Correlation analysis of eye and neurological manifestations in 56 children with infantile gangliosideosis in China_Chinese Journal of Ocular Fundus Diseases

Authors：

Peng Chunxia ¹ , Yu Jifeng ¹ , Ren Xiaotun ² , Liu Lili ¹ , Cui Yanhui ¹ ,  Shi Wei ¹ , Li Li ¹

1. Department of Ophthalmology, Beijing Children Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China;
2. Department of Neurology, Beijing Children Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China;
Shi Wei and Li Li are contributed equally to the article;

Corresponding?author：

Shi Wei, Email: weishi1666@163.com

Keywords：

Tay-Sachs disease; Metabolic diseases; Heredodegenerative disorders, nervous system

DOI：

10.3760/cma.j.cn511434-20210331-00164

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Objective To observe and analyze the clinical characteristics and correlation between the eye and nervous system in children with infantile gangliosideosis.Methods From November 2018 to January 2021, 3 children with infantile ganglion lipidosis diagnosed by genetic examination in the Department of Ophthalmology and Neurology, Beijing Children's Hospital of Capital Medical University, and through China National Knowledge Infrastructure and Wanfang database and The National Library of Medicine of the United States (PubMed) were searched, and 53 cases of Chinese infantile gangliosideosis diagnosed by gene, enzyme activity or pathological examination were selected and a total of 56 cases were included in the study. The searching time was from the establishment of the database to February 2021, and the search keywords are "gangliosideosis", "cherry-spot" macula and "Chinese". The demographic characteristics of 56 cases of children and other system manifestations were analyzed such as eyes, nervous system, skin, bones. According to the presence or absence of cherry-spot (CS) on the fundus examination, the children were divided into a fundus CS group (group A) and a fundus without CS group (group B), with 20 and 27 cases, respectively. The age of onset, gender, different types and neurological manifestations of the two groups of children were compared and analyzed. The non-parametric rank sum test was used for age comparison between groups; the χ² test or Fisher's exact test were used for the comparison of gender, disease type and incidence between groups.Results Among the 56 children, 27 were males and 29 were females; the median age of onset was 7.0 months. There were 33 and 23 cases of GM1 and GM2, respectively. Among 44 children with visual function examination records, 41 cases (93.2%, 41/44) were unable to follow the visual object. Of 47 children who underwent ocular fundus examination, 20 cases (42.6%, 20/47) had CS on the fundus. The main manifestations of the nervous system are neuromotor development regression or retardation (100%, 56/56), convulsions (58.1%, 25/43), and "startle" phenomena (89.7%, 26/29). Among 42 patients with brain magnetic resonance imaging examination records, 39 cases (92.9%) were abnormal. The incidence of "startle" and seizures in group A was higher than that in group B, and the difference was statistically significant (χ²=5.815, 6.182, P=0.021, 0.013).Conclusios Chinese infantile gangliosideosis is more common in GM1 type. Ocular visual impairment is the visual object as the main manifestation, the incidence of fundus CS is 42.6%, and the symptoms of neurological damage in children with CS are more severe.

Citation： Peng Chunxia, Yu Jifeng, Ren Xiaotun, Liu Lili, Cui Yanhui, Shi Wei, Li Li. Correlation analysis of eye and neurological manifestations in 56 children with infantile gangliosideosis in China. Chinese Journal of Ocular Fundus Diseases, 2021, 37(5): 352-358. doi: 10.3760/cma.j.cn511434-20210331-00164 Copy

