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Highlights from the literature

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Lucina once diagnosed an H type fistula in a 14?year of girl with ‘poorly controlled asthma’. The clue was in the history. The great things about practicing general paediatrics is that among all the common symptoms, the rare diagnoses hide. Lucy and Scarlett Bolt describe their personal experience of finally getting a diagnosis of primary ciliary dyskinesia at the age of 8 years old [Breathe 2020 16: 200116; DOI: 10.1183/20734735.0116–2020]. Scarlett’s history was a textbook history for a child with this rare diagnosis. The history was there at every consultation but was missed. Eventually the dots were joined up and once the diagnosis was made, her life and that of the family changed for the better. This is a really fascinating read and should remind us all - take a careful and informed history. Parents often tell me that their child has had respiratory symptoms all their life. Detailed neonatal history can identify those who developed on-going symptoms following a bronchiolitis illness in infancy and those who have truly had symptoms from birth.
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