A Case Report on Jouberts Syndrome

Abstract

Joubert syndrome is an autosomal recessive hereditary condition that affects the area of the brain that controls balance and coordination. Because of its varied phenotype, this disease is difficult to diagnose clinically. Hypotonia, irregular respiratory patterns, abnormal eye movements, ataxia, unusual facial traits, and intellectual disabilities are all common signs and symptoms. Other abnormalities could be present as well. The cerebellar vermis of the brain is absent or underdeveloped, and the brain stem is aberrant, which is characterized by a specific finding on an MRI called a "molar tooth sign. A thirteen-year-old male with developmental delay, ataxia, mild hypotonia, nystagmus, and molar tooth sign on MRI was diagnosed with Joubert syndrome. Understanding the clinical and radiological features of Joubert syndrome will aid in early diagnosis, appropriate counseling, and proper rehabilitation.