TPP1基因突变致晚期婴儿型神经元蜡样脂褐质沉积症1例

Case report of late infantile neuronal ceroid lipofuscinosis due to TPP1 gene mutation

对2017年苏州大学附属儿童医院神经内科收治的1例晚期婴儿型神经元蜡样脂褐质沉积症患儿的临床资料进行回顾性分析。患儿,女,4岁,2岁10个月时因"1 d内抽搐2次"就诊,此后频繁出现抽搐,运动、语言及智力进行性倒退。表现为走路不稳,呈醉酒状,易摔倒,持物手抖,言语迟钝,表情淡漠,缺乏眼神语言交流,生活无法自理,仅有1岁多儿童的智商。头颅磁共振成像示小脑萎缩;脑电图示全导高波幅棘慢波、多棘慢波爆发;基因检测:TPP1基因2个杂合变异c.230-1G>C和c.1027G>A(p.E343K),且变异为"可能致病"。提示对存在难治性癫痫、共济失调、运动语言发育落后,及头颅磁共振成像显示小脑萎缩等表现的患儿,应及时行基因检测,以尽早明确诊断、指导产前诊断和遗传咨询。

A retrospective analysis was performed on the clinical data of a case of late infantile neuronal ceroid lipofuscinosis admitted in the Department of Neurology,Children′s Hospital Affiliated to Soochow University in 2017.The patient was a 4-year-old girl,who was hospitalized because of"2 convulsions in 1 day"at 2 years and 10 months old.Since then,she had convulsions and progressive regression of motor,language and intelligence frequently.The clinical feature of the patient included unstable walking,drunkenness,easy falling,shaking hands with objects,hypophrasia,prostation,lack of eye language communication,inability to take care of herself,and intelligence quotient of 1-year-old child.Brain magnetic resonance imaging(MRI)showed cerebellar atrophy;the electroencephalogram suggested spike slow wave and multi-spike slow wave burst with high amplitude.Gene detection:2 heterozygous variants of TPP1 gene,namely c.230-1G>C and c.1027G>A(p.e343k),and they were"possibly pathogenic".Patients with intractable epilepsy,ataxia,motor language retardation,and cerebellar atrophy on MRI should undergo gene detection should in time,so as to make clear diagnosis and guide prenatal diagnosis and genetic consultation as early as possible.