title: Severe obstructive sleep apnea in a child with melanocortin-4 receptor deficiency.
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.
authors.affiliation: Divisions of Respiratory and Sleep Medicine.
authors.forename: Sophia
authors.initials: S
authors.lastname: Pillai
authors.affiliation: Divisions of Respiratory and Sleep Medicine.
authors.forename: Kiran
authors.initials: K
authors.lastname: Nandalike
authors.affiliation: Endocrinology.
authors.forename: Yelena
authors.initials: Y
authors.lastname: Kogelman
authors.affiliation: Endocrinology.
authors.forename: Radhika
authors.initials: R
authors.lastname: Muzumdar
authors.affiliation: General Pediatrics, Department of Pediatrics, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY.
authors.forename: Sophie J
authors.initials: SJ
authors.lastname: Balk
authors.affiliation: Divisions of Respiratory and Sleep Medicine.
authors.forename: Raanan
authors.initials: R
authors.lastname: Arens
mesh_terms: D015992:Body Mass Index; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics; D009767:Obesity, Morbid / Q000150:complications* / Q000235:genetics; D017286:Polysomnography / Q000379:methods; D044105:Receptor, Melanocortin, Type 4 / Q000172:deficiency* / Q000235:genetics; D012307:Risk Factors; D020181:Sleep Apnea, Obstructive / Q000150:complications* / Q000235:genetics
chemical_list: D044105:Receptor, Melanocortin, Type 4
keywords: Melanocortin 4 receptor (MC4R) deficiency; OSA; monogenic obesity; polysomnography