神经元腊样质脂褐素沉积病的临床和影像学特点

The clinical and neuroimaging features of neuronal ceroid lipofuscinosis

目的探讨神经元腊样质脂褐素沉积病(NCL)的临床表现规律和影像学特点。方法回顾分析我院经病理检查确诊的11例NCL患者的临床和影像学资料,对比分析国内报道的15例同类型NCL的临床和影像学资料。结果26例患者中青少年型NCL12例,占46%,3～15岁发病,首发症状多为智力减退或癫发作。晚期婴儿型NCL8例,占31%,1～7岁发病,首发症状表现为癫发作。婴儿型NCL4例,占15%,出生后4～9个月发病,首发症状表现为智能和运动发育停滞。成年型NCL2例,占8%,26及32岁发病,以痴呆和精神异常为首发症状。磁共振成像(MRI)特点主要表现为弥漫性脑萎缩,部分患者伴随白质损害,婴儿型和晚期婴儿型NCL出现丘脑改变。结论NCL患者的发病类型以青少年型为主,不同类型的NCL临床症状及出现顺序各异,影像学改变类似,婴儿型及晚发婴儿型伴丘脑损害。

Objective To study the clinical and neuroimaging features of neuronal ceroid lipofuseinosis （NCL） in China. Methods Clinical and radiologieal data of 11 cases of NCL confirmed by pathology in our institution were retrospectively analyzed and compared with those of 15 cases of NCL reported in Chinese literature. Results Twelve eases of 26 patients were juvenile NCLs, was accounting for 46% of all the NCL eases. Most of the onset began at 3--15 years old, with the symptoms of mental retardation and seizures. Eight late infantile NCLs accounted for 31% of the NCLs, who began with seizures at ages of 1--7 years. Four infantile NCLs accounted for 15% of all eases, who presented with progressive motor and mental retardation beginning from 4--9 months old. Two adult NCLs, accounting for 8%, showed dementia and psychiatric symptoms beginning at the age of 26 and 32 years. MRI was characterized by diffuse brain atrophy. Some eases showed white matter impairment. Thalamus was involved in infantile NCL and late infantile NCL. Condusions In this study, the most common form of NCL is juvenile NCL. The clinical symptoms and course of the disease differ between the subgroups. The radiologieal manifestations are similar, except that thalamus is involved in infantile NCL and late infantile NCL.