Congenital Hyperinsulinism: a case report

Setya Puspa Dewi Aprilyani, Stephanie Adelia, Adhie Nur Radityo, Agustini Utari
Department of Pediatrics, Faculty of Medicine Diponegoro University, Dr. Kariadi
General Hospital, Semarang, Indonesia

Background: Severe, persistent, and recurrent hypoglycemia in neonates could be

found in Congenital Hyperinsulinism (CHI), due to mutation in insulin regulation genes.
It is a very rare condition, occurring sporadically in 1:50.000 live births in a random
mating population. This condition may lead to hypoketotic hypoglycemia and risk
neurological defects.
Objective: To illustrate an infant with CHI.
Case Report: A 18-day-old female baby of third-degree consanguineous parents
delivered at term, large for gestational age (4,900 grams), developed hypoglycemia
soon after birth. She was referred due to persistent hypoglycemia, poor feeding,
multiple seizures, and growth faltering after 17 days of inpatient care in the primary
hospital. Physical examination showed the patient has no dysmorphic features, with no
palpitation and sweating. Biochemical interpretation at the exact time of hypoglycemia
(13 gr/dL) showed a normal insulin level of 11.84 uU/mL, normal ketone level of 0.3
mg/dL, normal growth hormone level of 14.4 ng/mL, and normal cortisol level of 16.8
ug/dL. The ketone was not detected in urine. Abdominal ultrasound showed no
pancreatic enlargement nor mass. Brain MRI examination suggested hypoglycemic
encephalopathy. Glucose infusion rate 12 and hydrocortisone failed to increase blood
glucose levels. Diazoxide, as the first-line drug, is not available in Indonesia. However,
improvement was shown after the administration of octreotide injection and nifedipine.
Conclusion: CHI is relatively rare but one of the most important causes of persistent
neonatal hypoglycemia that require attention. Prompt diagnosis and optimal
management of CHI are essential to decrease morbidity, mortality and improve long-
term outcome.

Keyword: persistent hypoglycemia, congenital hyperinsulinism, diazoxide