PMC4570655_01
18F-DOPA PET scan. A focal lesion was identified in the head of the pancreas (arrow)
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Fig1
Mutational analysis revealed that she had a paternally inherited monoallelic mutation in the ABCC8 gene (c.2506C > T, p.Arg836*). 18F-DOPA PET performed at 4 months of age revealed focal uptake in a single region in the head of the pancreas (Fig. 1).
CT scan. A hyperenhancing nodule was identified on the arterial phase
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Fig2
Unexpectedly, a contrast-enhanced CT scan revealed a clearly enhancing nodule at the head of the pancreas, corresponding to the site of the focus detected by the 18F-DOPA PET scan (Fig. 2).
Macroscopic finding of the focus. A nodule with a clear margin was identified in the head of the pancreas at laparotomy
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Fig3
On laparotomy, a firmer focal lesion, measuring about 9 mm in diameter, was visible in the head of the pancreas which could be easily resected (Fig. 3).
Histological findings of the resected focus. a Hematoxylin eosin staining (x400). Some of the beta cells within the lesion had enlarged nuclei (arrow). b Insulin staining (x 400). An increased number of insulin-positive beta cells were observed within the lesion
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Fig4
The islets were adenoma-like, and some of the beta cells within the lesion had enlarged nuclei typical of the focal form of CHI (Fig. 4). Insulin immunostaining showed increased insulin producing beta cells within the lesion (Fig. 4).
Mutational analysis of the ABCC8 gene. a DNA obtained from the peripheral blood leukocytes of the patient. A c.2506C > T mutation was detected in the heterozygous state with the wild type allele. The mutation was found to be of paternal origin (data not shown). b DNA obtained from the focus by laser microdissection. A loss of the wild type maternal allele was evident. The reduced peak of the wild type allele probably reflects the normal tissue within the focus
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Fig5
Sequencing analysis of the ABCC8 gene revealed predominance of a mutated paternal allele from these abnormal islets, confirming the diagnosis of the focal form of KATP channel CHI (Fig. 5).