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Italian Journal of Pediatrics
Published in: Italian Journal of Pediatrics 1/2011

Open Access 01-12-2011 | Case report

18q deletion in a cystic fibrosis infant, increased morbidity and challenge for correct treatment choices: a case report

Authors: Elide Spinelli, Silviana Timpano, Annalisa Fogazzi, Silvia Dester, Susanna Milianti, Rita Padoan

Published in: Italian Journal of Pediatrics | Issue 1/2011

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Abstract

Cystic Fibrosis (CF) is the most frequent recessive disease of Caucasian patients. Association with other diseases or syndromes has previously been reported. Co-morbidity may be a challenge for clinicians, who have to face more severe problems.
We have described a CF infant, F508del homozygote, diagnosed by neonatal screening, who also had a chromosome 18q terminal deletion [del (18)(q22-qter)]. Some clinical features of the 18q deletion: e.g., cardiopathy, gastro-oesophageal reflux and severe muscular hypotonia, worsened the CF clinical picture and his quality of life, with repeated pulmonary exacerbations and failure to thrive in the first six months of life. The treatment strategy was chosen following an accurate multi-disciplinary team study of overlapping chromosome syndrome and CF symptoms. The use of a gastrostomy device for enteral nutrition together with a new device (Ez-PAP) for chest physiotherapy led to normal growth, a notably reduced hospitalization rate and improved quality of life.
This case shows how co-morbidities worsening the clinical course of a "complicated patient" can be faced thanks to unconventional therapies that represent a challenge for clinicians.
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Metadata
Title
18q deletion in a cystic fibrosis infant, increased morbidity and challenge for correct treatment choices: a case report
Authors
Elide Spinelli
Silviana Timpano
Annalisa Fogazzi
Silvia Dester
Susanna Milianti
Rita Padoan
Publication date
01-12-2011
Publisher
BioMed Central
Published in
Italian Journal of Pediatrics / Issue 1/2011
Electronic ISSN: 1824-7288
DOI
https://doi.org/10.1186/1824-7288-37-22

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