Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3, 4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene

Stefania Di Candia, Alessandra Gessi, Gino Pepe, Paola Sogno Valin, Eleonora Mangano, Giuseppe Chiumello, Luigi Gianolli, Maria Carla Proverbio, Stefano Mora

Research output: Contribution to journalArticle

Abstract

Objective: Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in infancy (HI), leading to severe neurologic disabilities if not promptly treated. The recent application of positron emission tomography (PET)/computed tomography (CT) scanning with 18-fluoro-L-3,4 dihydroxyphenylalanine improved the ability to distinguish the two histopathologic forms of HI (focal and diffuse), whose differentiation heavily influences the therapeutic management of the patient. Case report: We describe the case of a patient presenting with severe hypoglycemia from infancy. High concentration of insulin suggested the diagnosis of congenital hyperinsulinism. No metabolic disorders related to amino acid, organic acids or fatty acid oxidation were detected. Medical treatment was able to obtain a satisfactory metabolic response. Results: The patient underwent PET/CT scanning, revealing a diffuse form of the disease. The absence of mutations in KCNJ11 and ABCC8 genes (responsible for 50% of HI cases), and whole genome single nucleotide polymorphisms analysis by microarray suggested the HADH gene as a likely candidate. Sequence analysis revealed a novel homozygous nonsense mutation (R236X) in HADH gene. Conclusions: This case indicates that mutations of the HADH gene should be sought in hyperinsulinemic patients inwhom diffuse form of HI and autosomal recessive inheritance can be presumedwhen KCNJ11 and ABCC8 genes mutational screening is negative, even in the absence of altered organic acids and acylcarnitines concentration.

Original languageEnglish
Pages (from-to)1019-1023
Number of pages5
JournalEuropean Journal of Endocrinology
Volume160
Issue number6
DOIs
Publication statusPublished - 2009

ASJC Scopus subject areas

  • Endocrinology
  • Medicine(all)
  • Endocrinology, Diabetes and Metabolism

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