Central hypoventilation and brainstem dysgenesis

Pediatr Neurol. 2012 Apr;46(4):257-9. doi: 10.1016/j.pediatrneurol.2012.02.011.


We report on a newborn with congenital hypotonia, unilateral facial palsy, sucking and swallowing difficulties, velopalatine incoordination, and unilateral impairment of the auditory brainstem responses, attributable to brainstem dysgenesis. On follow-up, the child manifested developmental delay and central hypoventilation syndrome during sleep. The ventilation abnormality during sleep with insensitivity to hypercapnia, associated with unilateral facial paralysis, indicates a pontine lesion, including the parafacial respiratory group.

Publication types

  • Case Reports

MeSH terms

  • Brain Stem / abnormalities*
  • Brain Stem / physiopathology*
  • Child, Preschool
  • Deglutition Disorders / complications
  • Developmental Disabilities / complications
  • Evoked Potentials, Auditory, Brain Stem / physiology
  • Facial Paralysis / complications
  • Female
  • Functional Laterality
  • Humans
  • Hypoventilation / complications*
  • Hypoventilation / pathology*
  • Magnetic Resonance Imaging