Hereditary caeruloplasmin deficiency: Clinicopathological study of a patient
Hereditary caeruloplasmin deficiency: Clinicopathological study of a patient
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DOI：
10.1136/jnnp.61.5.506
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发表时间：
1996-11-01
影响因子：
11
通讯作者：
Katagiri, T
中科院分区：
文献类型：
--
作者：
Kawanami, T;Kato, T;Katagiri, T
一个58岁的病人患有痴呆症，口腔运动障碍，糖尿病。他的血清铜蓝蛋白浓度检测不到，这是一种常染色体隐性遗传性状。脑MRI显示在T1和T2加权图像上双侧壳核、尾状核和齿状核明显低信号。病理学结果主要发生在脑的这些区域，包括神经元细胞丢失伴神经胶质增生、重铁沉积和球状体。内脏器官也有铁沉积，尤其是肝脏和胰腺。目前的病人和其他记录的情况下，构成了遗传性铜蓝蛋白缺乏症的临床病理实体，从威尔逊病不同。
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.