# 18F-DOPA PET/MRI With Carbidopa for the Diagnosis of Hyperinsulinemic Hypoglycemia in an Adolescent Patient

**Authors:** Carine Anka, Maria Rosana Ponisio, Patrick A Dillon, Chelsea Schmitt, Tyler J Fraum, Ana María Arbeláez

PMC · DOI: 10.1210/jcemcr/luae153 · 2024-08-21

## TL;DR

A 14-year-old boy with hypoglycemia was diagnosed using 18F-DOPA PET/MRI, showing its value for detecting rare pancreatic issues in adolescents.

## Contribution

Demonstrates the effectiveness of 18F-DOPA PET/MRI for diagnosing focal hyperinsulinism in adolescents when conventional imaging fails.

## Key findings

- 18F-DOPA PET/MRI identified focal pancreatic islet cell hyperplasia in a patient with hypoglycemia.
- Surgical removal of the affected pancreatic tissue normalized blood glucose and reduced seizures.
- Genetic testing ruled out common mutations associated with hyperinsulinism.

## Abstract

Hyperinsulinism due to focal or diffuse pancreatic lesions causing recurrent episodes of hypoglycemia is rare in mid-childhood. There is no consensus on the gold-standard imaging method to diagnose focal insulin-producing lesions beyond infancy. A 14-year-old boy with a complex medical history and refractory epilepsy, presented with blood glucose (BG) of 52 mg/dL (2.9 mmol/L) (normal reference range: 70-100 mg/dL [3.9-5.6 mmol/L]) and increased seizure frequency. He failed a fast within 4 hours, with BG of 48 mg/dL (2.7 mmol/L) and insulin level of 4.6 µIU/mL (24.6 pmol/L) (diagnostic at the time of hypoglycemia >1.25 μU/mL [8.7 pmol/L]). Conventional imaging studies showed no pancreatic lesion. Fluorine-18-L-dihydroxyphenylalanine positron emission tomography/magnetic resonance imaging (18F-DOPA-PET/MRI) scan premedicated with carbidopa demonstrated intense focal 18F-DOPA uptake in the distal pancreatic tail. He underwent distal pancreatectomy. Histopathology showed focal pancreatic islet cell hyperplasia, with more than 90% of the neuroendocrine islet cells being positive for chromogranin and synaptophysin, with no loss of p57 staining. Genetic studies were negative for mutations in ABCC8, KCNJ11, GCK, or GLUD1 genes, multiple endocrine neoplasia (MEN) type 1, and Beckwith-Wiedemann syndrome. BG normalized after surgery. Seizure frequency improved. This case highlights the utility of 18F-DOPA PET/MRI imaging in diagnosing focal hyperinsulinism beyond infancy.

## Linked entities

- **Genes:** ABCC8 (ATP binding cassette subfamily C member 8) [NCBI Gene 6833], KCNJ11 (potassium inwardly rectifying channel subfamily J member 11) [NCBI Gene 3767], GCK (glucokinase) [NCBI Gene 2645], GLUD1 (glutamate dehydrogenase 1) [NCBI Gene 2746]
- **Chemicals:** carbidopa (PubChem CID 34359), 18F-DOPA (PubChem CID 56494)
- **Diseases:** hyperinsulinemic hypoglycemia (MONDO:0005803), Beckwith-Wiedemann syndrome (MONDO:0007534), multiple endocrine neoplasia (MONDO:0017169)

## Full-text entities

- **Genes:** CDKN1C (cyclin dependent kinase inhibitor 1C) [NCBI Gene 1028] {aka BWCR, BWS, KIP2, WBS, p57, p57Kip2}, GLUD1 (glutamate dehydrogenase 1) [NCBI Gene 2746] {aka GDH, GDH1, GLUD, hGDH1}, KCNJ11 (potassium inwardly rectifying channel subfamily J member 11) [NCBI Gene 3767] {aka BIR, HHF2, IKATP, KIR6.2, MODY13, PHHI}, SYP (synaptophysin) [NCBI Gene 6855] {aka MRX96, MRXSYP, XLID96}, INS (insulin) [NCBI Gene 3630] {aka IDDM, IDDM1, IDDM2, ILPR, IRDN, MODY10}, ABCC8 (ATP binding cassette subfamily C member 8) [NCBI Gene 6833] {aka ABC36, HHF1, HI, HRINS, MODY12, MRP8}, GCK (glucokinase) [NCBI Gene 2645] {aka FGQTL3, GK, GLK, HHF3, HK4, HKIV}
- **Diseases:** multiple endocrine neoplasia (MEN) type 1 (MESH:D018761), Hyperinsulinism (MESH:D006946), Beckwith-Wiedemann syndrome (MESH:D001506), Seizure (MESH:D012640), Hyperinsulinemic Hypoglycemia (MESH:D044903), pancreatic islet cell hyperplasia (MESH:D007516), hypoglycemia (MESH:D007003), insulin-producing lesions (MESH:C538111), pancreatic lesion (MESH:D010182), refractory epilepsy (MESH:D000069279)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC11337120/full.md

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Source: https://tomesphere.com/paper/PMC11337120