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The disorder is characterized by absence or underdevelopment of the cerebellar vermis and a malformed brain stem. The most common features include ataxia, hyperpnea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. There may be mild or moderate retardation. The syndrome was first identified by pioneering pediatric neurologist Marie Joubert in Montreal, Canada, while working at the Montreal Neurological Institute and McGill University.
Joubert Syndrome
Hypotonia: low muscle tone
The MRI image of Joubert syndrome is described as the molar tooth sign. The arrows in this MRI image indicate the thickened superior cerebellar peduncles. The arrow indicates an anterior cleft in the midbrain, which represents the dysgenesis of the isthmic portion of the brainstem. The asterisk indicates the interpeduncular fossa. The cerebellar vermis, which is absent in Joubert syndrome, should be located approximately 2 cm below the asterisk. This is linked to the brain's natural ability to integrate and analyze inertial motion.
Hyperpnea: abnormal breathing patterns
ataxia: lack of muscle control
Symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored.
Treatment
Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.
Prognosis
