, Volume 54, Issue 2, pp 469-471,
Open Access This content is freely available online to anyone, anywhere at any time.
Date: 26 Nov 2010

Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation

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To the Editor: Permanent neonatal diabetes mellitus (PNDM) is mainly caused by activating mutations in the KCNJ11 or ABCC8 genes, encoding respectively the Kir6.2 and sulfonylurea receptor (SUR)1 subunits of the KATP channels in the pancreatic beta cells [13]. Developmental delay, epilepsy and neonatal diabetes syndrome (DEND) represents the most severe clinical form of PNDM [4]. Besides diabetes mellitus patients exhibit severe developmental delay, hypotonia and therapy-resistant epilepsy. As KCNJ11 and ABCC8 are expressed in neuronal tissue the neurological features in DEND syndrome are postulated to result from mutated KATP channels in the brain. Only a few cases of DEND syndrome have been described. More common is a milder clinical picture, without generalised epilepsy and with less severe developmental delay, referred to as intermediate DEND.

Since 2006 many patients with PNDM due to KCNJ11 and ABCC8 mutations have been completely transferred from insulin to sulfonylurea drugs [5,