Neonatal diabetes with intractable epilepsy: DEND syndrome.
Indian J Pediatr
; 81(12): 1387-8, 2014 Dec.
Article
em En
| MEDLINE
| ID: mdl-24912436
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Compostos de Sulfonilureia
/
Canais de Potássio Corretores do Fluxo de Internalização
/
Diabetes Mellitus
/
Epilepsia Resistente a Medicamentos
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article