Neonatal Diabetes with Intractable Epilepsy: DEND Syndrome

作者：Singh Poonam^*; Rao Sudha Chandrashekhar; Parikh Ruchi

来源：Indian Journal of Pediatrics, 2014, 81(12): 1387-1388.

DOI：10.1007/s12098-014-1486-4

• Permanent Neonatal Diabetes Mellitus (PNDM)
• KATP channel
• Developmental Delay
• Epilepsy and Neonatal Diabetes Syndrome (DEND)

Permanent Neonatal Diabetes Mellitus (PNDM), is a rare monogenic disorder, caused by activating mutations of the KATP channel. The most severe clinical form of PNDM presents as Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome. Diagnosis is confirmed by genetic mutation testing. Oral sulfonylurea therapy improves neurological outcome.

• 出版日期2014-12