Meta-analysis of the correlation between ocular and neurological manifestations in 43 Chinese children with sialidosis type I_Chinese Journal of Ocular Fundus Diseases

Authors：

Zuo Huaxin ¹ , Zhou Xiaofang ¹ , Ren Xiaotun ² , Shi Wei ¹ , Li Li ¹ , Yu Jifeng ¹ ,  Peng Chunxia ¹

1. Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children' Health, Beijing 100045, China;
2. Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children' Health, Beijing 100045, China;

Corresponding author：

Peng Chunxia, Email: pengchunxia99@126.com

Keywords：

Sialidosis; Cherry red-spot; Chinese children; Ataxia; Diagnostic value; Meta-analysis

DOI：

10.3760/cma.j.cn511434-20231007-00404

Video：

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Objective To investigate the correlation between macular cherry red spot (CS) and severity of neurological manifestations in Chinese children with sialidosis (SD) type I. Methods A evidence-based medical study. "China", "Sialidosis" and "Sialidoses" were used as Chinese and English search terms. The literature was searched in CNKI, Wanfang and PubMed. The cases were all from China and matched the diagnostic criteria. According to the presence or absence of CS in the fundus, the SD children were divided into a group with CS (+) and a group without CS (−), and the correlation between the occurrence of ocular CS and neurological manifestations was compared with meta-analysis by RevMan 5.3 software. Results Sixty-eight studies were initially retrieved according to the search strategy, and 17 studies were finally included, and 5 studies with CS+ and CS− were meta-analyzed. Among the 43 patients, 28 were male and 15 were female, with a median age of 12 years. Visual impairment was observed in 37 cases (90.2%, 37/41, 2 cases not recorded), and CS was present in 24 cases (55.8%, 24/43). The most common neurological manifestation was myoclonus (97.7%, 42/43), followed by cerebellar ataxia (95.1%, 39/41, 2 cases not recorded) and seizures (91.4%, 32/35, 8 cases not recorded). Pathogenic NEU1 gene mutations were detected in 42 cases and one case was undocumented. The incidence of seizure in group CS+ (100%, 20/20) was higher than that in group CS− (80%, 12/15). Meta-analysis showed that there was no statistically significant difference between the incidence of myoclonus or ataxia [relative risk (RR)=1.13, 95% confidence interval (CI) 0.79-1.63, P=0.49] and seizure (RR=1.13, 95% CI 0.84-2.06, P=0.24) among the children in the CS+ and CS− groups. Conclusions The incidence of ocular CS in Chinese children with type I SD was 55.8%. There was no correlation with neurological manifestations, however the incidence of seizure was significantly higher in patients with CS than in others without CS.

Citation： Zuo Huaxin, Zhou Xiaofang, Ren Xiaotun, Shi Wei, Li Li, Yu Jifeng, Peng Chunxia. Meta-analysis of the correlation between ocular and neurological manifestations in 43 Chinese children with sialidosis type I. Chinese Journal of Ocular Fundus Diseases, 2024, 40(1): 52-57. doi: 10.3760/cma.j.cn511434-20231007-00404 Copy

