Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology

Overview

Journal J Pediatr Genet

Publisher Thieme

Specialty Pediatrics

Date 2023 Aug 14

PMID 37575648

Authors

Sevinc Odabasi Gunes

Erhan Calisici

Mutluay Arslan

Onur Akin

Belma Saygili Karagol

Affiliations

Soon will be listed here.

Abstract

Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes, usually occurring in the first 6 months of life. Here, we present a newborn, which was admitted with epileptic seizure on the postnatal second day of life. Sepsis and meningitis were ruled out. Cranial imaging and electroencephalography revealed normal. She developed transient NDM on the follow-up and was diagnosed to carry an mutation. Although the neurological features are more common in patients with mutations, patients with mutations could also represent with subtle neurodevelopmental changes or even with epileptic seizures. The genetic testing and appropriate therapy is important in this patient group for predicting clinical course and possible additional features.

Citing Articles

Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.

Chang G, Ying L, Zhang Q, Feng B, Yao R, Ding Y BMC Endocr Disord. 2024; 24(1):8.

PMID: 38212772 PMC: 10785495. DOI: 10.1186/s12902-023-01527-8.

Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?.

Ali Khan I Heliyon. 2021; 7(9):e07903.

PMID: 34584998 PMC: 8455689. DOI: 10.1016/j.heliyon.2021.e07903.

References

Mohamadi A, Clark L, Lipkin P, Mahone E, Wodka E, Plotnick L . Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM. Pediatr Diabetes. 2009; 11(3):203-7. DOI: 10.1111/j.1399-5448.2009.00548.x. View

Letourneau L, Carmody D, Wroblewski K, Denson A, Sanyoura M, Naylor R . Diabetes Presentation in Infancy: High Risk of Diabetic Ketoacidosis. Diabetes Care. 2017; 40(10):e147-e148. PMC: 5606305. DOI: 10.2337/dc17-1145. View

Busiah K, Drunat S, Vaivre-Douret L, Bonnefond A, Simon A, Flechtner I . Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected]. Lancet Diabetes Endocrinol. 2014; 1(3):199-207. DOI: 10.1016/S2213-8587(13)70059-7. View

Lee K, Ching S, Devaraj N, Chong S, Lim S, Loh H . Diabetes in Pregnancy and Risk of Antepartum Depression: A Systematic Review and Meta-Analysis of Cohort Studies. Int J Environ Res Public Health. 2020; 17(11). PMC: 7311953. DOI: 10.3390/ijerph17113767. View

Rubio-Cabezas O, Ellard S . Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options. Horm Res Paediatr. 2013; 80(3):137-46. PMC: 3884170. DOI: 10.1159/000354219. View

Ovsyannikova A, Rymar O, Shakhtshneider E, Klimontov V, Koroleva E, Myakina N . ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): Clinical Features and Treatment Perspective. Diabetes Ther. 2016; 7(3):591-600. PMC: 5014798. DOI: 10.1007/s13300-016-0192-9. View

Huang C, Huang C, Cheng J, Tsai J, Wu S . Glucose and hippocampal neuronal excitability: role of ATP-sensitive potassium channels. J Neurosci Res. 2007; 85(7):1468-77. DOI: 10.1002/jnr.21284. View

Lemelman M, Letourneau L, Greeley S . Neonatal Diabetes Mellitus: An Update on Diagnosis and Management. Clin Perinatol. 2018; 45(1):41-59. PMC: 5928785. DOI: 10.1016/j.clp.2017.10.006. View

Slingerland A, Nuboer R, Hadders-Algra M, Hattersley A, Bruining G . Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation.... Diabetologia. 2006; 49(11):2559-63. DOI: 10.1007/s00125-006-0407-0. View

10.

Mlynarski W, Tarasov A, Gach A, Girard C, Pietrzak I, Zubcevic L . Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11. Nat Clin Pract Neurol. 2007; 3(11):640-5. DOI: 10.1038/ncpneuro0640. View

11.

Patch A, Flanagan S, Boustred C, Hattersley A, Ellard S . Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. Diabetes Obes Metab. 2007; 9 Suppl 2:28-39. PMC: 7611803. DOI: 10.1111/j.1463-1326.2007.00772.x. View

12.

Temple I, Shield J . Transient neonatal diabetes, a disorder of imprinting. J Med Genet. 2002; 39(12):872-5. PMC: 1757233. DOI: 10.1136/jmg.39.12.872. View

13.

Flanagan S, Patch A, Mackay D, Edghill E, Gloyn A, Robinson D . Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes. 2007; 56(7):1930-7. PMC: 7611811. DOI: 10.2337/db07-0043. View

14.

Lee K, Ching S, Hoo F, Ramachandran V, Chong S, Tusimin M . Neonatal outcomes and its association among gestational diabetes mellitus with and without depression, anxiety and stress symptoms in Malaysia: A cross-sectional study. Midwifery. 2019; 81:102586. DOI: 10.1016/j.midw.2019.102586. View

15.

Murphy R, Ellard S, Hattersley A . Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab. 2008; 4(4):200-13. DOI: 10.1038/ncpendmet0778. View

16.

Docherty L, Kabwama S, Lehmann A, Hawke E, Harrison L, Flanagan S . Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia. 2013; 56(4):758-62. DOI: 10.1007/s00125-013-2832-1. View

17.

Hernandez-Sanchez C, Basile A, Fedorova I, Arima H, STANNARD B, Fernandez A . Mice transgenically overexpressing sulfonylurea receptor 1 in forebrain resist seizure induction and excitotoxic neuron death. Proc Natl Acad Sci U S A. 2001; 98(6):3549-54. PMC: 30690. DOI: 10.1073/pnas.051012898. View

18.

Batra C, Gupta N, Atwal G, Gupta V . Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1. Indian J Pediatr. 2010; 76(11):1169-72. DOI: 10.1007/s12098-009-0222-y. View

19.

De Franco E, Flanagan S, Houghton J, Lango Allen H, Mackay D, Temple I . The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet. 2015; 386(9997):957-63. PMC: 4772451. DOI: 10.1016/S0140-6736(15)60098-8. View

20.

Villa C, Combi R . Potassium Channels and Human Epileptic Phenotypes: An Updated Overview. Front Cell Neurosci. 2016; 10:81. PMC: 4811893. DOI: 10.3389/fncel.2016.00081. View