RESUMO
Glucose-galactose malabsorption (GGM) is an autosomal recessive disease caused by mutations in the Na(+)/glucose cotransporter gene SLC5A1 (OMIM 182380, phenotype number 606824). Patients with GGM present with neonatal onset of severe life-threatening diarrhoea and dehydration. We describe a 5-day-old girl with the typical clinical course of GGM. Our clinical diagnosis was confirmed by an abnormal chromatography of the stool and normal small bowel biopsies. Mutation analysis revealed a novel, homozygous deletion within exon 10 of the SLC5A1 gene, i.e. c.1107_1109 del AGT.
Assuntos
Sequência de Bases , Galactose/metabolismo , Glucose/metabolismo , Síndromes de Malabsorção/genética , Deleção de Sequência , Transportador 1 de Glucose-Sódio/genética , Feminino , Marcadores Genéticos , Homozigoto , Humanos , Recém-Nascido , Síndromes de Malabsorção/diagnóstico , Síndromes de Malabsorção/metabolismoRESUMO
A case report of a newborn with sepsis due to nontypable H.Influenzae biotype IV is presented. There were no prematurity nor maternal obstetrical complications involved. The child however suffered from severe respiratory distress. With the aspiration of secretions, the resuscitation with mask oxygen and the empirically started combination of ampicillin and cefotaxime, his condition rapidly improved.
