Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant
 
Este local é para usuários registrados apenas.
Por favor faça seu login ou registre-se.

Descrição

Congenital central hypoventilation syndrome (CCHS), a rare disorder typically presenting in the newborn period, results in over 90% of cases from PHOX2B polyalanine repeat mutations. It is characterized by alveolar hypoventilation, symptoms of autonomic nervous system dysregulation, and in a subset of cases Hirschsprung’s disease and, later, tumors of neural crest origin. We describe a preterm infant with severe phenotype of CCHS and hyperinsulinism. A novel de novo heterozygote missence mutation (Gly68Cys) in the PHOX2B gene could be identified. Based on the observation of three patients presenting with the combination of congenital hyperinsulinism and CCHS, hyperinsulinism might represent an additional clinical feature of CCHS.

Enviado por:

Emanuel Santana (Emanuel)

Enviado em:

22 Jan 2010

Tamanho do Arquivo:

219.71 Kb

Downloads:

2

Data do arquivo:

22 Jan 2010

Nota:

Total de Votos:0

Seja o primeiro a comentar. Por favor faça seu login ou registre-se!