title: Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma.
abstract: Multiple endocrine neoplasia (MEN) mutation is an autosomal dominant disorder characterized by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumors. The incidence of insulinoma in MEN is relatively uncommon, and there have been a few cases of MEN manifested with insulinoma as the first symptom in children. We experienced a 9-year-old girl having a familial MEN1 mutation. She complained of dizziness, occasional palpitation, weakness, hunger, sweating, and generalized tonic-clonic seizure that lasted for 5 minutes early in the morning. At first, she was only diagnosed with insulinoma by abdominal magnetic resonance images of a 1.3 x 1.5 cm mass in the pancreas and high insulin levels in blood of the hepatic vein, but after her father was diagnosed with MEN1. We found she had familial MEN1 mutation, and she recovered hyperinsulinemic hypoglycemia after enucleation of the mass. Therefore, the early genetic identification of MEN1 mutation is considerable for children with at least one manifestation.
authors.affiliation: Department of Pediatrics, CHA Bundang Medical Center, CHA University School of Medicine, Seongnam, Korea .
authors.forename: Eun Byul
authors.identifier: 0000-0002-1500-1925
authors.initials: EB
authors.lastname: Kwon
authors.affiliation: Department of Pediatrics, Masan Medical Center, Changwon, Korea .
authors.forename: Hwal Rim
authors.initials: HR
authors.lastname: Jeong
authors.affiliation: Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea .
authors.forename: Young Seok
authors.initials: YS
authors.lastname: Shim
authors.affiliation: Department of Pediatrics, Ajou University School of Medicine, Ajou University Hospital, Suwon, Korea .
authors.forename: Hae Sang
authors.initials: HS
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Ajou University School of Medicine, Ajou University Hospital, Suwon, Korea .
authors.forename: Jin Soon
authors.identifier: 0000-0002-2666-3801
authors.initials: JS
authors.lastname: Hwang
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000175:diagnosis; D007328:Insulin / Q000097:blood; D007340:Insulinoma / Q000000981:diagnostic imaging / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis* / Q000473:pathology; D010190:Pancreatic Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012640:Seizures / Q000150:complications
chemical_list: D007328:Insulin; C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins
keywords: Insulinoma, Hypoglycemia; MEN1; Multiple Endocrine Neoplasia