Publicación Oficial de la Sociedad Ecuatoriana de Neurología, de la Liga Ecuatoriana Contra la Epilepsia y de la Sociedad Iberoamericana de Enfermedad Cerebrovascular

Signo del molar

 

Síndrome de Joubert Asociado a Apnea Central del Sueño en un Adulto de Colombia. Joubert Syndrome Associated With Central Sleep Apnea In An Adult From Colombia

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 pu- blished 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.

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