Objective To explore the clinical features of classic late infantile neuronal ceroid lipofuscinosis (LINCL). Method The clinical data, EEG data and MRI data of two patients diagnosed by gene in our hospital were collected to analyze the characteristics of LINCL. Results The onset age of the two patients is 3 years old . Seizure is the main symptom. They were drug refractory epilepsy. Case 1 patient presented the progressive motor and cognitive function deterioration within one year. MRI showed the cerebellar atrophy. The gene detection found TPPI complex heterozygous mutation and TPPI enzyme activity was significantly lower than normal. Case 2 patient developed the progressive myoclonic epilepsy. The patient presented the progressive motor, cognitive function deterioration and vision loss, and ultimately developed the vegetable status. MRI showed the progressive cerebral and cerebellar atrophy. The gene detection found TPPI complex heterozygous mutation. Conclusion Classic LINCL is a uniformly fatal lysosomal storage disease resulting from mutations in the CLN2 gene. The patients present the progressive cerebral and cerebellar atrophy. The prominent neurodegenerative features include vision loss, seizures, ataxia,motor and cognitive function deterioration.%目的 探讨经典的晚婴型神经元蜡样脂褐质沉积症(LINCL)患者的临床特点.方法 收集本院经基因确诊的2例患者临床资料、EEG及MRI资料,分析LINCL患者的特点.结果 2例患者均3岁起病,以癫痫发作为主要症状,均表现为药物难治性癫痫,例1起病1年内出现进行性运动及智能倒退,头颅MRI提示小脑萎缩,基因检测发现TPPI复合杂合突变,TPPI酶活性明显低于正常.例2起病后发展为进行性肌阵挛癫痫,出现进行性运动、智力和视力倒退,最终发展为植物状态.头颅MRI提示进行性大脑及小脑萎缩,基因检测发现TPPI复合杂合突变.结论 本文2例经典的LINCL是一种由于CLN2基因突变所致的致命性溶酶体贮积病,进行性大脑及小脑萎缩,主要表现为视力丧失、共济失调、癫痫以及精神运动倒退.
展开▼
