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Infantile Spasms as an Epileptic Feature of DEND Syndrome Associated With an Activating Mutation in the Potassium Adenosine Triphosphate (ATP) Channel, Kir6.2

Department of Paediatric Neurology and Metabolic Disease, Hôpital Necker Enfants Malades, Paris, France, Inserm, Paris, France, University Rene Descartes, Paris, France, nadia.bahi-buisson{at}nck.ap-hop-paris.fr

Monica Eisermann, MD

Neurophysiology Unit, Hôpital Necker Enfants Malades, Paris, France

Sylvie Nivot, MD

Department of Pediatry, Hôpital de Caen

Christine Bellanné-Chantelot, MD, PhD

Department of Molecular Biology, Hôpital Saint Antoine, Paris, France

Olivier Dulac, MD

Department of Paediatric Neurology and Metabolic Disease, Hôpital Necker Enfants Malades, Paris, France, Inserm, Paris, France, University Rene Descartes, Paris, France

Nathalie Bach, MD

Department of Pediatry, Hôpital de Caen

Perrine Plouin, MD

Catherine Chiron, MD, PhD

Department of Paediatric Neurology and Metabolic Disease, Hôpital Necker Enfants Malades, Paris, France, Inserm, Paris, France, University Rene Descartes, Paris, France

Pascale de Lonlay, MD, PhD

Department of Paediatric Neurology and Metabolic Disease, Hôpital Necker Enfants Malades, Paris, France

Activating mutations in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium (KATP) channel is a cause of neonatal diabetes associated with various neurological disorders that include developmental delay, epilepsy, and neonatal diabetes (known together as DEND syndrome). This article reports a girl who developed infantile spasms and early onset diabetes mellitus at the age of 3 months and revealed DEND syndrome with a heterozygous activating mutation in Kir6.2. Infantile spasms with hypsarrhythmia on the electroencephalogram were severe and refractory to steroids. Steroids combined with oral sulfonylurea, a drug that closes the ATP-sensitive potassium channel by an independent mechanism, allowed partial and transitory control of the epilepsy. However, the child still exhibited severe encephalopathy and died of aspiration pneumonia. The role of oral sulfonylurea as an anticonvulsant in DEND syndrome associated with Kir6.2 mutation is discussed.

Key Words: infantile spasms • neonatal diabetes • ATP-sensitive potassium channel

Journal of Child Neurology, Vol. 22, No. 9, 1147-1150 (2007)
DOI: 10.1177/0883073807306272


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