Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome

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Arina Bingeliene1, Colin M Shapiro1, Sharon A Chung2

  • 1Department of Psychiatry, Faculty of Medicine, University of Toronto, Canada ; Toronto Western Hospital, University Health Network, 399 Bathurst Street, 7 Main, Room 422, Toronto, ON, Canada M5T 2S8 ; Sleep Research Laboratory, Toronto Western Hospital, 399 Bathurst Street, 7 Main, Room 422, Toronto, ON, Canada M5T 2S8.

Case Reports in Neurological Medicine
|November 28, 2015
PubMed

Insights

Prader-Willi syndrome (PWS), a genomic imprinting disorder, can be inherited. This case study highlights three siblings with PWS, emphasizing the critical role of multidisciplinary care and sleep management in improving patient outcomes.

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Prader-Willi syndrome (PWS) is a complex genetic disorder affecting multiple body systems.
  • Characterized by hypotonia, intellectual disability, hyperphagia, and endocrine dysfunction.
  • PWS is the first identified human disorder linked to genomic imprinting.

Purpose of the Study:

  • To report a unique case of three siblings diagnosed with Prader-Willi syndrome.
  • To highlight the significance of inherited genetic mechanisms in PWS.
  • To emphasize the impact of sleep disturbances and multidisciplinary care in PWS management.

Main Methods:

  • Case report detailing three siblings with PWS.
  • Review of literature focusing on sleep-related issues in PWS.
  • Analysis of the impact of medical interventions and parental care.

Main Results:

  • All three siblings presented with sleep-related complaints.
  • One sibling died due to obstructive sleep apnea at age 24.
  • Brothers experienced positive outcomes with tailored medical care and recommendations.
  • The case illustrates a rare inherited form of PWS.

Conclusions:

  • Inherited PWS, though rare, can occur within families.
  • Effective management of PWS requires a multidisciplinary approach.
  • Addressing sleep disturbances is crucial for improving quality of life and prognosis in PWS patients.

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