Ondine's curse and rare oculomotor abnormalities: a case report

Ondine's Curse or congenital central hypoventilation syndrome (CCHS) is a neurocristopathy (failure of migration or differentiation of neural crest-derived precursor cells) and is characterized by hypoventilation or apnea, which is most pronounced during sleep, with no other abnormalities of the neuro-respiratory system. Because of respiratory distress soon after birth, patients must be intubated and ventilated for a long time. This disorder may be associated with other symptoms of neurocristopathy (Hirschsprung disease, neuroblastoma, neuroganglioma) and other abnormalities of the autonomic nervous system (vasomotor dysfunctions or ophthalmic abnormalities: abnormal pupils, insufficient convergence, strabismus, or ptosis). We report the original case of a CCHS patient who presented with alternative ptosis of both the right and left eyes and esotropia. The ocular findings should lead to earlier diagnosis and speedier adequate treatment.