Congenital hyperinsulinism - Swiss Society of Neonatology

15
which are characterized by ß cells with enlarged nuclei
surrounded by normal tissue. In contrast, diffuse pancreatic
disease affects all the ß cells within the islets of
Langerhans (1). The focal form of CHI exhibits a particular
genetic pattern with a paternally inherited mutation
on chromosome 11p15.1 and a loss of the maternal
allele specifically in the cells of the focal lesion (4). The
majority of patients with diffuse disease have homozygous
or compound heterozygous mutations in ABCC8
and KCNJ11.
Advances in diagnostic imaging have revolutionized the
ability to localize lesions in the pancreas by the introduction
of integrated 18FDOPA-PET-CT that merges anatomical
and functional data. L-DOPA is adsorbed by neuroendocrine
and pancreas islet cells and metabolized into
dopamine. Beta cells of the pancreas possess dopamine
receptors. The uptake of 18FDOPA is considerably increased
in foci with high insulin synthesis rates. It is not
only possible to differentiate between diffuse and focal
forms with high sensitivity and specificity, but localization
of the focus can also be provided with a formerly
unthinkable precision of up to a few millimetres (5).
The goal of treatment in infants with CHI is to maintain
plasma glucose levels > 4 mmol/l. Long-term treatment
with diazoxide has dramatically reduced the need for
extensive surgical procedures. Diazoxide acts by keeping
the KATP channel open, thereby preventing depolarisation
of the ß cell membrane and insulin secretion.