Case Report of Pediatric Channelopathies With UNC80 and KCNJ11 Mutations Having Abnormal Respiratory Control Treated With Positive Airway Pressure Therapy
There have been no published reports of central respiratory control abnormalities in pediatric patients with UNC80 or KCNJ11 mutations which cause neurologic channelopathies. We describe an 8-year-old male with a pathogenic UNC80 mutation, intellectual disability, hypotonia and epilepsy with severe central sleep apnea (213.5 events/h) on polysomnography (PSG). We also describe a 20-month-old female with a KCNJ11 mutation, neonatal diabetes and developmental delay who had severe central sleep apnea (131.1 events/h). Both patients had irregular respiratory patterns during sleep and wakefulness and were placed on empiric bilevel positive airway pressure therapy, which was well tolerated with resolution of abnormal respiratory control and hypercapnia. Patients with UNC80 and KCNJ11 gene mutations may have abnormal respiratory rhythm during sleep and wakefulness, mirroring animal models. We recommend routine PSG tests and further investigation into the respiratory control of patients with pediatric channelopathies involved in chemoreceptor function or central integration of respiratory control.
Hong H, Kamerman-Kretzmer R, Kato R, Rosser T, VanHirtum-Das M, Davidson Ward SL. Case report of pediatric channelopathies with UNC80 and KCNJ11 mutations having abnormal respiratory control treated with positive airway pressure therapy. J Clin Sleep Med. 2018;14(8):1419–1425.
Please login to continue reading the full article
Subscribers to JCSM get full access to current and past issues of the JCSM.
Login to JCSM
Not a subscriber?
Join the American Academy of Sleep Medicine and receive a subscription to JCSM with your membership
Subscribe to JCSM:
$75/volume year for individuals or $140/volume year for institutions to access all current articles and archives published in JCSM.
Download this article*:
$20 to access a PDF version of a specific article from the current issue of JCSM.
*Purchase of an electronic download of JCSM provides permission to access and print the issue/article for personal scholarly, research and educational use. Please note: access to the article is from the computer on which the article is purchased ONLY. Purchase of the article does not permit distribution, electronic or otherwise, of the article without the written permission of the AASM. Further, purchase does not permit the posting of article text on an online forum or website.