A term neonate develops hypoglycaemia on day 1 (blood glucose 28 mg/dL) despite being breastfed. On examination, the baby is large for gestational age, has a distended abdomen, and macroglossia. The most likely cause of hypoglycaemia in this neonate is:
- A Beckwith-Wiedemann syndrome with hyperinsulinism ✓
- B Maternal gestational diabetes mellitus
- C Congenital adrenal hyperplasia
- D Glycogen storage disease type I
Correct answer: A. Beckwith-Wiedemann syndrome with hyperinsulinism
Explanation
The triad of macroglossia, omphalocele/abdominal distension, and large-for-gestational-age in a neonate with hypoglycaemia strongly suggests Beckwith-Wiedemann syndrome (BWS), caused by imprinting defects at chromosome 11p15.5 (IGF2/H19 locus) resulting in hyperinsulinism. While maternal GDM also causes transient hyperinsulinaemic hypoglycaemia, it does not explain macroglossia or abdominal wall defects. GSD type I presents later in infancy, not on day 1.
Reference: Ghai Essential Pediatrics, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.