母子共患DiGeorge综合征伴癫痫的病例报道并文献回顾_Journal of Epilepsy

Authors：

王正飞 ¹ , 王艳丽 ² , 卞婷婷 ³ , 包淑平 ¹ ,  孔庆霞 ²

1. ;
2. ;
3. ;

Corresponding author：

孔庆霞, Email: kxdqy8@sohu.com

Keywords：

DiGeorge综合征; 22q11.2微缺失综合征; 癫痫

DOI：

10.7507/2096-0247.202507001

Video：

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Citation： 王正飞, 王艳丽, 卞婷婷, 包淑平, 孔庆霞. 母子共患DiGeorge综合征伴癫痫的病例报道并文献回顾. Journal of Epilepsy, 2025, 11(5): 450-456. doi: 10.7507/2096-0247.202507001 Copy

1.	Szczawińska-Popłonyk A, Schwartzmann E, Chmara Z, et al. Chromosome 22q11. 2 deletion syndrome: a comprehensive review of molecular genetics in the context of multidisciplinary clinical approach. Int J Mol Sci, 2023, 24(9): 8317.
2.	Goldmuntz E. 22q11. 2 deletion syndrome and congenital heart disease. Am J Med Genet C Semin Med Genet, 2020, 184(1): 64-72.
3.	Bayat M, Bayat A. Neurological manifestation of 22q11. 2 deletion syndrome. Neurol Sci, 2022, 43(3): 1695-1700.
4.	Page M, Ridge L, Gold Diaz D, et al. Loss of CXCL12/CXCR4 signalling impacts several aspects of cardiovascular development but does not exacerbate Tbx1 haploinsufficiency. PLoS One, 2018, 13(11): e0207251.
5.	吴谢东, 王国建, 黄莎莎, 等. 22q11. 2微缺失综合征相关致病机制探讨. 中华耳科学杂志, 2023, 21(3): 326-330.
6.	孔晶, 温颖璐, 黄文娟, 等. 非典型染色体22q11. 2缺失导致成人起病甲状旁腺功能减退症家系及文献分析. 中华骨质疏松和骨矿盐疾病杂志, 2023, 16(2): 107-114.
7.	Quach TT, Stratton HJ, Khanna R, et al. Intellectual disability: dendritic anomalies and emerging genetic perspectives. Acta Neuropathol, 2021, 141(2): 139-158.
8.	Levy-Shraga Y, Gothelf D, Goichberg Z, et al. Growth characteristics and endocrine abnormalities in 22q11. 2 deletion syndrome. Am J Med Genet A, 2017, 173(5): 1301-1308.
9.	Bhattarai D, McGinn DE, Crowley TB, et al. Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11. 2 Duplications. J Clin Immunol, 2023, 43(4): 794-807.
10.	Alkan G, Emiroglu MK, Kartal A. DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy. J Pediatr Neurosci, 2017, 12(4): 344-345.
11.	Mudigoudar B, Nune S, Fulton S, et al. Epilepsy in 22q11. 2 Deletion Syndrome: A Case Series and Literature Review. Pediatr Neurol, 2017, 76: 86-90.
12.	Cheung EN, George SR, Andrade DM, et al. Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11. 2 deletion syndrome. Genet Med, 2014, 16(1): 40-44.
13.	Eaton CB, Thomas RH, Hamandi K, et al. Epilepsy and seizures in young people with 22q11. 2 deletion syndrome: prevalence and links with other neurodevelopmental disorders. Epilepsia, 2019, 60(5): 818-829.
14.	Eryılmaz SK, Baş F, Satan A, et al. A patient with 22q11. 2 deletion syndrome: case report. J Clin Res Pediatr Endocrinol, 2009, 1(3): 151-154.
15.	AlKalaf HY, AlHashem AM, AlSaleh NS, et al. Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11. 2 deletion syndrome. Neurosciences (Riyadh), 2020, 25(4): 287-291.
