Introduction:

The Joubert syndrome is an autosomal recessive disorder, classified as a ciliopathy. The primary cilia have a role in neuronal proliferation and axonal migration in the cerebellum and brainstem. Marie Joubert and colleagues in 1969 published four cases with partial or total agenesis of the cerebellar vermis and apnea-hyperpnea neonatal episodic disorder. From an early age the principal manifestations are: abnormal breathing pattern, nystagmus, swallowing alterations, hypotonia, ataxia and intellectual disability. Classically, the neonatal breathing disorder improve with age.

Clinical case:

A 39 years old, with intellectual disability and a history of a movement disorder involving a lower extremity, snoring, episodes of central apnea, hypotonia and nystagmus. He was the second child, with an uncomplicated, full-term gestation. In the clinical exam was found dysarthria, short term and semanticmemory loss, Epworth scale: 9/24. Brain magnetic resonance imaging (MRI) showed cerebellar vermis hypoplasia and elongation of the hemispheres as the “molar tooth sign”. Moreover, a polysomnography study found a central sleep apnea disorder.

Discussion:

It is fundamental to recognize this syndrome to establish a prenatal or an early age diagnosis, for a multidisciplinary approach and an early genetic counseling. The treatment of the sleep disorder in these patients is crucial for a better quality of life.