Kawanami T, Kato T, Daimon M, Tominaga M, Sasaki H, Maeda K, Arai S, Shikama Y, Katagiri T
Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.
J Neurol Neurosurg Psychiatry. 1996 Nov;61(5):506-9. doi: 10.1136/jnnp.61.5.506.
A 58 year old patient with dementia, oral dyskinesia, and diabetes mellitus is described. He had an undetectable concentration of serum caeruloplasmin, as an autosomal recessive trait. Brain MRI disclosed a pronounced hypointensity in the bilateral putamina, caudate, and dentate nuclei on both T1 and T2 weighted images. Pathological findings were mainly in those regions of the brain and consisted of neuronal cell loss with gliosis, heavy iron deposition, and spheroids. Visceral organs also had iron deposition, especially severe in the liver and pancreas. The present patient and other recorded cases constitute a clinicopathological entity of hereditary caeruloplasmin deficiency, different from Wilson's disease.
描述了一名58岁患有痴呆、口腔运动障碍和糖尿病的患者。他具有常染色体隐性遗传特征，血清铜蓝蛋白浓度检测不到。脑部MRI显示，在T1加权和T2加权图像上，双侧壳核、尾状核和齿状核有明显的低信号。病理结果主要出现在大脑的这些区域，包括神经元细胞丢失伴胶质增生、大量铁沉积和球形小体。内脏器官也有铁沉积，在肝脏和胰腺中尤为严重。本患者及其他已记录病例构成了一种遗传性铜蓝蛋白缺乏的临床病理实体，与威尔逊病不同。
