Joubert Syndrome in 10-Year-Old with Renal Involvement: A Case Study

Abstract

Joubert syndrome (JS) is a rare recessive autosomal disorder in infants and children. JS is a ciliopathy with defects in the primary cilium. JS has mid brain-hind brain malformation which includes: (i) cerebellar vermis hypoplasia, (ii) abnormal deep interpeduncular fossa at Isthmus and Pons, and (iii) Horizontally thickened and elongated Superior Cerebellar Peduncles. Diagnostic symptoms include hypotonia, ataxia, abnormal breathing patterns, atypical eye movements, and intellectual disability. Molar tooth sign on axial sections of MRI (magnetic resonance imaging) is a primary diagnostic criterion. Here we report a case of a 10-year-old female intellectually disabled child who was noted to have developmental delay and vision problems soon after 5 to 6 months of birth. The patient was diagnosed with JS based on an MRI brain finding of Molar tooth appearance.