[Clinical, genetic and pathological features of neuronal ceroid lipofuscinosis in 5 Chinese patients].

Objective: To report the clinical, genetic and ultrastructural pathological features of neuronal ceroid lipofuscinosis (NCLs) in 5 Chinese patients. Methods: A total of 5 patients with NCLs were collected from 2013 to 2015 diagnosed by the department of pediatrics of Beijing Tian Tan Hospital. Their clinical, electrophysiological and neuroimaging data of the patients were reviewed.A total of 9 underlying genes of NCLs were tested in 4 cases and their parents.Ultrastructural pathology by skin biopsy was performed in 3 cases respectively. Results: We identified two novel homozygous mutations and one novel heterozygous pathogenic mutation in 3 patients. The confirmed mutations included c. 1153G >C (p.Gly385Arg) MFSD8 homozygous mutation, c 321-1G >A CLN5 intron splice site homozygous mutation and c 407G >A (p.Arg136His)CLN6 heterozygous mutation, which had never been reported before. While no gene mutation was detected in the rest 1 case. Among the 3 cases received electron microscope testing of skin biopsy, 2 presented with fingerprint inclusions mixed with granular osmiophilic deposits, rectilinear profiles mixed with granular osmiophilic deposits were noted in another case. Conclusions: The patients of NCLs caused by the mutations of MFSD8, CLN5 and CLN6 genes in Chinese population were firstly reported in this study. There are some relevence between genotype, pathomorphology and clinical presentation of NCLs. The pathomorphology is still a gold standard for the diagnosis of NCLs.