- F Abel, clinical fellow in respiratory medicine1,
- D Kilner, consultant, respiratory paediatrics1,
- S Sonnappa, consultant, respiratory paediatrics12
- 1Great Ormond Street Hospital for Children, London WC1N 3JH, UK
- 2UCL Institute of Child Health, London, UK
- Correspondence to: F Abel
A 7 year old girl was referred for a sleep study after her parents noticed unusual breathing while she slept. Her breathing was described as slow with many pauses.
After a normal term delivery, she was diagnosed with truncus arteriosus associated with a large ventricular septal defect. Both were surgically repaired at age 1 month, with uneventful postoperative recovery and normal subsequent cardiac function.
She had no overt dysmorphic features. She was nasogastrically fed from age 7 months for failure to thrive after feeding difficulties, then via a gastrostomy from age 2.5 years until 4 years. A clinical diagnosis of DiGeorge syndrome was confirmed by detection of a 22q11.2 deletion on genetic analysis.
By age 6 years, she was fully orally fed and swallow assessment was normal.
She remained clinically well until age 7 years, when the unusual breathing started. A history of choking on food and drinks, difficulty coping with oral secretions, and frequent drooling was elicited from her parents.
Clinical examination was normal. A videofluoroscopic swallow assessment showed obvious aspiration.
A cardiorespiratory sleep study was performed and the following summary was obtained (fig 1⇓).
1 What does …