Abstract
The focal form of congenital hyperinsulinism (CHI) is characterized by a cluster of abnormal insulin-oversecreting β cells within a restricted area of the pancreas. Although identification of the focal lesion is very important in the management of CHI, it has been reported that imaging studies, including computed tomography (CT), magnetic resonance imaging (MRI) scans, or angiography, are not helpful in identifying the focal lesion. Currently, fluorine-18-L-dihydroxyphenylalanine positron emission tomography (18F-DOPA PET) is believed to be the only imaging modality that can identify the focal lesions. In this report, however, we present a case of a 7-month-old girl with the focal form of CHI, caused by a loss-of-function mutation in the ABCC8 gene, whose lesion was clearly visible as a hyperenhancing nodule on contrast-enhanced CT and dynamic MRI imaging.
Highlights
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in the neonatal/infantile period which often requires pancreatectomy when unresponsive to medical treatments [1–7].There are two known histological forms of CHI: diffuse and focal
The focal form is characterized by a cluster of abnormal insulin-oversecreting β cells within a restricted area of the pancreas, whereas in the diffuse form, abnormal β cells are scattered throughout the pancreas
Focal CHI arises in individuals with a paternally inherited monoallelic mutation in one of the genes coding for pancreatic ATP-sensitive potassium channel (KATP channel), KCNJ11 or ABCC8, both located sideby-side in the chromosomal 11p15.1 region [8, 9]
Summary
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in the neonatal/infantile period which often requires pancreatectomy when unresponsive to medical treatments [1–7]. We present a case of a 7month-old girl with the focal form of KATP channel CHI whose lesion was clearly visible as a hyperenhancing nodule on contrast-enhanced CT and dynamic MRI imaging corresponding to the site detected by 18F-DOPA PET scan. 18F-DOPA PET performed at 4 months of age revealed focal uptake in a single region in the head of the pancreas (Fig. 1). Based on these results, surgical resection of the focus was scheduled at 7 months of age. 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). The study protocol was approved by the Institutional Review Board (No 743), and written informed consent was obtained from the guardians of the patient
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