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Case Reports
. 2022 Mar 22;15(3):e247513.
doi: 10.1136/bcr-2021-247513.

High energy expenditure in a patient with feeding problems and Noonan syndrome spectrum disorder

Dagmar Tiemens  1 , Annemiek van Wegberg  2 , Debbie van Druten  3 , Jos Draaisma  4
Affiliations
Case Reports

High energy expenditure in a patient with feeding problems and Noonan syndrome spectrum disorder

Dagmar Tiemens et al. BMJ Case Rep. .

Abstract

Feeding problems are present in more than 50% of patients with a Noonan syndrome spectrum disorder in the first years of life. Food intake problems like severe or frequently vomiting may not only affect growth and development, but may also influence the process of learning how to eat and can have a great impact on the whole family. In addition to food intake problems, there is growing evidence that patients with a Noonan syndrome spectrum disorder may have a lower body mass index (BMI) due to a high energy expenditure, although little is known about the actual energy intake patients with a Noonan syndrome spectrum disorder need to maintain a healthy BMI. This article illustrates the challenge to recognise a high energy expenditure especially when a patient frequently vomits. Multidisciplinary attention is needed to manage food intake, vomiting and energy expenditure problems in patients with a Noonan syndrome spectrum disorder.

Keywords: Gastro-oesophageal reflux; Genetics; Healthcare improvement and patient safety; Paediatrics (drugs and medicines); Stomach and duodenum.

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Conflict of interest statement

Competing interests: None declared.

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