DOI: 10.36347/sjmcr.2015.v03i12.010

Pages: 1175-1178

Joubert Syndrome (JS) is a rare congenital autosomal recessive disorder. Obligatory finding and Hallmark feature is Molar tooth sign, a complex midbrain hindbrain malformation visible on MRI brain. Cardinal clinical feature is hypotonia evolving into ataxia usually presenting in infancy as hypotonia or early childhood as ataxia. When syndrome is associated with other system involvement it is called Joubert syndrome and related disorders (JSRD). We report a 13 year old boy who presented with progressive ataxia and hypotonia of one year duration and was diagnosed as having Joubert Syndrome on the basis of MRI Scan and other primary criteria. Management was limited to Physiotherapy, genetic counseling and advice for a regular follow up for early recognition of any other system involvement and complications.