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2.	Maegawa GHB, Stockley T, Tropak M, et al. The natural history of juvenile or subacute GM2 Gangliosid -osis: 21 new cases and literature review of 134 previously reported[J]. Pediatrics, 2006, 118(5): 1550-1562. DOI: 10.1542/peds.2006-0588.
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1. Lee JS, Choi JM, Lee M, et al. Diagnostic challenge for the rare lysosomal storage disease: late infantile GM1 gangliosidosis[J]. Brain Dev, 2018, 40(5): 383-390. DOI: 10.1016/j.braindev.2018.01.009.
2. Maegawa GHB, Stockley T, Tropak M, et al. The natural history of juvenile or subacute GM2 Gangliosid -osis: 21 new cases and literature review of 134 previously reported[J]. Pediatrics, 2006, 118(5): 1550-1562. DOI: 10.1542/peds.2006-0588.
3. Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects[J]. Mol Genet Metab, 2008, 94(4): 391-396. DOI: 10.1016/j.ymgme.2008.04.012.
4. Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders[J]. JAMA, 1999, 281(3): 249-254. DOI: 10.1001/jama.281.3.249.
5. Kaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model[J]. Eur J Pediatr, 2000, 159(Suppl 3): S192-195. DOI: 10.1007/pl00014401.
6. Kaback MM, Zeiger RS, Reynolds LW, et al. Approaches to the control and prevention of Tay-Sachs disease[J]. Prog Med Genet, 1974, 10: 103-134.
7. Triggs-Raine BL, Feigenbaum AS, Natowicz M, et al. Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests[J]. N Engl J Med, 1990, 323(1): 6-12. DOI: 10.1056/NEJM199007053230102.
8. Bidchol AM, Dalal A, Trivedi R, et al. Recurrent and novel GLB1 mutations in India[J]. Gene, 2015, 567(2): 173-181. DOI: 10.1016/j.gene.2015.04.078.
9. 鄒婷, 肖波, 彭隆祥, 等. 腦活檢診斷GM2神經節苷脂沉積癥[J]. 醫學臨床研究, 2007, 24(11): 1878-1880. DOI: 10.3969/j.issn.1671-7171.2007.11.020.Zou T, Xiao B, Peng LX, et al. Eight cases with GM2 gangliosidosis diagnosed by biopsy of brain[J]. J Clin Res, 2007, 24(11): 1878-1880. DOI: 10.3969/j.issn.1671-7171.2007.11.020.
10. Leal AF, Benincore-Flórez E, Solano-Galarza D, et al. GM2 gangliosidoses: clinical features, pathophysiological aspects, and current therapies[J/OL]. Int J Mol Sci, 2020, 21(7): 6213[2020-08-27]. https://pubmed.ncbi.nlm.nih.gov/32867370/. DOI: 10.3390/ijms21176213.
11. 曲滋玲, 李麗霞, 王曉明, 等. Ⅰ型GM2神經節苷脂沉積癥2例[J]. 中國實用兒科雜志, 2000, 15(6): 354. DOI: 10.3969/j.issn.1005-2224.2000.06.039.Qu ZL, Li LX, Wang XM, et al. Type Ⅰ GM2 gangliosidosis 2 cases[J]. Chinese Journal of Practical Pediatrics, 2000, 15(6): 354. DOI: 10.3969/j.issn.1005-2224.2000.06.039.
12. Yang CF, Wu JY, Tsai FJ. Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity[J/OL]. J Biomed Sci, 2010, 30, 17(1): 79[2010-09-30]. https://pubmed.ncbi.nlm.nih.gov/20920281/. DOI: 10.1186/1423-0127-17-79.
13. 崔守榮. GM1神經節苷脂沉積癥1例報告[J]. 臨床兒科雜志, 1992, 10(5): 339.Cui SR. GM1 gangliosidosis1case report[J]. J Clin Pediatr, 1992, 10(5): 339.
14. 許念桂, 彭隆祥, 盧偉, 等. GM2神經節苷脂沉積癥[J]. 臨床神經病學雜志, 2001, 14(6): 342-344. DOI: 10.3969/j.issn.1004-1648.2001.06.007.Xu NG, Peng LX, Lu W, et al. GM2 gangliosidosis[J]. J Clin Neurol, 2001, 14(6): 342-344. DOI: 10.3969/j.issn.1004-1648.2001.06.007.