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2.	Bonten EJ, Annunziata I, d'Azzo A, et al. Lysosomal multienzyme complex: pros and cons of working together[J]. Cell Mol Life Sci, 2014, 71(11): 2017-2032. DOI: 10.1007/s00018-013-1538-3.
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4.	Seol B, Kim YD, Cho YS. Modeling sialidosis with neural precursor cells derived from patient-derived induced pluripotent stem cells[J/OL]. Int J Mol Sci, 2021, 22(9): 4386[2021-04-22]. https://pubmed.ncbi.nlm.nih.gov/33922276/. DOI: 10.3390/ijms22094386.
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6.	何倩, 王雪梅, 罗结仪, 等. 唾液酸沉积症的研究现状[J]. 中华神经医学杂志, 2022, 21(8): 858-861. DOI: 10.3760/cma.j.cn115354-20220424-00262.He Q, Wang XM, Luo JY, et al. Recent advance in sialidosis[J]. Chin J Neuromed, 2022, 21(8): 858-861. DOI: 10.3760/cma.j.cn115354-20220424-00262.
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11.	Fan SP, Lee NC, Lin CH. Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene[J]. J Formos Med Assoc, 2020, 119(1 Pt 3): 406-412. DOI: 10.1016j.jfma.2019.07.017.
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14.	Lai SC, Chen RS, Wu Chou YH, et al. A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome[J]. Eur J Neurol, 2009, 16(8): 912-919. DOI: 10.1111/j.1468-1331.2009.02622.x.
15.	Lu CS, Ng SH, Lai SC, et al. Cortical damage in the posterior visual pathway in patients with sialidosis type 1[J]. Brain Imaging Behav, 2017, 11(1): 214-223. DOI: 10.1007/s11682-016-9517-6.
16.	Lv RJ, Li TR, Zhang YD, et al. Clinical and genetic characteristics of type I sialidosis patients in mainland China[J]. Ann Clin Transl Neurol, 2020, 7(6): 911-923. DOI: 10.1002/acn3.51058.
17.	Wang IH, Lin TY, Kao ST. Optical coherence tomography features in a case of type Ⅰ sialidosis[J]. Taiwan J Ophthalmol, 2017, 7(2): 108-111. DOI: 10.4103/tjo.tjo_53_17.
18.	Zou W, Wang X, Tian G. Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis[J]. BMC Ophthalmol, 2016, 16: 30. DOI: 10.1186/s12886-016-0201-9.
19.	刘茅茅, 邵晓秋, 李志梅, 等. Ⅰ型唾液酸沉积症一例[J]. 脑与神经疾病杂志, 2019, 27(3): 148-152.Liu MM, Shao XQ, Li ZM, et al. Sialidosis: a case report[J]. Journal of Brain and Nervous Diseases, 2019, 27(3): 148-152.
20.	季涛云, 张尧, 张月华, 等. 涎酸贮积症一家系报告[J]. 临床儿科杂志, 2017, 35(7): 529-531. DOI: 10.3969/j.issn.1000-3606.2017.07.014.Ji TY, Zhang Y, Zhang YH, et al. Sialidosis: a case report[J]. J Clin Pediatr, 2017, 35(7): 529-531. DOI: 10.3969/j.issn.1000-3606.2017.07.014.
