Syndrome de Joubert : A propos de deux observations néonatales de présentations différentes

Abstract

Joubert syndrome (JS) is a rare and autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, oculomotor apraxia and neonatal breathing abnormalities. Cerebral magnetic resonance is the first choice diagnostic modality with typical brain images characterized by the molar tooth sign. This disease belongs to ciliopathy with causative mutations of genes. After birth, it may cause a series of neurological symptoms, even with skeletal, retina, kidney, liver and other organ abnormalities. We describe two neonatal cases of JS revealed by apnea and rapid breathing. We also review clinical symptoms, imaging features and genetic findings of JS.