Lasting 18F-DOPA PET uptake after clinical remission of the focal form of congenital hyperinsulinism.

Abstract

BACKGROUND:

Positron emission tomography (PET) using (18)F-DOPA is a useful tool for detecting the focal forms of congenital hyperinsulinism. (18)F-DOPA is taken up by aromatic L-amino acid decarboxylase in pancreatic β-cells. However, the role of this enzyme in insulin secretion is unknown.

SUBJECTS AND METHODS:

A Japanese boy who presented with symptomatic hyperinsulinemic hypoglycemia at the age of 2 days and spontaneous resolution at 1 year and 10 months was subjected to mutational analysis and repeated (18)F-DOPA PET scans.

RESULTS:

Mutational analysis revealed a paternally inherited monoallelic mutation, c.4186G>T (p.D1396Y), in the ABCC8 gene, and an (18)F-DOPA PET scan revealed focal uptake in the body of the pancreas. The patient was successfully treated with frequent feeding. A follow-up PET scan revealed virtually identical uptake to that observed previously. However, in the arterial stimulation-venous sampling procedure, no significant insulin release was observed. He was placed on a normal diet, and no hypoglycemia recurrence was observed.

CONCLUSION:

This case demonstrates two important findings. Firstly, the uptake of (18)F-DOPA does not correlate with the insulin-secreting capacity of the lesion. Secondly, clinical remission could be a functional process not necessarily accompanied by the apoptotic death of abnormal β-cells.

• Authors: Tohru Yorifuji, Yuki Hosokawa, Rika Fujimaru, Rie Kawakita, Hiraku Doi, Takako Matsumoto, Hironori Nishibori, Michiya Masue
• Journal: Hormone research in paediatrics (Horm Res Paediatr) Vol. 76 Issue 4 Pg. 286-90 ( 2011) ISSN: 1663-2826 [Electronic] Switzerland
• PMID: 21912073 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2011 S. Karger AG, Basel.

Chemical References

• ATP-Binding Cassette Transporters
• Potassium Channels, Inwardly Rectifying
• Receptors, Drug
• Sulfonylurea Receptors
• fluorodopa F 18
• Dihydroxyphenylalanine

Topics

• ATP-Binding Cassette Transporters (genetics)
• Congenital Hyperinsulinism (diagnosis)
• Dihydroxyphenylalanine (analogs & derivatives)
• Follow-Up Studies
• Humans
• Infant
• Infant, Newborn
• Insulin-Secreting Cells (metabolism)
• Male
• Pancreas (metabolism)
• Positron-Emission Tomography (methods)
• Potassium Channels, Inwardly Rectifying (genetics)
• Receptors, Drug (genetics)
• Sulfonylurea Receptors