DOI: 10.36347/sjmcr.2022.v10i09.006

Pages: 879-882

Joubert syndrome is a rare genetic disorder of autosomal recessive inheritance characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis resulting in respiratory disorders, nystagmus, hypotonia, ataxia and delayed motor development. Magnetic resonance imaging allows the diagnosis to be made by demonstrating the "molar tooth sign". We report the observation of an infant aged 1 year 4 months, from a 2nd degree consanguineous marriage, hospitalized for seizures. On examination, she presented with hypotonia. She had abnormal eye movements such as nystagmus. The cerebral magnetic resonance image revealed hypoplasia of the cerebellar vermis and enlargement of the superior cerebellar peduncles with a "molar tooth" aspect in favor of a Joubert syndrome. The evolution was marked by the installation of a delay in psychomotor development.