Joubert syndrome: unusual story

Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder characterized by hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements and breathing pattern. It has variable phenotype which makes it difficult to diagnose. We presented case of 14 month old girl with delayed milestones feeding difficulties. MRI brain this patient in contrast the classical molar tooth appearance showed only mild corticocerebral atrophy. Gene study revealed heterozygous missense mutation exon 1 INPP5E gene. Although our did not fulfil all three diagnostic criteria for JS, on gene sequencing, there was one commonly found genes JS. She managed multidisciplinary approach including physical speech therapy.