Dr. MYNUPRIYA M

Dr.MIR ALAM SIDDIQUE, DR. LAKHIMAI BEYPI

Abstract

Joubert Syndrome is characterized by cerebellar vermis hypoplasia with ocular manifestations. We report 11 months old female child with bilateral torsional nystagmus, oculomotor apraxia, inability to fixate and follow objects visually. Retinal dystrophy was absent. The child had delayed developmental milestones along with hypotonia and abnormal breathing pattern. Multi-organ involvement was absent. The MRI brain revealed typical molar tooth sign that is hallmark of Joubert Syndrome. Photographs and video of the patient will be presented at the time of presentation. Worldwide only 200 cases has been reported and is the first case to be reported from Northeast India.