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)

目的探讨婴儿型神经元腊样质脂褐质沉积症(INCL)的临床特点。方法回顾性分析1例INCL患者的临床资料。结果本例为2岁男童,婴儿期起病,以精神运动发育落后,并出现倒退为主要症状。1岁6个月头颅MRI示:脑萎缩、脑室周围白质减少、胼胝体变薄。2岁头颅MRI:脑萎缩样改变,较1岁6个月MRI进展。棕榈酰蛋白质硫酯酶1(PPT1)基因检测到致病的复合杂合突变:c. 550G> A(p. E184K)和c.362+5G> A。结论婴儿期出现认知、运动落后甚至倒退患儿可能提示INCL,头颅MRI检查若发现脑萎缩更需警惕,确诊通过基因检测。

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.