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It is necessary and important to reassess and re-evaluate diagnoses throughout childhood, particularly when the symptoms and findings no longer fit, and to remain open minded about possible alternative diagnoses.
As this a rapidly evolving field, our ability to test for newly recognised genetic associations should be matched by a curiosity to consider interstitial lung disease in children presenting with persisting respiratory abnormalities, even if such diagnoses are rare or seem unlikely, later in life. Perhaps we could remember childhood interstitial lung disease (chILD) as childhood improbable late diagnoses.
Telomere disorders have implications for the wider family and careful exploration of family history and referral for genetic counselling is essential for both the young person and their relatives.
A 16-year-old boy with persisting fixed obstructive spirometry is approaching transition to adult services. He has been under long-term follow-up, initially referred aged 2 months by his local team for tachypnoea and mild respiratory distress since birth. He was born at term by vaginal delivery with meconium suctioned from his oropharynx and admitted to a special care baby unit for observation and intravenous antibiotics. Chest X-ray (CXR) at birth was reportedly consistent with possible meconium aspiration, although there was no neonatal resuscitation or ventilation required and he was discharged home after 4 days without an oxygen requirement.
Flexible bronchoscopy was arranged that was unremarkable, there was no evidence of aspiration or infection, he had a negative congenital infection screen and normal echocardiogram. CT chest showed linear atelectasis, occasional thickened interlobular septa and areas of secondary pulmonary lobular hyperinflation. Neither bronchopulmonary dysplasia (BPD) nor meconium aspiration syndrome really fits his neonatal history or imaging appearance. He was well in himself and so was discharged with a plan for regular outpatient review. Follow-up CT chest age 3 years (figure 1A) demonstrated persistent abnormality with an …
Contributors Manuscript written by SS, all patient results and reports prepared and collated by SS and RP, all images arranged and reported on by TS. Additionally, all three authors have made significant contribution to the planning, direction and editing of this manuscript and each has approved this final version.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
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