21.	左华欣, 周晓芳, 任晓暾, 等. 儿童Ⅰ型唾液酸沉积症并发黄斑部“樱桃红斑”一例[J]. 中华眼底病杂志, 2024, 40(1): 64-66. DOI: 10.3760/cma.j.cn511434-20231113-00455.Zuo HX, Zhou XF, Ren XT, et al. A case of type I sialidosis with macular cherry red spot observed in a child[J]. Chin J Ocul Fundus Dis, 2024, 40(1): 64-66. DOI: 10.3760/cma.j.cn511434-20231113-00455.
22.	张包静子, 全超, 罗苏珊, 等. 唾液酸沉积症Ⅰ型一例报道[C]//中华医学会, 中华医学会神经病学分会. 中华医学会第十七次全国神经病学学术会议论文汇编(下), 2014: 656.Zhang BJZ, Quan C, Luo SS, et al. A case report of type I sialidosis[C]//Chinese Medical Association, 17th National Conference of Neurology, 2014: 656.
23.	张静, 张月华, 陈娇阳, 等. 进行性肌阵挛癫痫患儿26例致病基因及临床表型特点[J]. 中华儿科杂志, 2019, 57(6): 458-464. DOI: 10.3760/cma.j.issn.0578-1310.2019.06.011.Zhang J, Zhang YH, Chen JY, et al. Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy[J]. Chin J Pediatr, 2019, 57(6): 458-464. DOI: 10.3760/cma.j.issn.0578-1310.2019.06.011.
24.	李东初, 王建文, 王珍珍, 等. 双胞胎共患Ⅰ型SD[J]. 中华神经科杂志, 2023, 56(5): 543-549. DOI: 10.3760/cma.j.cn113694-20221129-00886.Li DC, Wang JW, Wang ZZ, et al. The cases of twins with sialidosis type 1[J]. Chin J Neurol, 2023, 56(5): 543-549. DOI: 10.3760/cma.j.cn113694-20221129-00886.
25.	李云璐. 福建地区唾液酸沉积证Ⅰ型患者的临床及遗传学特征研究[D]. 福州: 福建医科大学, 2021.Li YL. Clinical and genetic characteristics of patients with type I sialidosis in Fujian province[D]. Fuzhou: Fujian Medical University, 2021.
26.	Mosca R, van de Vlekkert D, Campos Y, et al. Conventional and unconventional therapeutic strategies for sialidosis type I[J]. J Clin Med, 2020, 9(3): 695. DOI: 10.3390/jcm9030695.
27.	吕瑞娟, 李陶然, 金丽日, 等. 来自不同地域的Ⅰ型SD患者的临床和遗传特征研究[C]//中国抗癫痫协会脑电图与神经电生理分会. 第七届CAAE脑电图与神经电生理大会会刊, 南京, 2020: 131-132.Lyu RJ, Li TR, Jin LR, et al. Clinical and genetic characteristics of patients with type I SD from different regions[C]//The 7th CAAE national EEG& Neurophysiology Conference, Nanjing, 2020: 131-132.
28.	O’ Brien JS. The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency[J]. Clin Genet, 1978, 14(1): 55-60. DOI: 10.1111/j.1399-0004.1978.tb02061.x.
29.	Michalewska Z, Gajos A, Michalewski J, et al. Spectral optical coherence tomography in a patient with type I sialidosis[J]. Med Sci Monit, 2011, 17(10): 129-131. DOI: 10.12659/msm.881971.
30.	Tripathy K, Patel BC. Cherry red spot[M]. Treasure Island (FL): StatPearls Publishing, 2023.
31.	彭春霞, 余继锋, 任晓暾, 等. 56例中国婴幼儿型神经节苷脂沉积症患儿眼部与神经系统表现相关性分析[J]. 中华眼底病杂志, 2021, 37(5): 352-357. DOI: 10.3760/cma.j.cn511434-20210331-00164.Peng CX, Yu JF, Ren XT, et al. Correlation analysis of eye and neurological manifestations in 56 children with infantile gangliosideosis in China[J]. Chin J Ocul Fundus Dis, 2021, 37(5): 352-357. DOI: 10.3760/cma.j.cn511434-20210331-00164.

