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J Clin Sleep Med. 2018 Aug 15;14(8):1427-1430. doi: 10.5664/jcsm.7290.

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

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Sleep Medicine Center Kempenhaeghe, Heeze, The Netherlands.
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
Eindhoven 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.


NPARM; PHOX2B; congenital central hypoventilation syndrome; positional central sleep apnea

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