focal form of congenital hyperinsulinism

Digital cases

 Case 131
 Case 134

Definition; Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. The pre-operative differentiation of focal from diffuse forms is extremely important from the management point of view. The current methods for pre-operative differentiation are invasive.

References

Genetics

 Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism. Damaj L, le Lorch M, Verkarre V, Werl C, Hubert L, Nihoul-Fékété C, Aigrain Y, de Keyzer Y, Romana SP, Bellanne-Chantelot C, de Lonlay P, Jaubert F. J Clin Endocrinol Metab. 2008 Dec;93(12):4941-7. PMID: 18796520

 Neonatal hyperinsulinism: clinicopathologic correlation. Delonlay P, Simon A, Galmiche-Rolland L, Giurgea I, Verkarre V, Aigrain Y, Santiago-Ribeiro MJ, Polak M, Robert JJ, Bellanne-Chantelot C, Brunelle F, Nihoul-Fekete C, Jaubert F. Hum Pathol. 2007 Mar;38(3):387-99. PMID: 17303499

 Adzick NS, Thornton PS, Stanley CA, Kaye RD, Ruchelli E. A multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy. J Pediatr Surg. 2004 Mar;39(3):270-5. PMID: 15017536

 Sempoux C, Guiot Y, Dahan K, Moulin P, Stevens M, Lambot V, de Lonlay P, Fournet JC, Junien C, Jaubert F, Nihoul-Fekete C, Saudubray JM, Rahier J. The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. Diabetes. 2003 Mar;52(3):784-94. PMID: 12606521

 Fournet JC, Mayaud C, de Lonlay P, Gross-Morand MS, Verkarre V, Castanet M, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fekete C, Saudubray JM, Junien C. Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. Am J Pathol. 2001 Jun;158(6):2177-84. PMID: 11395395

Radiology

 Novel use of somatostatin receptor scintigraphy in localization of focal congenital hyperinsulinism: promising but fallible. Dutta S, Venkataseshan S, Bal C, Rao KL, Gupta K, Bhattacharya A, Narang A. J Pediatr Endocrinol Metab. 2009 Oct;22(10):965-9. PMID: 20020586

 Value of 18F-fluoro-L-dopa PET in the preoperative localization of focal lesions in congenital hyperinsulinism. Capito C, Khen-Dunlop N, Ribeiro MJ, Brunelle F, Aigrain Y, Crétolle C, Jaubert F, De Lonlay P, Nihoul-Fékété C. Radiology. 2009 Oct;253(1):216-22. PMID: 19709999

 Predictive value of postoperative glycosuria after partial elective pancreatectomy in focal congenital hyperinsulinism. Khen-Dunlop N, Capito C, Valayannopoulos V, Elie C, Ribeiro MJ, Rahier J, Jaubert F, Robert JJ, Aigrain Y, de Lonlay P, Fékété CN. Diabetes Care. 2008 Oct;31(10):e71. PMID: 18820217