Case Report of Pediatric Channelopathies With UNC80 and KCNJ11 Mutations Having Abnormal Respiratory Control Treated With Positive Airway Pressure Therapy

We describe an 8-year-old male with a pathogenicUNC80 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 aKCNJ11 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 withUNC80 andKCNJ11 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.Citation:Hong H, Kamerman-Kretzmer R, Kato R, Rosser T, VanHirtum-Das M, Davidson Ward SL. Case report of pediatric channelopathies withUNC80 andKCNJ11 mutations having abnormal respiratory control treated with positive airway pressure therapy.J Clin Sleep Med. 2018;14(8):1419–1425.
Source: Journal of Clinical Sleep Medicine : JCSM - Category: Sleep Medicine Source Type: research