Joubert Syndrome Presenting With Oculomotor Apraxia and Motor Developmental Delay: A Case Report From a Neuro-Ophthalmology Clinic in Saudi Arabia

Joubert syndrome is an autosomal recessive genetic disorder that was first described in 1969. It can present with neonatal respiratory distress, ocular motility abnormalities, developmental delays, and other congenital cerebellar malformations. It is also connected to autism, hydrocephalus, and duodenal atresia. The incidence and severity of the disease are variable according to different presentations. We report a case of a female infant that was born to nonconsanguineous marriage and diagnosed at the age of four months with Joubert syndrome. The patient presented with global developmental delay and abnormal bilateral eye movements. Upon further investigation, brain magnetic resonance imaging showed a molar tooth sign, which is a characteristic finding and one of the diagnostic criteria of Joubert syndrome. A multidisciplinary team approach with ophthalmology, pediatrics, and physiotherapy departments was used, and the patient showed good progress in ocular, neurological and mental development. In conclusion, Joubert syndrome can be diagnosed early with the help of magnetic imaging and a multidisciplinary approach is necessary to provide good quality of life to these patients.