Early diagnosis of Canavan syndrome: how can we get there?
BMJ Case Rep
; 20152015 Aug 05.
Article
em En
| MEDLINE
| ID: mdl-26245283
ABSTRACT
Canavan syndrome is a rare genetic disorder characterised by progressive severe leukodystrophy involving the degeneration of white matter. Currently, there is no effective therapy, but after recent studies using early gene therapy, the outcome has appeared to improve. It is of fundamental importance to recognise signs of neonatal Canavan syndrome early on. We describe a case of neonatal Canavan syndrome in which diagnosis was made only at the fourth month of age.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ácido Aspártico
/
Doença de Canavan
/
Diagnóstico Precoce
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Humans
/
Infant
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article