Joubert’s syndrome: a case report

Joubert syndrome is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. This syndrome is difficult to diagnose clinically because of its variable phenotype. Signs and symptoms commonly include hypotonia abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. Various other abnormalities may also be present. This condition is characterized by a specific finding on an magnetic resonance imaging (MRI) called a "molar tooth sign" in which the cerebellar vermis of the brain is absent or underdeveloped and the brain stem is abnormal. The exact diagnosis is often not made for several years after birth.We present a case of Joubert syndrome in a thirteen year old male with developmental delay, ataxia, mild hypotonia, nystagmus and molar tooth sign on MRI. Awareness of the characteristic clinical and radiological findings in Joubert syndrome will help in early diagnosis, appropriate counselling and proper rehabilitation.