15. 馬秀偉, 蒲利華, 張月華, 等. GM2神經節苷脂沉積的臨床特征及診斷[J]. 實用兒科臨床雜志, 2008, 23(7): 539-541. DOI: 10.3969/j.issn.1003-515X.2008.07.022.Ma XW, Pu LH, Zhang YH, et al. Clinical characteristics and diagnosis of GM2 gangliosidosis[J]. J Appl Clin Pediatr, 2008, 23(7): 539-541. DOI: 10.3969/j.issn.1003-515X.2008.07.022.
16. 冀浩然, 肖江喜, 李東曉, 等. GM1神經節苷脂累積病6例患兒臨床及遺傳學研究[J]. 中華實用兒科臨床雜志, 2016, 31(20): 1536-1540. DOI: 10.3760/cma.j.issn.2095-428X.2016.20.004.Ji HR, Xiao JX, Li DX, et al. Clinical and molecular genetic analysis of six patients with GM1 gangliosidosis[J]. Chin J Appl Clin Pediat, 2016, 31(20): 1536-1540. DOI: 10.3760/cma.j.issn.2095-428X.2016.20.004.
17. 楊志剛, 王媛, 陳國洪. Tay-Sachs病1例臨床及HEXA基因突變分析[J]. 臨床兒科雜志, 2019, 37(9): 697-699. DOI: 10.3969/j.issn.1000-3606.2019.09.015.Yang ZG, Wang Y, Chen GH. The clinical feature and HEXA gene mutation analysis of Tay-Sachs disease in a child[J]. J Clin Pediatr, 2019, 37(9): 697-699. DOI: 10.3969/j.issn.1000-3606.2019.09.015.
18. 楊曉蘇, 呂冰清, 肖波. 四例GM2神經節苷脂沉積癥的臨床及病理研究[J]. 中華醫學遺傳學雜志, 1994, 11(4): 204-206. DOI: 10.3760/cma.j.issn.1003-9406.1994.04.106.Yang XS, Lyu BQ, Xiao B. A clinicopathology study of GM2-gangliosidosis in four cases[J]. Chin J Med Genet, 1994, 11(4): 204-206. DOI: 10.3760/cma.j.issn.1003-9406.1994.04.106.
19. 肖波, 肖嵐, 謝光潔, 等. GM_1和GM_2神經節苷脂沉積癥[J]. 中華神經科雜志, 1997, 30(1): 23-26. DOI: 10.3760/j.issn:1006-7876.1997.01.010.Xiao B, Xiao L, Xie GJ, et al. GM1 and GM2 gangliosidosis[J]. Chin J Neurol, 1997, 30(1): 23-26. DOI: 10.3760/j.issn:1006-7876.1997.01.010.
20. 蘭雪榮, 邱建武, 李華, 等. GM1神經節苷脂沉積病致病基因GLB1新變異c. 101T>C(p. Ile34Thr)的識別和致病性分析[J]. 中國當代兒科雜志, 2019, 21(1): 71-76. DOI: 10.7499/j.issn.1008-8830.2019.01.013.Lan XR, Qiu JB, Li H, et al. Identification and pathogenicity prediction of a novel GLB1 variant c. 101T>C (p. Ile34Thr) in an infant with GM1 gangliosidosis[J]. Chin J Contemp Pediatr, 2019, 21(1): 71-76. DOI: 10.7499/j.issn.1008-8830.2019.01.013.
21. 錢寧, 宋金青, 張維民, 等. 嬰兒型GM1神經節苷脂沉積病1例報告[J]. 中國醫刊, 2006, 41(4): 39-41. DOI: 10.3969/j.issn.1008-1070.2006.04.015.Qian N, Song JQ, Zhang WM, et al. Infantile GM1 gangliosidosis in a Chinese family[J]. Chinese Journal of Medical, 2006, 41(4): 39-41. DOI: 10.3969/j.issn.1008-1070.2006.04.015.
22. 元芳芳, 柳曉艷, 康天, 等. 康復過程中發現的GM1[J]. 臨床合理用藥, 2019, 12(2): 158-159. DOI: 10.15887/j.cnki.13-1389/r.2019.05.105.Yuan FF, Liu XY, Kang T, et al. GM1-gangliosidosis case discovered in rehabilitation treatment[J]. Chin J of Clinical Rational Drug Use, 2019, 12(2): 158-159. DOI: 10.15887/j.cnki.13-1389/r.2019.05.105.
23. 吳桐菲, 李溪遠, 王嶠, 等. 一例嬰兒型Sandhoff病家系的基因診斷與產前診斷[J]. 浙江大學學報(醫學版), 2013, 42(4): 403-410. DOI: 10.3785/j.issn.1008-9292.2013.04.006.Wu TF, Li XY, Wang Q, et al. HexB gene study and prenatal diagnosis for a family affected by infantile Sandhoff disease[J]. Journal of Zhejiang University(Medical Sciences), 2013, 42(4): 403-410. DOI: 10.3785/j.issn.1008-9292.2013.04.006.
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Chinese Journal of Ocular Fundus Diseases

Correlation analysis of eye and neurological manifestations in 56 children with infantile gangliosideosis in China

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