Putting an end to DEND

This issue contains the first report in the neurologic literature of a potentially catastrophic infantile neurodevelopmental syndrome that, though rare, may turn out to be highly treatable.¹ Shimomura et al. describe a male child, first encountered at 3.5 years of age, with a history of neonatal-onset diabetes mellitus and neonatal seizures that had progressed to infantile spasms, severe developmental delay, and medically refractory epilepsy. Attentive care (round-the-clock hourly glucose monitoring; insulin infusion by subcutaneous pump; multiple antiepileptic drug trials) had proven ineffective. Remarkably, the patient showed a dramatic response to treatment with oral glibenclamide, a sulfonylurea drug most often given to adult patients with noninsulin dependent diabetes. Glucose control improved, allowing discontinuation of insulin. In addition, electrographic signs of seizures and encephalopathy diminished, and neurodevelopmental progress resumed. Evidence from this case and others reported elsewhere² suggests that early recognition and sulfonylurea treatment is essential for this treatment to be effective.

Why did Shimomura et al. choose glibenclamide, and why did an oral agent work after insulin had failed? The authors recognized that their patient had delay, epilepsy, and neonatal …