Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology

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 ABCC8 mutation. Although the neurological features are more common in patients with KCJN11 mutations, patients with ABCC8 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.

Keywords

neonatal diabetes mellitus - ABCC8 - seizure

Publikationsverlauf

Eingereicht: 21. Dezember 2020

Angenommen: 11. Februar 2021

Artikel online veröffentlicht:
14. April 2021

• References

• 1 Lemelman MB, Letourneau L, Greeley SAW. Neonatal diabetes mellitus: an update on diagnosis and management. Clin Perinatol 2018; 45 (01) 41-59
• 2 Temple IK, Shield JP. Transient neonatal diabetes, a disorder of imprinting. J Med Genet 2002; 39 (12) 872-875
• 3 Flanagan SE, Patch AM, Mackay DJG. et al. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007; 56 (07) 1930-1937
• 4 De Franco E, Flanagan SE, Houghton JA. et al. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet 2015; 386 (9997): 957-963
• 5 Lee KW, Ching SM, Hoo FK. et al. Neonatal outcomes and its association among gestational diabetes mellitus with and without depression, anxiety and stress symptoms in Malaysia: a cross-sectional study. Midwifery 2020; 81: 102586
• 6 Lee KW, Ching SM, Devaraj NK. et al. 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) 3767
• 7 Letourneau L, Carmody D, Wroblewski K. et al. Diabetes presentation and management in infancy: high risk of diabetic ketoacidosis. Diabetes Care 2017; 40: e147-e148
• 8 Busiah K, Drunat S, Vaivre-Douret L. et al; French NDM study group. Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected]. Lancet Diabetes Endocrinol 2013; 1 (03) 199-207
• 9 Docherty LE, Kabwama S, Lehmann A. et al. Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia 2013; 56 (04) 758-762
• 10 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 (03) 137-146
• 11 Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic β-cell diabetes. Nat Clin Pract Endocrinol Metab 2008; 4 (04) 200-213
• 12 Mohamadi A, Clark LM, Lipkin PH, Mahone EM, Wodka EL, Plotnick LP. 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 2010; 11 (03) 203-207
• 13 Mlynarski W, Tarasov AI, Gach A. et al. Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11 . Nat Clin Pract Neurol 2007; 3 (11) 640-645
• 14 Slingerland AS, Nuboer R, Hadders-Algra M, Hattersley AT, Bruining GJ. 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 in the KCNJ11 gene. Diabetologia 2006; 49 (11) 2559-2563
• 15 Batra CM, Gupta N, Atwal G, Gupta V. Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1. Indian J Pediatr 2009; 76 (11) 1169-1172
• 16 Villa C, Combi R. Potassium channels and human epileptic phenotypes: an updated overview. Front Cell Neurosci 2016; 10: 81
• 17 Huang CW, Huang CC, Cheng JT, Tsai JJ, Wu SN. Glucose and hippocampal neuronal excitability: role of ATP-sensitive potassium channels. J Neurosci Res 2007; 85 (07) 1468-1477
• 18 Ovsyannikova AK, Rymar OD, Shakhtshneider EV. et al. ABCC8-related maturity-onset diabetes of the young (MODY12): clinical features and treatment perspective. Diabetes Ther 2016; 7 (03) 591-600
• 19 Patch AM, Flanagan SE, Boustred C, Hattersley AT, 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. 02) 28-39
• 20 Hernández-Sánchez C, Basile AS, Fedorova I. et al. Mice transgenically overexpressing sulfonylurea receptor 1 in forebrain resist seizure induction and excitotoxic neuron death. Proc Natl Acad Sci U S A 2001; 98 (06) 3549-3554