16.	Strehlow V, Swinkels ME, Thomas RH, et al. Generalized Epilepsy and Myoclonic Seizures in 22q11. 2 Deletion Syndrome. Mol Syndromol, 2016, 7(4): 239-246.
17.	Debbané M, Schaer M, Farhoumand R, et al. Hippocampal volume reduction in 22q11. 2 deletion syndrome. Neuropsychologia, 2006, 44(12): 2360-2365.
18.	Flahault A, Schaer M, Ottet MC, et al. Hippocampal volume reduction in chromosome 22q11.2 deletion syndrome (22q11.2DS): a longitudinal study of morphometry and symptomatology. Psychiatry Res, 2012, 203(1): 1-5.
19.	Vaz A, Teixeira BCA, Bertholdo DB. Incomplete hippocampal inversion: diagnostic criteria and effect on epilepsy, seizure localization and therapeutic outcome in children. Seizure, 2022, 100: 67-75.
20.	Bajic D, Kumlien E, Mattsson P, et al. Incomplete hippocampal inversion-is there a relation to epilepsy? Eur Radiol, 2009, 19(10): 2544-2550.
21.	Gavril EC, Popescu R, Nucă I, et al. Different types of deletions created by low-copy repeats sequences location in 22q11. 2 deletion syndrome: genotype-phenotype correlation. Genes (Basel), 2022, 13(11): 2083.
22.	Watanabe Y, Miyagawa-Tomita S, Vincent SD, et al. Role of mesodermal FGF8 and FGF10 overlaps in the development of the arterial pole of the heart and pharyngeal arch arteries. Circ Res, 2010, 106(3): 495-503.
23.	Chen L, Fulcoli FG, Tang S, et al. Tbx1 regulates proliferation and differentiation of multipotent heart progenitors. Circ Res, 2009, 105(9): 842-851.
24.	Phillips HM, Stothard CA, Shaikh Qureshi WM, et al. Pax9 is required for cardiovascular development and interacts with Tbx1 in the pharyngeal endoderm to control 4th pharyngeal arch artery morphogenesis. Development, 2019, 146(18): dev177618.
25.	Hong N, Zhang E, Wang Q, et al. A loss-of-function mutation p. T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication. J Transl Med, 2018, 16(1): 260.
26.	Grudzień K, Kuzaj J, Dębicka M, et al. Retropharyngeal ectopic thymus in a pediatric patient with 22q11. 2 deletion syndrome. Cureus, 2023, 15(1): e33350.
27.	Yu HH, Chien YH, Lu MY, et al. Clinical and immunological defects and outcomes in patients with chromosome 22q11. 2 deletion syndrome. J Clin Immunol, 2022, 42(8): 1721-1729.
28.	McLean-Tooke A, Spickett GP, Gennery AR. Immunodeficiency and autoimmunity in 22q11. 2 deletion syndrome. Scand J Immunol, 2007, 66(1): 1-7.
29.	Li D, Gordon CT, Oufadem M, et al. Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism. J Clin Endocrinol Metab, 2018, 103(11): 4023-4032.
30.	Soshnick SH, Joseph T, Bennett NJ. Humoral immunodeficiency and immune globulin replacement therapy (igrt) usage in digeorge syndrome. J Clin Immunol, 2021, 41(6): 1208-1212.