1. Ahn JH, Kim AR, Lee C, et al. Type 1 sialidosis patient with a novel deletion mutation in the NEU1 gene: case report and literature review[J]. Cerebellum, 2019, 18(3): 659-664. DOI: 10.1007/s12311-019-1005-2.
2. Bonten EJ, Annunziata I, d'Azzo A, et al. Lysosomal multienzyme complex: pros and cons of working together[J]. Cell Mol Life Sci, 2014, 71(11): 2017-2032. DOI: 10.1007/s00018-013-1538-3.
3. Vial F, McGurrin P, Attaripour S, et al. Myoclonus generators in sialidosis[J]. Clin Neurophysiol Pract, 2022, 7: 169-173. DOI: 10.1016/j.cnp.2022.05.004.
4. Seol B, Kim YD, Cho YS. Modeling sialidosis with neural precursor cells derived from patient-derived induced pluripotent stem cells[J/OL]. Int J Mol Sci, 2021, 22(9): 4386[2021-04-22]. https://pubmed.ncbi.nlm.nih.gov/33922276/. DOI: 10.3390/ijms22094386.
5. Caciotti A, Melani F, Tonin R, et al. Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: an overview[J]. Mol Genet Metab, 2020, 129(2): 47-58. DOI: 10.1016/j.ymgme.2019.09.005.
6. 何倩, 王雪梅, 罗结仪, 等. 唾液酸沉积症的研究现状[J]. 中华神经医学杂志, 2022, 21(8): 858-861. DOI: 10.3760/cma.j.cn115354-20220424-00262.He Q, Wang XM, Luo JY, et al. Recent advance in sialidosis[J]. Chin J Neuromed, 2022, 21(8): 858-861. DOI: 10.3760/cma.j.cn115354-20220424-00262.
7. The Joanna Briggs Institute. Joanna Briggs institute reviewers' manual: 2016 edition[M]. Australia: The Joanna Briggs Institute, 2016.
8. 周英凤, 顾莺, 胡雁, 等. JBI循证卫生保健中心关于不同类型研究的质量评价工具——病例报告及病例系列的质量评价[J]. 护士进修杂志, 2018, 33(4): 310-312. DOI: 10.16821/j.cnki.hsjx.2018.04.006.Zhou YF, Gu Y, Hu Y, et al. JBI evidence-based health care center about different types of research quality evaluation tool: case report and case series quality evaluation[J]. Journal of Nurses Training, 2018, 33(4): 310-312. DOI: 10.16821/j.cnki.hsjx.2018.04.006.
9. Cao LX, Liu Y, Song ZJ, et al. Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: a case report and review of literature[J]. World J Clin Cases, 2021, 9(3): 623-631. DOI: 10.12998/wjcc.v9.i3.623.
10. Chen CM, Lai SC, Chen IC, et al. First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study[J]. J Neurol Sci, 2006, 247(1): 65-69. DOI: 10.1016/j.jns.2006.03.013.
11. Fan SP, Lee NC, Lin CH. Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene[J]. J Formos Med Assoc, 2020, 119(1 Pt 3): 406-412. DOI: 10.1016j.jfma.2019.07.017.
12. Han X, Wu S, Wang M, et al. Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1[J/OL]. Mol Genet Genomic Med, 2020, 8(8): e1316[2020-05-26]. https://pubmed.ncbi.nlm.nih.gov/32453490/. DOI: 10.1002/mgg3.1316.
13. Hu SC, Hung KL, Chen HJ, et al. Seizure remission and improvement of neurological function in sialidosis with perampanel therapy[J]. Epilepsy Behav Case Rep, 2018, 10: 32-34. DOI: 10.1016/j.ebcr.2018.02.005.
14. Lai SC, Chen RS, Wu Chou YH, et al. A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome[J]. Eur J Neurol, 2009, 16(8): 912-919. DOI: 10.1111/j.1468-1331.2009.02622.x.
15. Lu CS, Ng SH, Lai SC, et al. Cortical damage in the posterior visual pathway in patients with sialidosis type 1[J]. Brain Imaging Behav, 2017, 11(1): 214-223. DOI: 10.1007/s11682-016-9517-6.
16. Lv RJ, Li TR, Zhang YD, et al. Clinical and genetic characteristics of type I sialidosis patients in mainland China[J]. Ann Clin Transl Neurol, 2020, 7(6): 911-923. DOI: 10.1002/acn3.51058.
17. Wang IH, Lin TY, Kao ST. Optical coherence tomography features in a case of type Ⅰ sialidosis[J]. Taiwan J Ophthalmol, 2017, 7(2): 108-111. DOI: 10.4103/tjo.tjo_53_17.
