Abstract
BackgroundCongenital central hypoventilation syndrome (CCHS) is a rare disease characterized by severe central hypoventilation due to abnormal autonomic control of breathing. The PHOX2B gene, mutations of which define the disease, is expressed in a group of nuclei located in brainstem areas. Pathways controlling breathing and auditory pathways traverse very similar anatomic structures. In the present study, we measure brainstem auditory evoked potentials (BAEP) to assess auditory pathways in CCHS and investigate to which extent brainstem auditory pathways are also affected.MethodsBAEPs were measured in 15 patients with PHOX2B mutations positive CCHS (8 boys and 7 girls. mean age 6.3 yrs ± 5) as part of their regular follow-up in the Centre of reference for central hypoventilation (Robert Debré University Hospital. Paris. France).ResultsBAEP responses were found normal in nine patients (60% of the study group) and abnormal in the other six (40%). Abnormal BAEPs which resulted from brainstem dysfunction were found in three patients (20%).ConclusionDysfunction of brainstem auditory pathways can be observed in CCHS. However, auditory evoked responses can be normal in the disease, therefore suggesting much more complex yet-to-be determined interactions between pathways and functions of central control of breathing and of control of hearing.
Highlights
Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by severe central hypoventilation due to abnormal autonomic control of breathing
Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by abnormal autonomic control of breathing resulting in severe alveolar hypoventilation that is most marked during non-rapid eye movement sleep [1,2]
Brainstem auditory evoked potentials (BAEP) are the changes in the ongoing electric activity generated in auditory pathways of the brain that is elicited by external auditory stimuli
Summary
Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by severe central hypoventilation due to abnormal autonomic control of breathing. Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by abnormal autonomic control of breathing resulting in severe alveolar hypoventilation that is most marked during non-rapid eye movement sleep [1,2]. CCHS is frequently associated with a number of clinical conditions caused by abnormal development of the autonomic nervous system: Hirschsprung’s disease [5,6], neural crest tumors [3], reduced or absent central chemosensitivity and dyspnea sensations [7,8], heart rate and Brainstem auditory evoked potentials (BAEP) are the changes in the ongoing electric activity generated in auditory pathways of the brain that is elicited by external auditory stimuli. Recordings of BAEPs are used as a noninvasive neurophysiologic method to assess brainstem
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