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Volume 10 No. 01
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Accepted Papers

Case Reports

Severe Obstructive Sleep Apnea in a Child with Melanocortin-4 Receptor Deficiency

Sophia Pillai, M.D.1; Kiran Nandalike, M.D.1; Yelena Kogelman, M.D.2; Radhika Muzumdar, M.D.2; Sophie J. Balk, M.D.3; Raanan Arens, M.D.1
1Divisions of Respiratory and Sleep Medicine; 2Endocrinology; 3General Pediatrics, Department of Pediatrics, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY

Obstructive sleep apnea (OSA) is a highly prevalent medical condition in obese children and is associated with significant neurocognitive, cardiovascular and metabolic derangements. Monogenic forms of obesity resulting from disruption of the leptin-melanocortin pathways have become more notable in recent years and distinguish between various obese phenotypes. However, the association of such disorders with OSA is not well established in children or adults. In this report, we describe a 23-month-old female with morbid obesity and OSA, who was found to carry a defect in the melanocortin-4 receptor (MC4R) pathway. This report emphasizes the genetic basis of obesity related to MC4R deficiency and OSA in children.


Pillai S; Nandalike K; Kogelman Y; Muzumdar R; Balk SJ; Arens R. Severe obstructive sleep apnea in a child with melanocortin-4 receptor deficiency. J Clin Sleep Med 2014;10(1):99-101.

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