论文部分内容阅读
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 investigate the clinical manifestations and imaging features of neuron-like lipofuscin deposition (NCL). Methods The clinical and imaging data of 11 NCL patients confirmed by pathological examination in our hospital were retrospectively analyzed. The clinical and imaging data of 15 NCLs of the same type reported in China were compared and analyzed. Results Twelve of 26 patients were adolescents with NCL, accounting for 46% of all cases, with onset of 3-15 years old. The first symptom was mostly mental retardation or epileptic seizure. Late infant NCL8 cases, accounting for 31%, 1 to 7 years old onset, the first symptom of the performance of epileptic seizures. 4 cases of infant NCL, accounting for 15%, 4 to 9 months after the onset of disease, the first symptom of the performance of intellectual and motor development stagnation. Adult NCL2 cases, 8%, 26 and 32 years of age, with dementia and mental disorders as the first symptom. Magnetic resonance imaging (MRI) features mainly diffuse brain atrophy, some patients with white matter damage, infant and late infantile NCL hypothalamic changes. Conclusions The incidence of NCL patients is mainly adolescent type. The clinical symptoms and appearance of different types of NCL are different, and the imaging changes are similar. Infant and late-onset infants with thalamic damage.