[Joubert syndrome. Clinical and anatomo-pathologic study. Etiopathogenetic hypotheses]

Joubert's syndrome is characterized by an agenesis of the vermis and an unique respiratory abnormality consisting of bouts of extreme tachypnea and prolonged apneas. Three patients with this syndrome are reported with a polygraphic study and a recording of intracranial pressure in one of them and a pathological study in another. It is suggested that the agenesis of the vermis is caused by a prenatal hydrocephalus as is probably the case in the Dandy-Walker syndrome. A comparison is established between these two syndromes. The periods of tachypnea-apnea could represent the persistence of a fetal pattern of respiration with an excessive response to various stimuli, and might be explained by the delayed maturation of inhibitory mechanisms necessary for the establishment of the normal pattern of respiration and sleep. The possible role of a total vermian agenesis in the pathogenesis of respiratory abnormality is discussed.