Joubert Syndrome in an Eight Month Infant

Joubert syndrome is a rare disorder manifested by neuralgic, ophthalmic, renal, respiratory and radiological signs and Symptoms. Here we report an 8 months infant girl with history of neonatal respiratory distress. Hypotonia and (retinal dystrophy).She hospitalized in 4th mo for urinary fact infection and revealed that she had a unilateral multicystic and dysplastic kidney. It had broad forehead, hyperthelorism, depressed nasal bridge and bitemporal depression bilaterally, physical examination revealed; Rapid nystagmus in vertical and horizontal wards, wide open mouth with hyper salivation. In spite of normal physical growth she had delayed developmental milestones. Cranial MRI revealed vermis agenesis and molar tooth sign.