Hagiwara N, Ooboshi H, Ishibashi M, Kurushima H, Kitazono T, Ibayashi S, Iida M
Department of Medicine, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan.
Eur J Neurol. 2006 May;13(5):539-43. doi: 10.1111/j.1468-1331.2006.01345.x.
In this study, we report the case of a 68-year-old man complaining of involuntary movement of his left shoulder and lower jaw plus dyspnea. On cranial computed tomography and magnetic resonance imaging, marked and symmetrical calcification at the basal ganglia and dentate nuclei was documented. An elevated cerebrospinal fluid (CSF) lactate level was confirmed by spinal tap examination and magnetic resonance spectroscopy. The raised CSF lactate level, clinical characteristics such as diabetes, bilateral hearing loss and symmetrical cerebral calcification strongly suggested some kinds of mitochondrial disease. However, gene analysis of peripheral blood leukocytes revealed no typical or known mutations. Under the diagnosis of Fahr's disease, we treated him with haloperidol, which completely abolished his symptoms. In Ellsworth-Howard test, he showed markedly decreased phosphaturic response to parathyroid hormone with same pattern as type 2 pseudohypoparathyroidism. This abnormal response in our patient, probably due to respiratory alkalosis reflecting chronic hyperventilation, might in part explain similar mechanism of ectopic calcification underlying these two diseases.
在本研究中，我们报告了一例68岁男性病例，该患者主诉左肩和下颌不自主运动并伴有呼吸困难。头颅计算机断层扫描和磁共振成像显示，基底神经节和齿状核有明显的对称性钙化。通过腰椎穿刺检查和磁共振波谱证实脑脊液（CSF）乳酸水平升高。脑脊液乳酸水平升高、糖尿病等临床特征、双侧听力丧失和对称性脑钙化强烈提示为某种线粒体疾病。然而，外周血白细胞的基因分析未发现典型或已知突变。在诊断为 Fahr病后，我们用氟哌啶醇对他进行治疗，症状完全消失。在埃尔斯沃思 - 霍华德试验中，他对甲状旁腺激素的磷尿反应明显降低，与2型假性甲状旁腺功能减退的模式相同。我们患者的这种异常反应可能是由于反映慢性过度通气的呼吸性碱中毒，这可能部分解释了这两种疾病异位钙化的相似机制。
