临床神经病学杂志2018，Vol.31Issue(6)：462-464,3.
婴儿型神经元腊样质脂褐质沉积症的临床特点(附1例报告)
Clinical characteristics of infantile neuronal lipofuscin deposition (report of 1 case)
摘要
Abstract
Objective To investigate the clinical characteristics of infantile neuronal lipofuscin deposition. Methods The clinical data of one patient with infantile neuronal lipofuscin deposition was retrospectively analyzed. Results The patient was a two years old boy,with infantile onset and the main clinical symptoms were developmental delays of psychomotor and even developmental regression. When the patient was 1 year and 6 months old,the brain MRI showed cerebral atrophy,reduction of white matter around the ventricle and thinning of corpus callosum. When he was 2 years old,cerebral atrophy showed by MRI was more worse than that when he was 1 year and 6 months old. Palmitoyl-protein thioesterase 1 (PPT1)gene detected the pathogenic compound heterozygous mutation:c.550G＞A (p.E184K)and c.362+5G＞A. Conclusions Infancy with cognitive,motor backwardness or even retrogression may prompt INCL,and it will be more vigilant if cerebral atrophy is detected by the brain MRI. Genetic testing conducted resulted in the diagnosis of infantile neuronal ceroid lipofuscinosis.关键词
神经元蜡样质脂褐质沉积症/MRI/棕榈酰蛋白质硫酯酶1Key words
neuronal lipofuscin deposition/MRI/palmitoyl-protein thioesterase 1分类
医药卫生引用本文复制引用
周露露,盛会雪,金波,徐谨,郑帼,何燕..婴儿型神经元腊样质脂褐质沉积症的临床特点(附1例报告)[J].临床神经病学杂志,2018,31(6):462-464,3.基金项目
南京医科大学科技发展基金项目(2017NJMU072) （2017NJMU072）
