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Focal congenital hyperinsulinism in a patient with septo-optic dysplasia

Nature Reviews Endocrinology volume 6, pages 646–650 (2010)Cite this article

Subjects

Abstract

Background. An infant diagnosed as having hypopituitarism and on adequate hydrocortisone replacement therapy was referred to a tertiary endocrine unit at 5 weeks of age with persistent hypoglycemia that required a high rate of intravenous glucose infusion (up to 18 mg/kg•min−1) to maintain euglycemia.

Investigations. A controlled hypoglycemia screen was performed to measure levels of plasma glucose, insulin, C-peptide and 3-β-hydroxybutyrate concentrations. The pancreas was analyzed by fluorine-18-L-3,4-dihydroxyphenylalanine (18F-DOPA) PET scan. Genetic analyses were performed on the peripheral blood leukocytes, and loss of heterozygosity within the resected focal lesion of the pancreas was investigated by microsatellite analysis. A glucagon stimulation test helped determine pituitary function, and an MRI of the brain and pituitary gland was performed to define the anatomy of the intracranial structures and the pituitary gland.

Diagnosis. Focal form of congenital hyperinsulinism localized to the head of the pancreas, septo-optic dysplasia and pituitary hormone deficiencies.

Management. Resection of the focal lesion from the head of the pancreas and hormonal replacement therapy for hypopituitarism.

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Figure 1: Fluorine-18-L-3,4-dihydroxyphenylalanine (18F-DOPA) PET scan demonstrating a focal lesion in the head of the pancreas of the case patient.
Figure 2: MRI scans of the case patient's pituitary gland and cranium.

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Acknowledgements

Written consent for publication was obtained from the patient's responsible relative. Charles P. Vega, University of California, Irvine, CA, is the author of and is solely responsible for the content of the learning objectives, questions and answers of the MedscapeCME-accredited continuing medical education activity associated with this article.

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Authors and Affiliations

  1. Clinical and Molecular Genetics Unit, UCL Institute of Child Health and Great Ormond Street Hospital for Children, 30 Guilford Street, WC1N 1EH, London, UK

    Raja Padidela, Ritika R. Kapoor, Yuva Moyo, Clare Gilbert & Khalid Hussain

  2. Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, EX2 5DW, Exeter, UK

    Sarah E. Flanagan & Sian Ellard

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  1. Raja Padidela
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  7. Khalid Hussain
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Contributions

R. R. Kapoor, Y. Moyo, C. Gilbert and K. Hussain researched the data for the article. R. Padidela, R. R. Kapoor, Y. Moyo, S. E. Flanagan, S. Ellard and K. Hussain provided a substantial contribution to discussions of the content. R. Padidela, R. R. Kapoor, S. E. Flanagan, S. Ellard and K. Hussain contributed equally to writing the article. R. Padidela and K. Hussain both reviewed and/or edited the manuscript before submission.

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Correspondence to Khalid Hussain.

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The authors declare no competing financial interests.

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Padidela, R., Kapoor, R., Moyo, Y. et al. Focal congenital hyperinsulinism in a patient with septo-optic dysplasia. Nat Rev Endocrinol 6, 646–650 (2010). https://doi.org/10.1038/nrendo.2010.153

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