An Unusual Presentation of Joubert Syndrome in an Infant: A Case Study

Author(s): Susheel Kumar Saini, Ankit Singla, Vayom Thapar, Ajay Kumar Saini, Seema Kumari

Joubert syndrome (JS) is a rare autosomal recessive disorder which show’s cerebellar vermis hypoplasia with a complex brainstem malformation. Joubert syndrome is characterized by episodes of abnormal respiratory pattern, oculomotor findings, hypotonia, ataxia, developmental retardation. Axial magnetic resonance images of brain show characteristic molar tooth sign. This syndrome is difficult to diagnose clinically because of its variable phenotype. The exact diagnosis is often not made for several years after birth. We report an unusual presentation of Joubert syndrome in a 5 month old boy who presented to the pediatric outpatient clinic with developmental delay, increase in tone of body and abnormal head size. MRI Brain showed molar tooth configuration of superior cerebellar peduncles, the fourth ventricle shaped like a bat wing and hypoplasia of the vermis which resulted in median approach of the two cerebellar hemispheres.

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