Analysis of diagnosis of 5 children with suspected neuronal ceroid lipofuscinosis / 中国实用儿科杂志

ABSTRACT

OBJECTIVE: To investigate diagnosis of children's neuronal ceroid lipofuscinosis(NCL),especially the significance of gene diagnosis. METHODS: The clinical data of 5 cases of suspected NCL in our hospital from January 2013 to January 2017 were retrospectively analyzed. There were 3 boys and 2 girls,2 of whom were sister and brother. The age of onset ranged from 3 years and 4 months to 8 years and 1 month,averaged 5 years and 9 months. The first visit to our hospital ranged from 3 years and 6 months to 14 years,with an average of 8 years and 1 month. DNA of peripheral blood was extracted from 4 children with abnormal imaging and their parents and brothers,and the related genes were detected.RESULTS: Four cases of children were diagnosed with NCL,and 1 case was diagnosed with hysteria;gene detection showedcase 1TPP1 gene c.887-17 A>G was a shearing variant,and c.646 G>A was a missense mutation;case 2TPP1 gene c.1015＿1016 del was frameshift mutation,and c.640 C>T was nonsense mutation;the nucleotide of case 3CLN6 gene changed to c.158 T>C(p.L53 P)and c.889 C>T(p.P297 S). The parents of the 3 cases only carried one of the heterozygous variants,and the brother of case 3 had no mutation. Heterozygous mutation existed in case 4CLN3 gene,c.1160＿1169 delCAGCCTACGTinsGC,which was not detected in the mother,and there was the deletion of the paternal sample;there was loss of heterozygosity in the exon E3-E8 of the CLN3 gene,which was the true missing from mother.Five cases were followed up for 15-60 months and there was no death. CONCLUSION: Suspected NCL patients should be checked head MRI,electroencephalogram and gene. The gene mutation leads to NCL,such as TPP1(c.887-17 A>G,c.1015＿1016 del),CLN3(c.1160＿1169 delCAGCCTACGTinsGC),CLN6[(c.158 T>C(p.L53 P) and c.889 C>T(p.P297 S)],are reported for the first time. Genotype is very important for NCL classification and prognosis.