Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxide
-
Justine Descamps
Abstract
Objectives
Serious hyperinsulinemic hypoglycemia (HH) is generally the main initial symptom of hyperinsulinism. Epilepsy, without any overt feature of hypoglycemia, might be a very rare initial presentation of late-onset isolated hyperinsulinism.
Case presentation
We describe a case of late-onset HH in a 15-year-old boy with a history of idiopathic generalized epilepsy, now named genetic generalized epilepsy (IGE/GGE), beginning with a tonic–clonic seizure at the age of 11 years. Subsequently, absences with rare eyelid myoclonia were recorded on electroencephalogram (EEG), followed by episodes of impaired consciousness with facial myoclonia. Neurological status was normal except attention-deficit hyperactivity disorder (ADHD). At the age of 15 years, an episode of slight alteration of consciousness with neurovegetative signs could be recorded, which did not correspond to an absence status. Hypoglycemia due to hyperinsulinism was documented (clinically, biologically, and genetically). Diazoxide treatment resolved the glycopenic symptoms, the non-hypoglycemic seizures and normalized brain electrical activity allowing complete withdrawal of antiepileptic medication.
Conclusions
Epilepsy can be a very rare initial feature of HH starting in childhood. The occurrence of atypical features in the context of GGE as “absence statuses” with unusual vegetative symptoms and facial myoclonia might be suggestive for HH. Careful assessment and specific treatment are necessary to prevent hyperinsulinism related brain damage. Our case showed that diazoxide might also resolve seizures and normalize EEG.
Acknowledgments
The authors thank the patient and his family for their contribution to this study.
-
Research funding: The authors received no funding for this study.
-
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
-
Competing interests: The authors have no conflict of interest to disclose.
-
Informed consent: The parents have given their written informed consent to publish the case.
-
Ethical approval: This research complies with all the relevant national regulations, institutional policies and in accordance with the tenets of the Helsinki Declaration, and was approved by the ethics committee of the Lyon University Children’s Hospital.
References
1. Rosenfeld, E, Ganguly, A, De Leon, DD. Congenital hyperinsulinism disorders: genetic and clinical characteristics. Am J Med Genet 2019;181C:682–92. https://doi.org/10.1002/ajmg.c.31737.Suche in Google Scholar PubMed PubMed Central
2. Gandhi, K. Approach to hypoglycemia in infants and children. Transl Pediatr 2017;6:408–20. https://doi.org/10.21037/tp.2017.10.05.Suche in Google Scholar PubMed PubMed Central
3. Gutgold, A, Gross, DJ, Glaser, B, Szalat, A. Diagnosis of ABCC8 congenital hyperinsulinism of infancy in a 20 year-old man evaluated for factitious hypoglycemia. J Clin Endocrinol Metab 2017;102:345–9. https://doi.org/10.1210/jc.2016-3254.Suche in Google Scholar PubMed
4. Halpin, K, McDonough, R, Alba, P, Halpin, J, Singh, V, Yan, Y. Vague neuroglycopenic complaints camouflage diagnosis of adolescent insulinoma: a case report. Int J Pediatr Endocrinol 2016;2016:14. https://doi.org/10.1186/s13633-016-0032-8.Suche in Google Scholar PubMed PubMed Central
5. Galcheva, S, Demirbilek, H, Al-Khawaga, S, Hussain, K. The genetic and molecular mechanisms of congenital hyperinsulinism. Front Endocrinol 2019;10:111. https://doi.org/10.3389/fendo.2019.00111.Suche in Google Scholar PubMed PubMed Central
6. Thornton, P, Truong, L, Reynolds, C, Hamby, T, Nedrelow, J. Rate of serious adverse events associated with diazoxide treatment of patients with hyperinsulinism. Horm Res Paediatr 2019;91:25–32. https://doi.org/10.1159/000497458.Suche in Google Scholar PubMed
7. Sousa-Santos, F, Simões, H, Castro-Feijóo, L, Rodríguez, PC, Fernández-Marmiesse, A, Fiaño, RS, et al.. Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes. Arch Endocrinol Metab 2018;62:560–5. https://doi.org/10.20945/2359-3997000000077.Suche in Google Scholar PubMed
8. Gataullina, S, Delonlay, P, Lemaire, E, Boddaert, N, Bulteau, C, Soufflet, C, et al.. Seizures and epilepsy in hypoglycemia caused by inborn errors of metabolism. Dev Med Child Neurol 2015;57:194–9. https://doi.org/10.1111/dmcn.12574.Suche in Google Scholar PubMed
9. Gloyn, AL1, Diatloff-Zito, C, Edghill, EL, Bellanné-Chantelot, C, Nivot, S, Coutant, R, et al.. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet 2006;14:824–30. https://doi.org/10.1038/sj.ejhg.5201629.Suche in Google Scholar PubMed
© 2021 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Editorial
- Covid19 pandemic and pediatric endocrinology and metabolism—Are we through with it?
