Joubert syndrome is frequently associated with developmental delay and mental retardation, neonatal tachypnea and apnea, abnormal eye movements, and ataxia. It is inherited by an autosomal recessive trait.
The most significant and constant neuropathological finding is partial or total agenesis of cerebellar vermis. Absence of the vermis results in a triangular -shaped mid-fourth ventricle and a "bat-wing" shaped fourth ventricle superiorly. The
superior
cerebellar peduncles are nearly horizontal. Retinal dystrophy, ocular motility disorders, and polydactyly may also occur. Symptoms may occur during the neonatal period and prognosis is grave.
We report a typical case of Joubert syndrome in a 5 months-old female with developmental delay, tachypnea and intermittent apnea, abnormal eye movements, axial ataxia, and agenesis of the cerebellar vermis on brain MRI and SPECT and a brief
review
of
related literature are also contained.
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