The clinical features of congenital hyperinsulinemia presenting seizures as the initial symptoms_Journal of Epilepsy

Authors：

ZENG Xingying , ZHA Jian , YI Zhaoshi , LI Xiaoyan , YU Xiongying , WU Huaping , XIE Jihua , ZHANG Jingjing ,  ZHONG Jianmin

Department of Pediatric Neurology, Jiangxi Children's Hospital, Nanchang 330006, China;

Corresponding author：

ZHONG Jianmin, Email: zhongjm@163.com

Keywords：

Congenital hyperinsulinemia; Infant; Seizure

DOI：

10.7507/2096-0247.20170045

Video：

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Objective To analyze the clinical data of 5 cases of congenital hyperinsulinemia with sizures as the initial symptoms. Methods Risk factors in perinatal period, clinical manifestation, laboratory examination, treatment and follow-up visits of 5 cases of congenital hyperinsulinemia with sizures as the initial symptoms were analyzed retrospectively, who were admitted to Department of Neurology of Jiangxi Children's Hospital from July 2012 to August 2016. Results 5 children were all male. The onset time varied from 3 to 9 mouths old. All the cases presented seizures as the main clinical manifestations, persistent hypoglycemia, hyperinsulinemia, low free fatty acid and hypoketonemia. During follow-up, treatment with diazoxide and dietary therapy was effective in 3 cases, pure dietary therapy ineffective in 2 cases. 3 cases manifested as acute symptomic seizures, 2 cases as remote symptomic epilepsy. During follow-up, 1 cases showed normal intelligence, 3 cases developmental delay, and 1 case dropout. Conclusion Most of the infants with congenital hyperinsulinemia presented seizures as initial symptoms. Severe hypoglycemia and long duration would damage brain, and early management may significantly improve the prognosis. The early diagnosis can be made by measuring fasting blood glucose, insulin, free fatty acid and, plasma β-hydroxybutyric acid, C peptide and so on. The majority of children were effective by diazoxide.

Citation： ZENG Xingying, ZHA Jian, YI Zhaoshi, LI Xiaoyan, YU Xiongying, WU Huaping, XIE Jihua, ZHANG Jingjing, ZHONG Jianmin. The clinical features of congenital hyperinsulinemia presenting seizures as the initial symptoms. Journal of Epilepsy, 2017, 3(4): 302-306. doi: 10.7507/2096-0247.20170045 Copy

1.	Faletra F, Athanasakis E, Morgan A, et al. Congenital hyper insulinism: clinical and molecular analysis of a large italian cohort. Gene, 2013, 521(1): 160-165.
2.	Petraitiene I, Barauskas G, Gulbinas A, et al. Congenital hyper insulinism. Medicina (Kaunas), 2014, 50(3): 190-195.
3.	黄巧燕, 伊文霞, 符娜, 等.以意识障碍或惊厥为首发症状的儿童低血糖症临床特点和误诊分析.中国医刊, 2013, 48(8): 22-24.
4.	杜敏联.婴儿持续性和复发性低血糖的诊断和治疗.实用儿科临床杂志, 2010, 25(8): 542-545.
5.	Senthil Senniappan, Shanti B, James C, et al. Hyper insulin aemic hypoglycaemia: genetic mechanisms, diagnosis and management. Journal of Inherited Metabolic Disease, 2012, 35(4): 589-601.
6.	üstün NU, Dilli D, Kundak AA, et al. A novel mutation in ABCC8 gene in a newborn with congenital hyper insulinism-a case report. Fetal and Pediatric Pathology, 2013, 32(6): 412-417.
7.	李伟, 肖新华.先天性高胰岛素血症.医学研究杂志, 2016, 45(1): 12-16.
8.	桑艳梅, 刘敏, 闫洁, 等.二氮嗪治疗先天性高胰岛素血症7例.实用儿科临床杂志, 2011, 26(08): 619-621.
9.	徐子迪, 梁学军, 闫洁, 等.伴高氨血症的先天性高胰岛素血症23例临床分析.临床儿科杂志, 2013, 14(08): 793-794.
10.	杨琳, 杨晓燕, 石晶, 等.新生儿先天性高胰岛素血症诊治进展.中华妇幼临床医学杂志(电子版), 2016, 12(1): 100-103.
11.	Kapoor RR, Flanagan SE, Arya VB, et al. Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. European Journal of Endocrinology, 2013, 168(4): 557-564.
12.	Ro enková K, Güemes M, Shah P, et al. The diagnosis and management of hyperinsulinaemic hypoglycaemia. Journal of Clinical Research in Pediatric Endocrinology, 2015, 7(2): 86-97.
13.	Rahman SA, Nessa A, Hussain K. Molecular mechanisms of congenital hyperinsulinism. Journal of Molecular Endocrinology, 2015, 52(2): 119-129.
14.	吴爱文, 刘丽, 李秀珍, 等.婴儿持续性高胰岛素血症性低血糖症12例临床分析.中国当代儿科杂志, 2009, 11(10): 809-812.
15.	吴莉, 陈玲.二氮嗪联合奥曲肽治疗先天性高胰岛素血症1例.儿科药学杂志, 2013, (10): 25-28.
16.	Blomberg BA, Moghbel MC, Saboury B, et al. The value of radiologic interventions and (18) F-DOPA PET in diagnosing and localizing focal congenital hyperinsulinism: systematic review and meta-analysis. Molecular Imaging and Biology, 2013, 15(1): 97-105.

