Abstract

Joubert syndrome and related disorders (JSRD) are a spectrum of disorders that have some, but not all, features in common. Joubert syndrome (JS) is a rare autosomal recessive of central nervous system characterized by hypoplasia of the cerebellar vermis, malformed brain stem. It may be accompanied by other organs’ disorders such as ocular, skeletal, hepatic, renal and others. Here, we report a 32 year old educated, married, female who presented with quadriparesis following FTNVD and history of delayed developmental milestones, intellectual disability with distinctive facial features. She was diagnosed on the basis of MRI findings which revealed molar tooth shaped brain stem and batwing shaped fourth ventricle along with spina bifida and dorsal meningocele with disc protusion causing cord compression at cervical level.

Keywords: Joubert syndrome and related disorders (JSRD), MTS, Quadriparesis, Adult Presentation.