A Case Report of Joubert Syndrome and Related Disorders

Joubert syndrome is a rare genetic heterogeneous disorder characterized by cerebellar and brain stem malformations and multisystem involvement in varying proportions. It is also known as cerebello-ocular -renal syndrome. The presentation of JS is variable. Diagnosis of "Classic JS" is based on the presence of a Molar tooth appearance on MRI, Hypotonia in infancy later progressing to ataxia, Development delay, abnormal breathing pattern, and abnormal eye movements. If JS is associated with additional features like retinal dystrophy, ocular coloboma, congenital heart disease, cystic kidney disease, liver fibrosis, polydactyly, and dysmorphic facies it is called as "JSRD" (JS and related disorders). Our case presents with JSRD with Molar tooth appearance on MRI, Molar tooth, cystic kidney disease, and dysmorphic facies. Affected babies require periodic follow-up visits with growth monitoring, neurological assessment, monitor for progressive JSRD complications. These babies often require early intervention through speech, occupational, and physical therapy. Once the diagnosis is made in a neonate, serial antenatal USG screening should be performed in subsequent pregnancies combined with fetal MRI at 20-22 weeks gestation to maximize the accuracy of prenatal diagnosis. In general Prognosis for JS is poor and depends on the severity of different organ involvement with 5-year survival rate is 50%. Death is usually due to feeding difficulties and respiratory infections.