1. Szczawińska-Popłonyk A, Schwartzmann E, Chmara Z, et al. Chromosome 22q11. 2 deletion syndrome: a comprehensive review of molecular genetics in the context of multidisciplinary clinical approach. Int J Mol Sci, 2023, 24(9): 8317.
2. Goldmuntz E. 22q11. 2 deletion syndrome and congenital heart disease. Am J Med Genet C Semin Med Genet, 2020, 184(1): 64-72.
3. Bayat M, Bayat A. Neurological manifestation of 22q11. 2 deletion syndrome. Neurol Sci, 2022, 43(3): 1695-1700.
4. Page M, Ridge L, Gold Diaz D, et al. Loss of CXCL12/CXCR4 signalling impacts several aspects of cardiovascular development but does not exacerbate Tbx1 haploinsufficiency. PLoS One, 2018, 13(11): e0207251.
5. 吴谢东, 王国建, 黄莎莎, 等. 22q11. 2微缺失综合征相关致病机制探讨. 中华耳科学杂志, 2023, 21(3): 326-330.
6. 孔晶, 温颖璐, 黄文娟, 等. 非典型染色体22q11. 2缺失导致成人起病甲状旁腺功能减退症家系及文献分析. 中华骨质疏松和骨矿盐疾病杂志, 2023, 16(2): 107-114.
7. Quach TT, Stratton HJ, Khanna R, et al. Intellectual disability: dendritic anomalies and emerging genetic perspectives. Acta Neuropathol, 2021, 141(2): 139-158.
8. Levy-Shraga Y, Gothelf D, Goichberg Z, et al. Growth characteristics and endocrine abnormalities in 22q11. 2 deletion syndrome. Am J Med Genet A, 2017, 173(5): 1301-1308.
9. Bhattarai D, McGinn DE, Crowley TB, et al. Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11. 2 Duplications. J Clin Immunol, 2023, 43(4): 794-807.
10. Alkan G, Emiroglu MK, Kartal A. DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy. J Pediatr Neurosci, 2017, 12(4): 344-345.
11. Mudigoudar B, Nune S, Fulton S, et al. Epilepsy in 22q11. 2 Deletion Syndrome: A Case Series and Literature Review. Pediatr Neurol, 2017, 76: 86-90.
12. Cheung EN, George SR, Andrade DM, et al. Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11. 2 deletion syndrome. Genet Med, 2014, 16(1): 40-44.
13. Eaton CB, Thomas RH, Hamandi K, et al. Epilepsy and seizures in young people with 22q11. 2 deletion syndrome: prevalence and links with other neurodevelopmental disorders. Epilepsia, 2019, 60(5): 818-829.
14. Eryılmaz SK, Baş F, Satan A, et al. A patient with 22q11. 2 deletion syndrome: case report. J Clin Res Pediatr Endocrinol, 2009, 1(3): 151-154.
15. AlKalaf HY, AlHashem AM, AlSaleh NS, et al. Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11. 2 deletion syndrome. Neurosciences (Riyadh), 2020, 25(4): 287-291.
16. Strehlow V, Swinkels ME, Thomas RH, et al. Generalized Epilepsy and Myoclonic Seizures in 22q11. 2 Deletion Syndrome. Mol Syndromol, 2016, 7(4): 239-246.
17. Debbané M, Schaer M, Farhoumand R, et al. Hippocampal volume reduction in 22q11. 2 deletion syndrome. Neuropsychologia, 2006, 44(12): 2360-2365.
18. Flahault A, Schaer M, Ottet MC, et al. Hippocampal volume reduction in chromosome 22q11.2 deletion syndrome (22q11.2DS): a longitudinal study of morphometry and symptomatology. Psychiatry Res, 2012, 203(1): 1-5.
19. Vaz A, Teixeira BCA, Bertholdo DB. Incomplete hippocampal inversion: diagnostic criteria and effect on epilepsy, seizure localization and therapeutic outcome in children. Seizure, 2022, 100: 67-75.
20. Bajic D, Kumlien E, Mattsson P, et al. Incomplete hippocampal inversion-is there a relation to epilepsy? Eur Radiol, 2009, 19(10): 2544-2550.
21. Gavril EC, Popescu R, Nucă I, et al. Different types of deletions created by low-copy repeats sequences location in 22q11. 2 deletion syndrome: genotype-phenotype correlation. Genes (Basel), 2022, 13(11): 2083.
22. Watanabe Y, Miyagawa-Tomita S, Vincent SD, et al. Role of mesodermal FGF8 and FGF10 overlaps in the development of the arterial pole of the heart and pharyngeal arch arteries. Circ Res, 2010, 106(3): 495-503.
23. Chen L, Fulcoli FG, Tang S, et al. Tbx1 regulates proliferation and differentiation of multipotent heart progenitors. Circ Res, 2009, 105(9): 842-851.
24. Phillips HM, Stothard CA, Shaikh Qureshi WM, et al. Pax9 is required for cardiovascular development and interacts with Tbx1 in the pharyngeal endoderm to control 4th pharyngeal arch artery morphogenesis. Development, 2019, 146(18): dev177618.
25. Hong N, Zhang E, Wang Q, et al. A loss-of-function mutation p. T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication. J Transl Med, 2018, 16(1): 260.
26. Grudzień K, Kuzaj J, Dębicka M, et al. Retropharyngeal ectopic thymus in a pediatric patient with 22q11. 2 deletion syndrome. Cureus, 2023, 15(1): e33350.
27. Yu HH, Chien YH, Lu MY, et al. Clinical and immunological defects and outcomes in patients with chromosome 22q11. 2 deletion syndrome. J Clin Immunol, 2022, 42(8): 1721-1729.
28. McLean-Tooke A, Spickett GP, Gennery AR. Immunodeficiency and autoimmunity in 22q11. 2 deletion syndrome. Scand J Immunol, 2007, 66(1): 1-7.
29. Li D, Gordon CT, Oufadem M, et al. Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism. J Clin Endocrinol Metab, 2018, 103(11): 4023-4032.
30. Soshnick SH, Joseph T, Bennett NJ. Humoral immunodeficiency and immune globulin replacement therapy (igrt) usage in digeorge syndrome. J Clin Immunol, 2021, 41(6): 1208-1212.

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