Ondine curse and neurocristopathy

Pediatr Neurol. 1987 Nov-Dec;3(6):370-2. doi: 10.1016/0887-8994(87)90011-7.

Abstract

Two newborns, 1 male and 1 female, had both Ondine curse, also known as congenital, central hypoventilation syndrome, and Hirschsprung disease. Both infants demonstrated insufficient respiration while asleep and normal respiration when awake. The lesser affected child had an otherwise normal neurologic examination, but suffered from seizures. He died at 18 months of age; neuropathologic examination of the brain was unremarkable. The girl had a severe and ultimately fatal form of this disorder and manifested a variety of neurologic abnormalities indicative of developmental failure of the neural crest-derived tissues. These abnormalities included unreactive pupils and deafness. She died at 40 days of age; autopsy permission was denied. The etiology of sleep apnea is not known. Mechanisms of central integration may be abnormal but the association with neural crest maldevelopment implicates the peripheral nervous system.

Publication types

  • Case Reports

MeSH terms

  • Axons / ultrastructure
  • Brain / pathology
  • Hirschsprung Disease / pathology*
  • Humans
  • Infant, Newborn
  • Male
  • Myenteric Plexus / pathology
  • Nerve Fibers, Myelinated / pathology
  • Neurons / ultrastructure
  • Sleep Apnea Syndromes / pathology*