{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T07:26:09Z","timestamp":1777533969861,"version":"3.51.4"},"reference-count":9,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0381_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0381_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>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\u2013clonic 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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0381_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Epilepsy can be a very rare initial feature of HH starting in childhood. The occurrence of atypical features in the context of GGE as \u201cabsence statuses\u201d 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.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0381","type":"journal-article","created":{"date-parts":[[2021,3,4]],"date-time":"2021-03-04T19:50:57Z","timestamp":1614887457000},"page":"667-673","source":"Crossref","is-referenced-by-count":4,"title":["Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxide"],"prefix":"10.1515","volume":"34","author":[{"given":"Justine","family":"Descamps","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , HFME, Hospices Civils de Lyon , Bron , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyril","family":"Ruello","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , HFME, Hospices Civils de Lyon , Bron , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin","family":"Perge","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , HFME, Hospices Civils de Lyon , Bron , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julitta","family":"de Bellescize","sequence":"additional","affiliation":[{"name":"Department of Epileptology , Sleep Disorders and Functional Pediatric Neurology, HFME, Hospices Civils de Lyon , Bron , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9cile","family":"Saint-Martin","sequence":"additional","affiliation":[{"name":"Department of Genetics , Piti\u00e9-Salp\u00eatri\u00e8re Hospital, AP-HP , Paris , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Nicolino","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , HFME, Hospices Civils de Lyon , Bron , France"},{"name":"Faculty of Medicine , Claude-Bernard Lyon 1 University , Lyon , France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,3,4]]},"reference":[{"key":"2023040101405212242_j_jpem-2020-0381_ref_001","doi-asserted-by":"crossref","unstructured":"Rosenfeld, E, Ganguly, A, De Leon, DD. Congenital hyperinsulinism disorders: genetic and clinical characteristics. Am J Med Genet 2019;181C:682\u201392. https:\/\/doi.org\/10.1002\/ajmg.c.31737.","DOI":"10.1002\/ajmg.c.31737"},{"key":"2023040101405212242_j_jpem-2020-0381_ref_002","doi-asserted-by":"crossref","unstructured":"Gandhi, K. Approach to hypoglycemia in infants and children. Transl Pediatr 2017;6:408\u201320. https:\/\/doi.org\/10.21037\/tp.2017.10.05.","DOI":"10.21037\/tp.2017.10.05"},{"key":"2023040101405212242_j_jpem-2020-0381_ref_003","doi-asserted-by":"crossref","unstructured":"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. 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Rate of serious adverse events associated with diazoxide treatment of patients with hyperinsulinism. Horm Res Paediatr 2019;91:25\u201332. https:\/\/doi.org\/10.1159\/000497458.","DOI":"10.1159\/000497458"},{"key":"2023040101405212242_j_jpem-2020-0381_ref_007","doi-asserted-by":"crossref","unstructured":"Sousa-Santos, F, Sim\u00f5es, H, Castro-Feij\u00f3o, L, Rodr\u00edguez, PC, Fern\u00e1ndez-Marmiesse, A, Fia\u00f1o, RS, et al.. Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes. Arch Endocrinol Metab 2018;62:560\u20135. https:\/\/doi.org\/10.20945\/2359-3997000000077.","DOI":"10.20945\/2359-3997000000077"},{"key":"2023040101405212242_j_jpem-2020-0381_ref_008","doi-asserted-by":"crossref","unstructured":"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. 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