Joubert syndrome misdiagnosed as hypotonic cerebral palsy: Confirmation by magnetic resonance imaging

Abstract

Joubert syndrome is a rare autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. We report a 7-year-old female child who was referred to our department as a case developmental delay and hypotonia due to hypotonic cerebral palsy for magnetic resonance imaging (MRI) of the brain. MRI of the brain revealed typical molar tooth sign, bat wing appearance of the fourth ventricle, and dysgenesis of the superior cerebellar vermis. Determination of the symptoms, early diagnosis, and genetic consultation are the goals for decision-making to begin treatment and rehabilitation programs.