Pediatr. praxi. 2023;24(3):175-178 | DOI: 10.36290/ped.2023.051

Prader-Willi syndrome: a case report

MUDr. Olga Magnová
Pediatrická klinika, FN Brno

Prader-Willi syndrome is a dangerous genetic multisystem disorder. It's typical symptoms include facial dysmorphia, muscle weakness, growth and eating disorders (failure-to-thrive followed by polyphagia and obesity). We are presenting three case histories of children with Prader-Willi syndrome. Two of them have been diagnosed after the second year of life, with differing impact on their health. Early diagnosis in the third case history didn't eliminate development of extreme obesity leading to serious morbidity. The aim of the article is to bring attention to importance of early diagnosis and initiation of complex treatment of this condition, including growth hormone therapy that can singificantly affect the clinical condition of patients.

Keywords: Prader-Willi syndrome, obesity, growth hormone.

Accepted: June 8, 2023; Published: June 15, 2023  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Magnová O. Prader-Willi syndrome: a case report. Pediatr. praxi. 2023;24(3):175-178. doi: 10.36290/ped.2023.051.
Download citation

References

  1. Butler MG. Prader-Willi syndrome: Currentunderstandingof cause and diagnosis. Am J Med Genet. 1990;35:319-332. Go to original source... Go to PubMed...
  2. Holm VA, Cassidy SB, Butler MG, et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics. 1993;91(2): 398-402. Go to original source... Go to PubMed...
  3. Muscogiuri G, Barrea L, Faggiano F, et al. RESTARE. Obesity in Prader-Willi syndrome: physiopathological mechanisms, nutritional and pharmacological approaches. J Endocrinol Invest. 2021;44(10):2057-2070. Go to original source... Go to PubMed...
  4. Deal CL, Tony M, Höybye C, et al. 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants. Growth Hormone Research Society workshop summary: consensus guidelines forre combinant human growth hormone therapy in Prader-Willi syndrome. J Clin Endocrinol Metab. 2013;98(6):E1072-1087. doi: 10.1210/jc.2012-3888. Epub 2013 Mar 29. PMID: 23543664; PMCID: PMC3789886. Go to original source... Go to PubMed...
  5. Kodytková A, El Lababidi Em, Čermáková I, et al. Early-onset growth hormone treatment in Prader-Willi syndrome attenuates the risk of transition to severe obesity. ESPE Abstracts. 2021;94:P2-309.




Pediatrics for Practice

Madam, Sir,
please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

I declare:

  1. that I have met the above instruction
  2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited


No

Yes

If your statement is not true, please be aware
that brings the risk of danger to their health or the health of others.