Abstract

JOUBERT SYNDROME: A CASE STUDY

Dr. Saniya Y. Pathan*, Dr. T. Y. Swamy, Dr. Anil B. Kale and Dr. Ashish P. Rana

Abstract

Joubert syndrome is an autosomal recessive disorder associated with agenesis of cerebellar vermis of the brain that controls balance and coordination. It is characterized by cerebellar vermis hypoplasia, hypotonia, and one of the two conditions: abnormal breathing pattern and or abnormal eye movement. Here we present a case study of 4.5 years old male diagnosed with joubert syndrome having major complaints of delayed milestones, hypotonia and oculomotor apraxia. At present no treatment is available on joubert syndrome in modern medical science. The assessment was monitored through GMFCS score, which is not only flaw free but gives exact improvement status along with Development quotient (DQ) which was also assessed to ascertain whether the velocity of development is achieved or not. Study reveals the management of Joubert syndrome based on Ayurvedic principles which proved to be very beneficial in this case.

Keywords: Joubert syndrome, autosomal recessive disorder, oculomotor apraxia, GMFCS, DQ.