Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.
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.
Bahi-Buisson
Nadia
N
Department of Paediatric Neurology and Metabolic Disease, Hôpital Necker Enfants Malades, Paris, France. nadia.bahi-buisson@nck.ap-hop-paris.fr
Eisermann
Monica
M
Nivot
Sylvie
S
Bellanné-Chantelot
Christine
C
Dulac
Olivier
O
Bach
Nathalie
N
Plouin
Perrine
P
Chiron
Catherine
C
de Lonlay
Pascale
P
D000927:Anticonvulsants / Q000627:therapeutic use; D001923:Brain Chemistry / Q000235:genetics*; D001928:Brain Diseases, Metabolic / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007223:Infant; D009154:Mutation / Q000235:genetics*; D011015:Pneumonia, Aspiration / Q000209:etiology; D026902:Potassium Channel Blockers / Q000627:therapeutic use; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D013036:Spasms, Infantile / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D013256:Steroids / Q000627:therapeutic use; D013453:Sulfonylurea Compounds / Q000627:therapeutic use; D013577:Syndrome; D016896:Treatment Outcome; D000099161:Kcnj11 Channel
D000927:Anticonvulsants; D007004:Hypoglycemic Agents; D026902:Potassium Channel Blockers; D024661:Potassium Channels, Inwardly Rectifying; D013256:Steroids; D013453:Sulfonylurea Compounds; D000099161:Kcnj11 Channel