title: 18q deletion in a cystic fibrosis infant, increased morbidity and challenge for correct treatment choices: a case report.
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.
authors.affiliation: Centro Regionale di Supporto per la Fibrosi Cistica, Ospedale dei Bambini, AO Spedali Civili, Brescia, Italy.
authors.forename: Elide
authors.initials: E
authors.lastname: Spinelli
authors.forename: Silviana
authors.initials: S
authors.lastname: Timpano
authors.forename: Annalisa
authors.initials: A
authors.lastname: Fogazzi
authors.forename: Silvia
authors.initials: S
authors.lastname: Dester
authors.forename: Susanna
authors.initials: S
authors.lastname: Milianti
authors.forename: Rita
authors.initials: R
authors.lastname: Padoan
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D004232:Diuretics / Q000627:therapeutic use; D005500:Follow-Up Studies; D005665:Furosemide / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D009017:Morbidity / Q000639:trends; D010102:Oxygen Inhalation Therapy / Q000379:methods*; D010184:Pancreatic Extracts / Q000008:administration & dosage*
chemical_list: D004232:Diuretics; D010184:Pancreatic Extracts; D005665:Furosemide