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Rare disease
CASE REPORT
Young girl with severe early-onset obesity and hyperphagia
  1. Lotte Kleinendorst1,
  2. Mieke M van Haelst1,2,
  3. Erica L T van den Akker3
  1. 1Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
  2. 2Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
  3. 3Pediatric Endocrinology - Obesity Center CGG, Erasmus MC Sophia Children’s Hospital, Rotterdam, The Netherlands
  1. Correspondence to Dr Mieke M van Haelst, m.vanhaelst{at}vumc.nl

Summary

This case report of an infant with severe early-onset obesity illustrates the societal condemnation of persons with obesity. In addition, it underlines the importance of diagnosing rare forms of monogenic obesity, even if no drug treatment is available. Here, we describe a 2-year-old girl with severe progressive obesity from birth onwards due to insatiable hunger. Genetic studies eventually reveal that the girl has a monogenic form of obesity caused by two mutations in the LEPR gene. No drug treatment is available (as yet) for this disease. Parents describe the stigmatic remarks they have to deal with every day. Diagnosing this rare genetic disorder was very important for understanding that satiety regulation is a complex system, of which willpower is only a small portion. In these patients, reduction of obesity can be achieved, but a different approach to lifestyle intervention is needed.

  • endocrinology
  • genetics
  • obesity (nutrition)
  • obesity (public Health)
  • childhood nutrition (paediatrics)

https://doi.org/10.1136/bcr-2017-221067

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    Footnotes

    • Contributors All authors approve the version to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.Detailed contributions:. 1. LK: main author, drafted the case report, collected the data of the patient, worked on the interpretation of the test results, communicated with the parents about the case report and searched for and selected the relevant literature and guidelines. 2. MH: clinical genetics counselling of the patient and parents, designed and developed the genetic test, analysis of the genetic test result, language editing and revising of the work for important intellectual content. ELTvdA: cared for the patient, collected data about the patient, interpretations of the endocrine lab results, assistance selecting literature and guidelines, writing assistance and revising of the work for important intellectual content.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.