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

Sophia Pillai; Kiran Nandalike; Yelena Kogelman; Radhika Muzumdar; Sophie J. Balk; Raanan Arens

doi:10.5664/jcsm.3374

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

Sophia Pillai, Kiran Nandalike, Yelena Kogelman, Radhika Muzumdar, Sophie J. Balk, Raanan Arens

Pediatrics

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	99-101
Number of pages	3
Journal	Journal of Clinical Sleep Medicine
Volume	10
Issue number	1
DOIs	https://doi.org/10.5664/jcsm.3374
State	Published - 2014

Keywords

Melanocortin 4 receptor (MC4R) deficiency
Monogenic obesity
OSA
Polysomnography

ASJC Scopus subject areas

Pulmonary and Respiratory Medicine
Neurology
Clinical Neurology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.5664/jcsm.3374

Cite this

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AU - Balk, Sophie J.

AU - Arens, Raanan

PY - 2014

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

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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