Central alveolar hypoventilation (Ondine's curse) in Joubert syndrome

Introduction: Both the congenital central hypoventilation syndrom (Ondine's curse) and the Joubert syndrome are rare and independent diseases, each being published less than 200 times. We give a report on a patient, who shows a classical Ondine's curse symptom complex and nevertheless fulfills the diagnostic criteria of Joubert-Syndrome.

Case report: Our patient (b. 07/1999) since birth showed central alveolar hypoventilation. After eight months of permanent artificial respiration the patient could breath by himself, first throughout episodes, later daily for minutes to hours. Still today he is dependant of the respirator, within 24 hours twice for several hours. In addition he shows an extreme muscular hypotonia, cerebellar ataxia, a severe and global developmental delay, characteristic phenotypic features (arciform eyebrows, a broad dorsum of the nose, anteverted orifices of the nose, the open mouth formed as a triangle with a prominent tongue, strabism and ptosis) and neuroradiologically hypoplasia of the vermis of the cerebellum, corpus callosum deficiency and cerebral hypoplasia. Thus the diagnostic criteria of Joubert syndrome are fulfilled. There are no intermittent tachypnoic episodes. An association with a dysganglionosis was excluded.

Conclusion: Central alveolar hypoventilation, hitherto described only (a) as an isolated symptom called Ondine's curse or (b) in association with dysganglionosis, can appear (c) as a principal sign of Joubert syndrome.

Keywords: Joubert syndrome; Ondine’s curse, congenital central hypoventilation syndrome (CCHS)