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.	黃巧燕, 伊文霞, 符娜, 等.以意識障礙或驚厥為首發癥狀的兒童低血糖癥臨床特點和誤診分析.中國醫刊, 2013, 48(8): 22-24.
4.	杜敏聯.嬰兒持續性和復發性低血糖的診斷和治療.實用兒科臨床雜志, 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.	李偉, 肖新華.先天性高胰島素血癥.醫學研究雜志, 2016, 45(1): 12-16.
8.	桑艷梅, 劉敏, 閆潔, 等.二氮嗪治療先天性高胰島素血癥7例.實用兒科臨床雜志, 2011, 26(08): 619-621.
9.	徐子迪, 梁學軍, 閆潔, 等.伴高氨血癥的先天性高胰島素血癥23例臨床分析.臨床兒科雜志, 2013, 14(08): 793-794.
10.	楊琳, 楊曉燕, 石晶, 等.新生兒先天性高胰島素血癥診治進展.中華婦幼臨床醫學雜志(電子版), 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.	吳愛文, 劉麗, 李秀珍, 等.嬰兒持續性高胰島素血癥性低血糖癥12例臨床分析.中國當代兒科雜志, 2009, 11(10): 809-812.
15.	吳莉, 陳玲.二氮嗪聯合奧曲肽治療先天性高胰島素血癥1例.兒科藥學雜志, 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. 黃巧燕, 伊文霞, 符娜, 等.以意識障礙或驚厥為首發癥狀的兒童低血糖癥臨床特點和誤診分析.中國醫刊, 2013, 48(8): 22-24.
4. 杜敏聯.嬰兒持續性和復發性低血糖的診斷和治療.實用兒科臨床雜志, 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. 李偉, 肖新華.先天性高胰島素血癥.醫學研究雜志, 2016, 45(1): 12-16.
8. 桑艷梅, 劉敏, 閆潔, 等.二氮嗪治療先天性高胰島素血癥7例.實用兒科臨床雜志, 2011, 26(08): 619-621.
9. 徐子迪, 梁學軍, 閆潔, 等.伴高氨血癥的先天性高胰島素血癥23例臨床分析.臨床兒科雜志, 2013, 14(08): 793-794.
10. 楊琳, 楊曉燕, 石晶, 等.新生兒先天性高胰島素血癥診治進展.中華婦幼臨床醫學雜志(電子版), 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. 吳愛文, 劉麗, 李秀珍, 等.嬰兒持續性高胰島素血癥性低血糖癥12例臨床分析.中國當代兒科雜志, 2009, 11(10): 809-812.
15. 吳莉, 陳玲.二氮嗪聯合奧曲肽治療先天性高胰島素血癥1例.兒科藥學雜志, 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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