Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr)

Abstract

BackgroundIn term newborns meconium ileus is frequently associated with cystic fibrosis. Reports on meconium ileus in preterm infants being diagnosed with cystic fibrosis early after birth are very scarce. Associations between genotype and phenotype in cystic fibrosis and its particular comorbidities have been reported.Case presentationTwo extremely preterm twin infants (26 weeks of gestation) born from a Malaysian mother and a Caucasian father were presented with typical signs of meconium ileus. Despite immediate surgery both displayed a unique and finally lethal course. Mutation analysis revealed a novel, probably pathogenic cystic fibrosis mutation, p.Cys524Tyr. The novel mutation might explain the severity of disease next to typical sequelae of prematurity.ConclusionPreterm neonates with meconium ileus have to be evaluated for cystic fibrosis beyond ethnical boundaries, but may take devastating clinical courses despite early treatment. The novel, potentially pathogenic CF mutation p.Cys524Tyr might be associated with severe meconium ileus in neonates. Disease-modifying loci are important targets for intestinal comorbidity of cystic fibrosis.

Actual Body Weight and the Parent’s Perspective of Child’s Body Weight among Rural Canadian Children

“…Studies have shown that BMI categories correlate with body fat and health risks [ 55 , 56 ]. Factors such as age, sex, ethnicity, height and level of sexual maturation can influence the relationship between BMI and body fat among children [ 57 , 58 , 59 ] and with the exception of level of sexual maturation, were considered in this study.…”

Extensive Myocardial Infarction in a Fetus With Cystic Fibrosis and Meconium Peritonitis

“…Furthermore, the early diagnosis of meconium ileus in neonates may be of benefit, with lower morbidity and increased survival 3 . Nevertheless, a lethal course in preterm infants has been described 4 …”