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Severe obstructive sleep apnea in a child with melanocortin-4 receptor deficiency

Sophia Pillai1, Kiran Nandalike1, Yelena Kogelman2

  • 1Divisions of Respiratory and Sleep Medicine.

Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|January 16, 2014
PubMed

Insights

Obstructive sleep apnea (OSA) is common in obese children. This study highlights a genetic link between MC4R pathway defects, obesity, and OSA in a young child.

Area of Science:

  • Pediatric Endocrinology
  • Sleep Medicine
  • Genetics

Background:

  • Obstructive sleep apnea (OSA) is prevalent in obese children, linked to neurocognitive, cardiovascular, and metabolic issues.
  • Monogenic obesity forms, particularly those affecting the leptin-melanocortin pathways, are increasingly recognized.
  • The connection between these specific genetic obesity disorders and OSA in pediatric populations remains unclear.

Purpose of the Study:

  • To investigate the association between melanocortin-4 receptor (MC4R) pathway defects and obstructive sleep apnea (OSA) in a child with morbid obesity.
  • To emphasize the genetic underpinnings of MC4R deficiency-related obesity and its co-occurrence with OSA in pediatric cases.

Main Methods:

  • Case report of a 23-month-old female with morbid obesity and OSA.
  • Genetic analysis to identify defects in the melanocortin-4 receptor (MC4R) pathway.

Main Results:

  • The patient was diagnosed with morbid obesity and OSA.
  • A defect in the melanocortin-4 receptor (MC4R) pathway was identified in the patient.
  • This case suggests a potential genetic link between MC4R pathway dysfunction and OSA in childhood obesity.

Conclusions:

  • MC4R pathway defects can contribute to morbid obesity and OSA in children.
  • This case underscores the importance of genetic evaluation in pediatric obesity with comorbidities like OSA.
  • Further research is needed to establish the broader association between MC4R pathway disorders and OSA.

Keywords:
Melanocortin 4 receptor (MC4R) deficiencyOSAmonogenic obesitypolysomnography

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