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Unusual breathing in a 7 year old

BMJ 2012; 344 doi: http://dx.doi.org/10.1136/bmj.e3022 (Published 09 May 2012) Cite this as: BMJ 2012;344:e3022
  1. F Abel, clinical fellow in respiratory medicine1,
  2. D Kilner, consultant, respiratory paediatrics1,
  3. S Sonnappa, consultant, respiratory paediatrics12
  1. 1Great Ormond Street Hospital for Children, London WC1N 3JH, UK
  2. 2UCL Institute of Child Health, London, UK
  1. Correspondence to: F Abel frantoop{at}gmail.com

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).

Fig 1 Cardiorespiratory sleep study

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