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Volume 14 No. 08
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Accepted Papers

Case Reports

Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a PHOX2B Frameshift Mutation

Hennie C.J.P. Janssen, MD, PhD1; Anneke T. Vulto-van Silfhout, MD, PhD2; Marjolijn C.J. Jongmans, MD, PhD2,3; Annemieke H. van der Hout, PhD4; Sebastiaan Overeem, MD, PhD1,5
1Sleep Medicine Center Kempenhaeghe, Heeze, The Netherlands; 2Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; 3Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands; 4Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands; 5Eindhoven University of Technology, Eindhoven, The Netherlands

We report an unusual case of an adult patient carrying a germline PHOX2B frameshift mutation and hence was diagnosed with congenital central hypoventilation syndrome. He came to medical attention after the mutation was identified in his daughter who presented with hypoventilation and a neuroblastoma. Although PHOX2B mutations are usually associated with a phenotype of congenital hypoventilation, severe autonomic dysfunction and neural crest tumors, our patient had no complaints at the time of presentation. At polysomnography we found severe positional hypercapnic central sleep apnea, partly responsive to positional therapy. Eventually, he was titrated to noninvasive ventilation with resolution of the central breathing events and, in hindsight, a more refreshing sleep than before. Clinicians working in sleep medicine need to be aware of the variable expression of this rare condition to prevent late cardiorespiratory and neurocognitive complications.


Janssen HC, Vulto-van Silfhout AT, Jongmans MC, van der Hout AH, Overeem S. Severe positional central sleep apnea in an asymptomatic adult with a PHOX2B frameshift mutation. J Clin Sleep Med. 2018;14(8):1427–1430.

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