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http://dx.doi.org/10.14401/KASMED.2020.27.2.77

Severe Obstructive Sleep Apnea in a 7-Year-Boy with Achondroplasia : A Case Report  

Hwang, Jeongju (Department of Pediatrics, Dankook University Hospital, Dankook University College of Medicine)
Seo, Ju-Hee (Department of Pediatrics, Dankook University Hospital, Dankook University College of Medicine)
Publication Information
Sleep Medicine and Psychophysiology / v.27, no.2, 2020 , pp. 77-81 More about this Journal
Abstract
Obstructive sleep apnea (OSA) is a sleep-related breathing disorder in which narrowing and obstruction of the upper airway lead to frequent arousal and decreased arterial oxygenation during sleep. OSA is more common in children with genetic disorders like achondroplasia compared to children without genetic disorders. Achondroplasia is genetic disorder characterized by hypoplasia of the facial bone and skull base with foramen magnum stenosis, resulting in exceedingly high frequency of OSA. The authors present a case of a patient with achondroplasia diagnosed with severe OSA through polysomnography after adenectomy showed little therapeutic effect and who was treated with continuous positive airway pressure.
Keywords
Achondroplasia; Continuous positive airway pressure; Obstructive sleep apnea; Polysomnography;
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1 Aviezer D, Golembo M, Yayon A. Fibroblast growth factor receptor-3 as a therapeutic target for achondroplasia-Genetic short limbed dwarfism. Curr Drug Targets 2003;4:353-365.   DOI
2 Blechner M, Williamson AA. Consequences of obstructive sleep apnea in children. Curr Probl Pediatr Adolesc Health Care 2016; 46:19-26.   DOI
3 Julliand S, Boule M, Baujat G, Ramirez A, Couloigner V, Beydon N, et al. Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia. Am J Med Genet A 2012;158:1987-1993.
4 Kaditis AG, Alvarez MLA, Boudewyns A, Alexopoulos EI, Ersu R, Joosten K, et al. Obstructive sleep disordered breathing in 2-to 18-year-old children: diagnosis and management. Eur Respir J 2016;47:69-94.   DOI
5 Marcus CL, Brooks LJ, Ward SD, Draper KA, Gozal D, Halbower AC, et al. Diagnosis and management of childhood obstructive sleep apnea syndrome. Pediatrics 2012;130:e714-e755.   DOI
6 Mogayzel Jr PJ, Carroll JL, Loughlin GM, Hurko O, Francomano CA, Marcus CL. Sleep-disordered breathing in children with achondroplasia. J Pediatr 1998;132:667-671.   DOI
7 Onodera K, Niikuni N, Chigono T, Nakajima I, Sakata H, Motizuki H. Sleep disordered breathing in children with achondroplasia: Part 2. Relationship with craniofacial and airway morphology. Int J Pediatr Otorhinolaryngol 2006;70: 453-461.   DOI
8 Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis 2019;14:1-49.   DOI
9 Pauli RM, Scott CI, Wassman Jr ER, Gilbert EF, Leavitt LA, Ver Hoeve J, et al. Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr 1984;104:342-348.   DOI
10 Sano M, Takahashi N, Nagasaki K, Oishi M, Yoshimura J, Fujii Y. Polysomnography as an indicator for cervicomedullary decompression to treat foramen magnum stenosis in achondroplasia. Childs Nerv Syst 2018;34:2275-2281.   DOI
11 Afsharpaiman S, Sillence DO, Sheikhvatan M, Ault JE, Waters K. Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. Sleep and Breath 2011;15:755-761.   DOI
12 Ahn H, Shin H. Pediatrics. Seoul: Mirae N;2020. p.691-692.
13 Schluter B, De Sousa G, Trowitzsch E, Andler W. Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). Georgian Med News 2011; 196:63-72.
14 Silverberg DS, Oksenberg A, Iaina A. Sleep related breathing disorders are common contributing factors to the production of essential hypertension but are neglected, underdiagnosed, and undertreated. Am J Hypertens 1997;10:1319-1325.   DOI
15 Waters KA, Everett F, Sillence DO, Fagan ER, Sullivan CE. Treatment of obstructive sleep apnea in achondroplasia: Evaluation of sleep, breathing, and somatosensory-evoked potentials. Am J Med Genet 1995;59:460-466.   DOI
16 Stokes DC, Phillips JA, Leonard CO, Dorst JP, Kopits SE, Trojak JE, et al. Respiratory complications of achondroplasia. J Pediatr 1983;102:534-541.   DOI
17 Tenconi R, Khirani S, Amaddeo A, Michot C, Baujat G, Couloigner V, et al. Sleep-disordered breathing and its management in children with achondroplasia. Am J Med Genet A 2017;173:868-878.   DOI
18 Villa MP, Rizzoli A, Rabasco J, Vitelli O, Pietropaoli N, Cecili M, et al. Rapid maxillary expansion outcomes in treatment of obstructive sleep apnea in children. Sleep Med 2015;16:709-716.   DOI
19 Zaffanello M, Antoniazzi F, Tenero L, Nosetti L, Piazza M, Piacentini G. Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders. Ann Transl Med 2018;6:343.   DOI
20 Zucconi M, Weber G, Castronovo V, Ferini-Strambi L, Russo F, Chiumello G, et al. Sleep and upper airway obstruction in children with achondroplasia. J Pediatr 1996;129:743-749.   DOI