2加权图像上呈双侧对称的高信号改变，周围伴有低信号。这些影像学特征具有较高的诊断价值，被称为“虎眼征”。高信号代表病理改变，包括胶质增生、脱髓鞘、神经元丢失和轴突肿胀，而周围的低信号是由铁沉积导致的信号丧失引起的。本文描述了一个具有常染色体隐性遗传、患有快速进展性锥体外系 - 锥体束 - 痴呆综合征但脑部MRI结果为阴性的家族的临床情况。该诊断应被视为哈勒沃登 - 施帕茨病的一种变异型。
