Page 186 - Abstract Book KONIKA 18

Endocrinology

P-ENDO-019
Congenital Hyperinsulinism: A Case Report

Setya Puspa Dewi Aprilyani, Stephanie Adelia, Adhie Nur Radityo, Agustini Utari
Department of Child Health, Faculty of Medicine Universitas Diponegoro, Kariadi General Hospital,
Semarang, Central Java, Indonesia
Abstract
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 of neurological defects. Objective To illustrate an infant with CHI. Case 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 no dysmorphic features, no palpitation and sweating. Insulin level at the exact time of
hypoglycemia (13 mg/dL) was normal (11.84 µU/mL). Ketone, growth hormone, and cortisol level were
within normal limits. 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.
Keywords: persistent hypoglycemia; congenital hyperinsulinism; diazoxide

P-ENDO-020
Severe Diabetic Ketoacidosis with Leucocytosis Mimicking Sepsis
in A 4-month-old Baby: A Case Report

1
2
Silmi Kaffah , Rahma Nur Amalisa , Mohd Luthfi B 3
Islamic Hospital of Ibnu Sina, Padang, West Sumatera , General Hospital of Wakai, Tojo Una-Una, Central Sulawesi ,
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2
Departement of Child Health, Faculty of Medicine, Universitas Andalas/Dr. M. Djamil Hospital,
Padang, West Sumatera , Indonesia
3
Abstract
Background Diabetic ketoacidosis (DKA) during infancy is a life-threatening complication of neonatal
diabetes mellitus. It may be easily misdiagnosed because of the rare incidence and the symptoms may mimic
the clinical features of sepsis. Objective To identify the clinical presentations of DKA in infancy. Case A
4-month-old male infant was admitted to the emergency room with severe breathing difficulty and refusal
to drink. The baby was reported to have more than ten times of non-projectile vomiting and six watery
diarrhea in the past 24 hours. The baby’s physical findings: body weight 6.5 kg (±-1 WAZ) and body length
62 cm (±-1 HAZ). The physical examinations: the baby only responded to pain, had sunken fontanel, and
delayed skin turgor. The temperature 40.5°C with no seizure, heart rates 160 bpm and respiratory rates
42 breaths/minute. No diabetes in family history. The laboratory test showed hemoglobin 10,8 g/dL, leucocyte
27,420/mm , platelet 631,000/mm , blood glucose 800 mg/dL, pH of 6.86, pCO 15 mmHg, pO 141 mmHg,
3
3
2
2
bicarbonates 3 mEq/L. Urinalysis test revealed glucose 3+ and ketone 2+. The treatments given were optimal
fluid therapy, insulin infusion with 0.1 units/kg/hr, sodium bicarbonate, antibiotic, and zinc. Conclusion The
clinical features of the infant with leukocytosis might be first guided to sepsis. Whereas in some studies, an
increased leucocyte in response to stress is characteristic of DKA, not an indication of infection. Clinicians
must be cautious in improving screening of NDM in the neonatal period, which prevents the occurrence of
serious metabolic complications in later life.
Keywords: neonatal diabetic ketoacidosis; sepsis

138 KONIKA XVIII Abstract Book