Congenital hyperinsulinism: localization of a focal lesion with 18F-FDOPA positron emission tomography

2021 ◽  
Author(s):  
Lisa J. States ◽  
Susan A. Becker ◽  
Diva D. De León
Keyword(s):  
Positron Emission Tomography ◽  
Emission Tomography ◽  
Focal Lesion ◽  
Congenital Hyperinsulinism ◽  
Positron Emission

scholarly journals The Diagnosis of Ectopic Focal Hyperinsulinism of Infancy with [18F]-Dopa Positron Emission Tomography

2006 ◽  
Vol 91 (8) ◽  
pp. 2839-2842 ◽  
Author(s):  
Khalid Hussain ◽  
Marko Seppänen ◽  
Kirsti Näntö-Salonen ◽  
N. Scott Adzick ◽  
Charles A. Stanley ◽  
...  
Keyword(s):  
Positron Emission Tomography ◽  
Emission Tomography ◽  
Focal Lesion ◽  
Hyperinsulinemic Hypoglycemia ◽  
Magnetic Resonance Imaging Scan ◽  
Congenital Hyperinsulinism ◽  
Positron Emission Tomography Scan ◽  
Focal Uptake ◽  
Positron Emission ◽  
Tomography Scan

Abstract Background: Congenital hyperinsulinism (CHI) is a cause of severe hypoglycemia in the neonatal and infancy period. Histologically, there are two subtypes with diffuse and focal disease. The preoperative differentiation of these two forms is very important because the surgical management is radically different. The focal form of the disease can be cured if the focal lesion can be localized accurately and completely resected with surgery. Aim: We report the case of a child who underwent three pancreatectomies with a choledochoduodenostomy and a cholecystectomy but continued to have severe hyperinsulinemic hypoglycemia. Methods/Results: Radiological investigations including imaging with 18fluoro-l-Dopa positron emission tomography scan showed a clear focus of increased 18F-fluoro-l-Dopa uptake in the vicinity of the former head of the pancreas. On the magnetic resonance imaging scan, this focal uptake appeared to localize adjacent or next to duodenum (in the wall or cavity of the duodenum). Conclusions: This unique case highlights the importance of correctly localizing and completely resecting the focal lesion in patients with CHI. 18Fluoro-l-Dopa positron emission tomography scan can identify ectopic focal lesions in patients with CHI.

scholarly journals Accuracy of [18F]Fluorodopa Positron Emission Tomography for Diagnosing and Localizing Focal Congenital Hyperinsulinism

2007 ◽  
Vol 92 (12) ◽  
pp. 4706-4711 ◽  
Author(s):  
Olga T. Hardy ◽  
Miguel Hernandez-Pampaloni ◽  
Janet R. Saffer ◽  
Joshua S. Scheuermann ◽  
Linda M. Ernst ◽  
...  
Keyword(s):  
Positron Emission Tomography ◽  
Emission Tomography ◽  
Congenital Hyperinsulinism ◽  
Positron Emission

scholarly journals Fluorine-18-l-Dihydroxyphenylalanine (18F-DOPA) Positron Emission Tomography as a Tool to Localize an Insulinoma or β-Cell Hyperplasia in Adult Patients

2007 ◽  
Vol 92 (4) ◽  
pp. 1237-1244 ◽  
Author(s):  
Saila Kauhanen ◽  
Marko Seppänen ◽  
Heikki Minn ◽  
Risto Gullichsen ◽  
Anna Salonen ◽  
...  
Keyword(s):  
Positron Emission Tomography ◽  
Neuroendocrine Tumors ◽  
Emission Tomography ◽  
Hyperinsulinemic Hypoglycemia ◽  
Congenital Hyperinsulinism ◽  
Β Cell ◽  
Cell Hyperplasia ◽  
Focal Uptake ◽  
Standardized Uptake Values ◽  
Positron Emission

Abstract Context and Objective: Fluorine-18-l-dihydroxyphenylalanine (18F-DOPA) positron emission tomography (PET) is a promising method in localizing neuroendocrine tumors. Recently, it has been shown to differentiate focal forms of congenital hyperinsulinism of infancy. The current study was set up to determine the potential of 18F-DOPA PET in identifying the insulin-secreting tumors or β-cell hyperplasia of the pancreas in adults. Patients and Methods: We prospectively studied 10 patients with confirmed hyperinsulinemic hypoglycemia and presumed insulin-secreting tumor using 18F-DOPA PET. Anatomical imaging was performed with computed tomography (CT) and magnetic resonance imaging (MRI). All patients were operated on, and histological verification was available in each case. Semiquantitative PET findings in the pancreas using standardized uptake values were compared to standardized uptake values of seven consecutive patients with nonpancreatic neuroendocrine tumors. Results: By visual inspection of 18F-DOPA PET images, it was possible in nine of 10 patients to localize the pancreatic lesion, subsequently confirmed by histological analysis. 18F-DOPA uptake was enhanced in six of seven solid insulinomas and in the malignant insulinoma and its hepatic metastasis. Two patients with β-cell hyperplasia showed increased focal uptake of 18F-DOPA in the affected areas. As compared to CT or MRI, 18F-DOPA PET was more sensitive in localizing diseased pancreatic tissue. Conclusion: 18F-DOPA PET was useful in most patients with insulinoma and negative CT, MRI, and ultrasound results. In agreement with previous findings in infants, preoperative 18F-DOPA imaging seems to be a method of choice for the detection of β-cell hyperplasia in adults. It should be considered for the detection of insulinoma or β-cell hyperplasia in patients with confirmed hyperinsulinemic hypoglycemias when other diagnostic work-up is negative.

Positron emission tomography in congenital hyperinsulinism

2011 ◽  
Vol 48 (2) ◽  
pp. 139-147 ◽  
Author(s):  
N. B. Mathur ◽  
Mahesh Sharma ◽  
Anil Agarwal ◽  
Ajay Kumar
Keyword(s):  
Positron Emission Tomography ◽  
Emission Tomography ◽  
Congenital Hyperinsulinism ◽  
Positron Emission

scholarly journals 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

2009 ◽  
Vol 160 (6) ◽  
pp. 1019-1023 ◽  
Author(s):  
Stefania Di Candia ◽  
Alessandra Gessi ◽  
Gino Pepe ◽  
Paola Sogno Valin ◽  
Eleonora Mangano ◽  
...  
Keyword(s):  
Positron Emission Tomography ◽  
Organic Acids ◽  
Novel Mutation ◽  
Ct Scanning ◽  
Emission Tomography ◽  
Acid Oxidation ◽  
Hyperinsulinemic Hypoglycemia ◽  
Congenital Hyperinsulinism ◽  
Positron Emission ◽  
Diffuse Form

ObjectiveCongenital 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 reportWe 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.ResultsThe 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.ConclusionsThis case indicates that mutations of the HADH gene should be sought in hyperinsulinemic patients in whom diffuse form of HI and autosomal recessive inheritance can be presumed when KCNJ11 and ABCC8 genes mutational screening is negative, even in the absence of altered organic acids and acylcarnitines concentration.

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