KCNJ11 and congenital isolated hyperinsulinism: However, its accuracy is imperfect and needs recognition in individual case management.<h4>Case presentation</h4>We report the case of an infant with hypoglycaemia due to CHI and a paternally inherited <i>KCNJ11</i> mutation, c.286G > A (p.Ala96Thr), leading to a high probability of focal CHI.