Main Article Content

Anisah Nabhani Azizan Zatul Rathiah Abdul Razak Hafidahwati Hamad

Abstract

Introduction


Neonatal diabetes mellitus (congenital diabetes or diabetes of infancy) is a form of monogenic diabetes that manifests during the first 6 months of life. It is a rare form of diabetes, which is estimated to occur in 1 over 20,000 to 500,000 live births.


Case presentation


A 54-day-old infant was referred with the diagnosis of severe bronchopneumonia and presumed meningitis. The patient came in shock and was given a total of 20 ml/kg boluses and transported with 7.5% fluid correction. Despite treatment, her fontanelle was sunken and her skin was mottled with capillary refill time of 4 seconds as well as poor skin turgor. The blood pressure was within range. Her respiratory rate was 40 breaths/min with subcostal and intercostal recession. A sweet fruity breath smell was spotted. It was noted that the random blood sugar (RBS) was 41 mmol/l. She was in severe metabolic acidosis with a pH of 6.818, HCO3- of 5 mmol/l, and lactate of 1.8 mmol/l. pCO2 and pO2 were 26.8 and 56.9 kPa respectively. As suspected, her capillary ketone was 4.3 mmol/l. She was treated with shock and DKA as per protocol.


Discussion


NDM can be categorised into transient, permanent and syndromic according to the phenotypic characteristics. Patient may present insidiously, acutely or incidentally without clear symptoms. The most common reported presentations were polyuria, tachypnoea, flu-like symptoms, lethargy, dehydration, and “not acting right”. The chances of presenting with diabetic ketoacidosis increases with age. 66.2% of patient with monogenic diabetes presented with DKA due to the challenges in recognising the symptoms.


 


In conclusion, NDM is rare but with life-threatening complication of diabetic ketoacidosis  that requires a high degree of suspicion especially in neonates.

Metrics

Metrics Loading ...

Article Details

Section
EMAS Meeting 2019 Abtracts