Analysis of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with hereditary hyperferinemia cataract syndrome
10.3760/cma.j.cn511374-20230112-00025
- VernacularTitle:CLN1型神经元蜡样脂褐质沉积症伴遗传性高铁蛋白血症-白内障综合征1例患儿的分析
- Author:
Fan ZHOU
1
;
Jiandong WANG
;
Yao WANG
;
Haiying LI
;
Yu SU
;
Yongwei WEI
;
Huaili WANG
Author Information
1. 郑州大学第一附属医院儿科 河南省儿童癫痫与免疫医学重点实验室 河南省儿童神经系统疾病临床诊治中心，郑州 450052
- Keywords:
Neuronal ceroid lipofuscin;
PPT1 gene;
Hereditary hyperferritinemia cataract syndrome;
FTL gene
- From:
Chinese Journal of Medical Genetics
2024;41(1):75-80
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical data and genetic characteristics of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with hereditary hyperferritinemia cataract syndrome (HHCS).Methods:A child who was admitted to the PICU of the First Affiliated Hospital of Zhengzhou University in November 2020 was selected as the study subject. Clinical data of the child was collected. Genetic testing was carried out for the child, and the result was analyzed in the light of literature review to explore the clinical and genetic characteristics to facilitate early identification.Results:The patient, a 3-year-old male, had mainly presented with visual impairment, progressive cognitive and motor regression, and epilepsy. Cranial magnetic resonance imaging revealed deepened sulci in bilateral cerebral hemispheres, and delayed myelination. The activity of palmitoyl protein thioesterase was low (8.4 nmol/g/min, reference range: 132.2 ~ 301.4 nmol/g/min), whilst serum ferritin was increased (2 417.70 ng/mL, reference range: 30 ~ 400 ng/mL). Fundoscopy has revealed retinal pigment degeneration. Whole exome sequencing revealed that he has harbored c. 280A>C and c. 124-124+ 3delG compound heterozygous variants of the PPT1 gene, which were respectively inherited from his father and mother. Neither variant has been reported previously. The child has also harbored a heterozygous c. -160A>G variant of the FTL gene, which was inherited from his father. Based on the clinical phenotype and results of genetic testing, the child was diagnosed as CLN1 and HHCS. Conclusion:The compound heterozygous variants of the PPT1 gene probably underlay the disorders in this child. For children with CLN1 and rapidly progressing visual impairment, ophthalmological examination should be recommended, and detailed family history should be taken For those suspected for HHCS, genetic testing should be performed to confirm the diagnosis.
