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Joubert syndrome-The Molar Tooth Abnormality of Midbrain

Asian Journal of Pharmaceutical and Health Sciences,2013,3,1,594-596.
Published:February 2013
Type: Case Report
Authors:
Author(s) affiliations:

Mrinal K Ghosh1, Rudrajit Paul2,*, Subhodip Pramanik3, Sumit K Sarkar3

1,3Department of Medicine, Burdwan Medical College, Burdwan, West Bengal, India. 

2Department of Medicine, Medical College Kolkata, West Bengal, India.

Abstract:

Joubert Syndrome (JS) is a very rare autosomal recessive genetic condition associated with agenesis/ dysgenesis of parts of brainstem and cerebellar vermis. We report a rare case of Joubert Syndrome in an eighteen month old male child. He presented with delayed neuro-developmental milestones, hypotonia, progressive abnormal lateral gaze deviation and abnormal head movements. MRI of brain stem showed the Molar Tooth sign in brainstem caused by absence of isthmic portion and deformity of fourth ventricle. On follow up, the patient improved slightly. This could be the first report of this rare developmental disorder from Eastern India.

AXIAL T1 MRI image showing vermis hypoplasia and slimming of isthmus in brain stem