Kobari M, Nogawa S, Sugimoto Y, Fukuuchi Y
Department of Neurology, School of Medicine, Keio University, Tokyo, Japan.
Neurology. 1997 Mar;48(3):645-9. doi: 10.1212/wnl.48.3.645.
We report a family with brain calcification, predominantly in the basal ganglia, and no evident cause such as abnormal calcium or phosphorus metabolism. The proband, a 48-year-old man, had intellectual decline, parkinsonism, and mild cerebellar ataxia. He had bilateral and symmetric calcification of the basal ganglia, thalamus, dentate nucleus, cerebral cortex, subcortical white matter, and hippocampus on CT. Calcified areas showed low- or high-intensity signals on MRI T1-weighted images, and low-intensity signals on MRI T2-weighted images. Two sons and both parents, all asymptomatic, also showed calcification of the basal ganglia, suggesting an autosomal dominant inheritance. Familial idiopathic brain calcification is a rare disorder with less than 20 previously reported families. Twelve families with autosomal dominant inheritance showed a relatively homogeneous clinical picture, which may represent a distinct clinical entity. Mental deterioration, parkinsonism, and cerebellar ataxia appear in adult life and progress gradually. CT imaging, rather than MRI, is a simple and useful means to screen family members for this condition.
我们报告了一个家族，其脑部主要在基底神经节出现钙化，且无诸如钙或磷代谢异常等明显病因。先证者是一名48岁男性，有智力衰退、帕金森综合征和轻度小脑共济失调。他的CT显示基底神经节、丘脑、齿状核、大脑皮层、皮层下白质和海马体存在双侧对称钙化。钙化区域在MRI T1加权图像上显示为低信号或高信号，在MRI T2加权图像上显示为低信号。两个儿子以及父母均无症状，但也显示出基底神经节钙化，提示为常染色体显性遗传。家族性特发性脑钙化是一种罕见疾病，此前报道的家族不到20个。12个常染色体显性遗传家族呈现出相对一致的临床症状，这可能代表一种独特的临床实体。精神衰退、帕金森综合征和小脑共济失调在成年期出现并逐渐进展。CT成像而非MRI是筛查该家族成员是否患有此病的简单且有用的方法。
