J Korean Med Sci.  2016 Jun;31(6):1003-1006. 10.3346/jkms.2016.31.6.1003.

Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma

• Kwon EB
• Jeong HR
• Shim YS
• Lee HS
• Hwang JS

• KMID: 2373713
• DOI: http://doi.org/10.3346/jkms.2016.31.6.1003

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 × 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.

Keyword

Multiple Endocrine Neoplasia; MEN1; Insulinoma, Hypoglycemia

MeSH Terms

Alleles
Base Sequence
Child
DNA Mutational Analysis
Female
Humans
Hypoglycemia/diagnosis
Insulin/blood
Insulinoma/diagnostic imaging/*pathology
Magnetic Resonance Imaging
Multiple Endocrine Neoplasia Type 1/*diagnosis/pathology
Pancreatic Neoplasms/diagnostic imaging/*pathology
Pedigree
Polymorphism, Single Nucleotide
Proto-Oncogene Proteins/genetics
Seizures/complications
Insulin
Proto-Oncogene Proteins

Figure

• 

  Fig. 1 MR study of the pancreas. (A) A mass with hyposignal intensity on T1 weighted images, 1.3 × 1.5 cm. (B) High signal intensity on T2 weighted images at the head of the pancreas.

• 

  Fig. 2 Pedigree and DNA sequencing analysis. MEN 1 mutation. (c.1121_1126delACCTGCinsGGGGA) was found in the patient, patient's father and younger sister.

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