Article

Diagnosis and localization of focal congenital hyperinsulinism by F-18-Fluorodopa PET scan

Division of Endocrinology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
The Journal of pediatrics (Impact Factor: 3.74). 03/2007; 150(2):140-5. DOI: 10.1016/j.jpeds.2006.08.028
Source: PubMed

ABSTRACT To assess the accuracy of 18F-fluoro-L-dihydroxyphenylalanine ([18F]-DOPA) PET scans to diagnose focal versus diffuse disease and to localize focal lesions in infants with congenital hyperinsulinism.
Twenty-four infants with hyperinsulinism unresponsive to medical therapy were studied. Patients were injected intravenously with [18F]-DOPA, and PET scans were obtained for 1 hour. Images were coregistered with abdominal CT scans.
The diagnosis of focal or diffuse hyperinsulinism was correct in 23 of the 24 cases (96%) and equivocal in 1 case. [18F]-DOPA PET identified focal areas of high uptake of radiopharmaceutical in 11 patients. Pathology results confirmed that all 11 had focal adenomatosis, and the locations of these lesions matched the areas of increased [18F]-DOPA uptake on the PET scans in all of the cases.
[18F]-DOPA PET scans were 96% accurate in diagnosing focal or diffuse disease and 100% accurate in localizing the focal lesion. These results suggest that [18F]-DOPA PET imaging should be considered in all infants with congenital hyperinsulinism who need to have pancreatectomy.

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    • "LOCATION PHENOTYPE MUTATION TYPE NUCLEOTIDE & SYSTEMATIC NAME PROTEIN EFFECT CpG DINUCLEOTIDE REFERENCE FUNCTIONAL CHARACTERISATION Exon 29 HI Frameshift c.3577del G D1193MfsX16 p.Asp1193MetfsX16 (Greer , et al., 2007) Exon 29 HI Missense NA D1194V p.Asp1194Val (Muzyamba , et al., 2007) (Muzyamba, et al., 2007) Exon 29 HI Missense c.3643C>T R1215W p.Arg1215Trp Yes (Stanley, et al., 2004; Peranteau, et al., 2006; Suchi, et al., 2006; Yan, et al., 2007) Exon 29 HI Missense c.3644G>A R1215Q p.Arg1215Gln Yes (Nestorowicz, et al., 1998; Shyng, et al., 1998; Suchi, et al., 2003; Stanley, et al., 2004) (Shyng, et al., 1998) Intron 29 HI Splice site c.3653+2T>C Aberrant splicing p.? (Ohkubo , et al., 2005) Intron 29 HI Splice site c.3654-1G>T Abberant splicing p.? - (Aguilar-Bryan and Bryan, 1999) Exon 30 HI Missense c.3751C>T R1251X p.Arg1251X Yes (Fernandez- Marmiesse, et al., 2006) Exon 31 PNDM Missense c.3868A>G M1290V p.Met1290Val No (Patch, et al., 2007) LOCATION PHENOTYPE MUTATION TYPE NUCLEOTIDE & SYSTEMATIC NAME PROTEIN EFFECT CpG DINUCLEOTIDE REFERENCE FUNCTIONAL CHARACTERISATION Exon 32 HI Missense c.3888C>G N1296K p.Asn1296Lys No (Fernandez- Marmiesse, et al., 2006) Exon 32 TNDM Missense c.3941G>A R1314H p.Arg1314His Yes (Patch, et al., 2007) Exon 32 PNDM Missense c.3979G>A E1327K* Glu1327Lys Yes (Ellard, et al., 2007) Intron 32 HI Splice site c.3991+2_+15del14 Aberrant splicing p.? (Giurgea , et al., 2006) Intron 32 HI Splice site c.3992-9G>A Aberrant splicing p.? (Thomas , et al., 1995; Nestorowicz, et al., 1996; Nestorowicz, et al., 1998; Shyng, et al., 1998; Glaser, et al., 1999; Grimberg, et al., 2001; Suchi, et al., 2003; Stanley, et al., 2004; Tornovsky, et al., 2004; Fernandez- Marmiesse, et al., 2006; Fourtner, et al., 2006; Suchi, et LOCATION PHENOTYPE MUTATION TYPE NUCLEOTIDE & SYSTEMATIC NAME PROTEIN EFFECT CpG DINUCLEOTIDE REFERENCE FUNCTIONAL CHARACTERISATION al., 2006; Greer, et al., 2007; Hardy, et al., 2007 "
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