The most common reason for refractory
hypoglycemia in newborns is
congenital hyperinsulinism. We report a girl with
congenital hyperinsulinism due to novel homozygous mutation (c.2041-25 G>A; aberrant splicing mutation) in the ABCC8 gene encoding SUR1 and during
somatostatin analog (
octreotide) discontinuation developed by nonhypoglycemic
seizures. The newborn (
birth weight of 3,750 g) was referred to our clinic because of
hypoglycemic seizures at 4 h postnatal. On admission,
blood glucose was 24 mg/dL and intravenous
glucose infusion was started. The patient's
insulin level was 27 mIU/mL during the
hypoglycemic period.
Phenobarbital (5 mg/ kg/day) was added because of short-acting generalized
clonic seizures. Although the patient received high doses of
diazoxide,
esidrex, and
octreotide approximately for 2 months,
hypoglycemic episodes continued. Then the patient had near-total
pancreatectomy, and pathology confirmed a diffuse form of
congenital hyperinsulinism. There was homozygous mutation in the ABCC8 gene encoding SUR1, which confirmed the diagnosis of autosomal recessive
congenital hyperinsulinism. During
octreotide discontinuation, the patient developed non-
hypoglycemic seizures, which were controlled by restarting the previous doses. In the light of in vitro and in vivo studies on
antiepileptic effects of
somatostatin, we believe that
seizures in our case have developed secondary
octreotide discontinuity.