1. Faletra F, Athanasakis E, Morgan A, et al. Congenital hyper insulinism: clinical and molecular analysis of a large italian cohort. Gene, 2013, 521(1): 160-165.
2. Petraitiene I, Barauskas G, Gulbinas A, et al. Congenital hyper insulinism. Medicina (Kaunas), 2014, 50(3): 190-195.
3. 黄巧燕, 伊文霞, 符娜, 等.以意识障碍或惊厥为首发症状的儿童低血糖症临床特点和误诊分析.中国医刊, 2013, 48(8): 22-24.
4. 杜敏联.婴儿持续性和复发性低血糖的诊断和治疗.实用儿科临床杂志, 2010, 25(8): 542-545.
5. Senthil Senniappan, Shanti B, James C, et al. Hyper insulin aemic hypoglycaemia: genetic mechanisms, diagnosis and management. Journal of Inherited Metabolic Disease, 2012, 35(4): 589-601.
6. üstün NU, Dilli D, Kundak AA, et al. A novel mutation in ABCC8 gene in a newborn with congenital hyper insulinism-a case report. Fetal and Pediatric Pathology, 2013, 32(6): 412-417.
7. 李伟, 肖新华.先天性高胰岛素血症.医学研究杂志, 2016, 45(1): 12-16.
8. 桑艳梅, 刘敏, 闫洁, 等.二氮嗪治疗先天性高胰岛素血症7例.实用儿科临床杂志, 2011, 26(08): 619-621.
9. 徐子迪, 梁学军, 闫洁, 等.伴高氨血症的先天性高胰岛素血症23例临床分析.临床儿科杂志, 2013, 14(08): 793-794.
10. 杨琳, 杨晓燕, 石晶, 等.新生儿先天性高胰岛素血症诊治进展.中华妇幼临床医学杂志(电子版), 2016, 12(1): 100-103.
11. Kapoor RR, Flanagan SE, Arya VB, et al. Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. European Journal of Endocrinology, 2013, 168(4): 557-564.
12. Ro enková K, Güemes M, Shah P, et al. The diagnosis and management of hyperinsulinaemic hypoglycaemia. Journal of Clinical Research in Pediatric Endocrinology, 2015, 7(2): 86-97.
13. Rahman SA, Nessa A, Hussain K. Molecular mechanisms of congenital hyperinsulinism. Journal of Molecular Endocrinology, 2015, 52(2): 119-129.
14. 吴爱文, 刘丽, 李秀珍, 等.婴儿持续性高胰岛素血症性低血糖症12例临床分析.中国当代儿科杂志, 2009, 11(10): 809-812.
15. 吴莉, 陈玲.二氮嗪联合奥曲肽治疗先天性高胰岛素血症1例.儿科药学杂志, 2013, (10): 25-28.
16. Blomberg BA, Moghbel MC, Saboury B, et al. The value of radiologic interventions and (18) F-DOPA PET in diagnosing and localizing focal congenital hyperinsulinism: systematic review and meta-analysis. Molecular Imaging and Biology, 2013, 15(1): 97-105.

Journal of Epilepsy

The clinical features of congenital hyperinsulinemia presenting seizures as the initial symptoms

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