18. Zou W, Wang X, Tian G. Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis[J]. BMC Ophthalmol, 2016, 16: 30. DOI: 10.1186/s12886-016-0201-9.
19. 刘茅茅, 邵晓秋, 李志梅, 等. Ⅰ型唾液酸沉积症一例[J]. 脑与神经疾病杂志, 2019, 27(3): 148-152.Liu MM, Shao XQ, Li ZM, et al. Sialidosis: a case report[J]. Journal of Brain and Nervous Diseases, 2019, 27(3): 148-152.
20. 季涛云, 张尧, 张月华, 等. 涎酸贮积症一家系报告[J]. 临床儿科杂志, 2017, 35(7): 529-531. DOI: 10.3969/j.issn.1000-3606.2017.07.014.Ji TY, Zhang Y, Zhang YH, et al. Sialidosis: a case report[J]. J Clin Pediatr, 2017, 35(7): 529-531. DOI: 10.3969/j.issn.1000-3606.2017.07.014.
21. 左华欣, 周晓芳, 任晓暾, 等. 儿童Ⅰ型唾液酸沉积症并发黄斑部“樱桃红斑”一例[J]. 中华眼底病杂志, 2024, 40(1): 64-66. DOI: 10.3760/cma.j.cn511434-20231113-00455.Zuo HX, Zhou XF, Ren XT, et al. A case of type I sialidosis with macular cherry red spot observed in a child[J]. Chin J Ocul Fundus Dis, 2024, 40(1): 64-66. DOI: 10.3760/cma.j.cn511434-20231113-00455.
22. 张包静子, 全超, 罗苏珊, 等. 唾液酸沉积症Ⅰ型一例报道[C]//中华医学会, 中华医学会神经病学分会. 中华医学会第十七次全国神经病学学术会议论文汇编(下), 2014: 656.Zhang BJZ, Quan C, Luo SS, et al. A case report of type I sialidosis[C]//Chinese Medical Association, 17th National Conference of Neurology, 2014: 656.
23. 张静, 张月华, 陈娇阳, 等. 进行性肌阵挛癫痫患儿26例致病基因及临床表型特点[J]. 中华儿科杂志, 2019, 57(6): 458-464. DOI: 10.3760/cma.j.issn.0578-1310.2019.06.011.Zhang J, Zhang YH, Chen JY, et al. Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy[J]. Chin J Pediatr, 2019, 57(6): 458-464. DOI: 10.3760/cma.j.issn.0578-1310.2019.06.011.
24. 李东初, 王建文, 王珍珍, 等. 双胞胎共患Ⅰ型SD[J]. 中华神经科杂志, 2023, 56(5): 543-549. DOI: 10.3760/cma.j.cn113694-20221129-00886.Li DC, Wang JW, Wang ZZ, et al. The cases of twins with sialidosis type 1[J]. Chin J Neurol, 2023, 56(5): 543-549. DOI: 10.3760/cma.j.cn113694-20221129-00886.
25. 李云璐. 福建地区唾液酸沉积证Ⅰ型患者的临床及遗传学特征研究[D]. 福州: 福建医科大学, 2021.Li YL. Clinical and genetic characteristics of patients with type I sialidosis in Fujian province[D]. Fuzhou: Fujian Medical University, 2021.
26. Mosca R, van de Vlekkert D, Campos Y, et al. Conventional and unconventional therapeutic strategies for sialidosis type I[J]. J Clin Med, 2020, 9(3): 695. DOI: 10.3390/jcm9030695.
27. 吕瑞娟, 李陶然, 金丽日, 等. 来自不同地域的Ⅰ型SD患者的临床和遗传特征研究[C]//中国抗癫痫协会脑电图与神经电生理分会. 第七届CAAE脑电图与神经电生理大会会刊, 南京, 2020: 131-132.Lyu RJ, Li TR, Jin LR, et al. Clinical and genetic characteristics of patients with type I SD from different regions[C]//The 7th CAAE national EEG& Neurophysiology Conference, Nanjing, 2020: 131-132.
28. O’ Brien JS. The cherry red spot-myoclonus syndrome: a newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiency[J]. Clin Genet, 1978, 14(1): 55-60. DOI: 10.1111/j.1399-0004.1978.tb02061.x.
29. Michalewska Z, Gajos A, Michalewski J, et al. Spectral optical coherence tomography in a patient with type I sialidosis[J]. Med Sci Monit, 2011, 17(10): 129-131. DOI: 10.12659/msm.881971.
30. Tripathy K, Patel BC. Cherry red spot[M]. Treasure Island (FL): StatPearls Publishing, 2023.
31. 彭春霞, 余继锋, 任晓暾, 等. 56例中国婴幼儿型神经节苷脂沉积症患儿眼部与神经系统表现相关性分析[J]. 中华眼底病杂志, 2021, 37(5): 352-357. DOI: 10.3760/cma.j.cn511434-20210331-00164.Peng CX, Yu JF, Ren XT, et al. Correlation analysis of eye and neurological manifestations in 56 children with infantile gangliosideosis in China[J]. Chin J Ocul Fundus Dis, 2021, 37(5): 352-357. DOI: 10.3760/cma.j.cn511434-20210331-00164.

Chinese Journal of Ocular Fundus Diseases

Meta-analysis of the correlation between ocular and neurological manifestations in 43 Chinese children with sialidosis type I

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