- Original Articles
- Invisible burden of COVID-19: enzyme replacement therapy disruptions
- Anthropometric, biochemical and hormonal profiles of the partially admixed pygmoid group in Rampasasa (Flores, Indonesia)
- Etiologies, profile patterns and characteristics of children with short stature in Jordan
- Sexual maturity assessment in Indian children—a study from western India
- Bone density and bone health alteration in boys with Duchenne Muscular Dystrophy: a prospective observational study
- Sensory, voluntary, and motor postural control in children and adolescents with mucopolysaccharidosis
- Prevalence and MRI findings of incidentally detected pituitary non-enhancing lesion on brain MRI in children
- Oral glucose tolerance response curve predicts disposition index but not other cardiometabolic risk factors in healthy adolescents
- Early menarche is associated with insulin-resistance and non-alcoholic fatty liver disease in adolescents with obesity
- Liraglutide combined with intense lifestyle modification in the management of obesity in adolescents
- Exploring the inter-subject variability in the relationship between glucose monitoring metrics and glycated hemoglobin for pediatric patients with type 1 diabetes
- Screening for asymptomatic diabetes and metabolic comorbidities in pediatric patients during therapy for acute lymphoblastic leukemia
- Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry
- Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets
- Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China
- Case Reports
- Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family
- Severe hypercalcemia in an infant with unbalanced translocation of chromosomes 2 and 8: a possible contribution of 2p duplication
- Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxide
- Precocious sexual development in a male toddler caused by unrecognized transdermal exposure to testosterone: case report and review of the literature
Artikel in diesem Heft
- Frontmatter
- Editorial
- Covid19 pandemic and pediatric endocrinology and metabolism—Are we through with it?
- Original Articles
- Invisible burden of COVID-19: enzyme replacement therapy disruptions
- Anthropometric, biochemical and hormonal profiles of the partially admixed pygmoid group in Rampasasa (Flores, Indonesia)
- Etiologies, profile patterns and characteristics of children with short stature in Jordan
- Sexual maturity assessment in Indian children—a study from western India
- Bone density and bone health alteration in boys with Duchenne Muscular Dystrophy: a prospective observational study
- Sensory, voluntary, and motor postural control in children and adolescents with mucopolysaccharidosis
- Prevalence and MRI findings of incidentally detected pituitary non-enhancing lesion on brain MRI in children
- Oral glucose tolerance response curve predicts disposition index but not other cardiometabolic risk factors in healthy adolescents
- Early menarche is associated with insulin-resistance and non-alcoholic fatty liver disease in adolescents with obesity
- Liraglutide combined with intense lifestyle modification in the management of obesity in adolescents
- Exploring the inter-subject variability in the relationship between glucose monitoring metrics and glycated hemoglobin for pediatric patients with type 1 diabetes
- Screening for asymptomatic diabetes and metabolic comorbidities in pediatric patients during therapy for acute lymphoblastic leukemia
- Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry
- Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets
- Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China
- Case Reports
- Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family
- Severe hypercalcemia in an infant with unbalanced translocation of chromosomes 2 and 8: a possible contribution of 2p duplication
- Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxide
- Precocious sexual development in a male toddler caused by unrecognized transdermal exposure to testosterone: case report and review of the literature
