Thursday 4 August 2011

Joubert syndrome MRI

Molar tooth appearance of mid brain with bat wing shape of fourth ventricle

Joubert syndrome

First identified by Dr Marie Joubert, Montreal, Canada, Pediatric neurologist.
A rare genetic disorder that involves areas of the brain that controls balance and coordination.
Characterized by absence or underdevelopment of cerebellar vermis and a malformed brain stem 'Molar tooth' sign - molar tooth shape of mid brain on axial sections with bat wing shape of fourth ventricle.
Clinical features:
Ataxia (most common), hyperapnea, sleep apnea, abnormal eye and tongue movements and hypotonia.
May be associated with other malformations like polydactaly, cleft lip or palate, anomaly of tongue.
Mental retardation.
Joubert is one of the many other genetic syndromes which are associated with syndromic retinitis pigmentosa.

Treatment is symptomatic and supportive like Infant stimulation, physical, occupational, and speech therapy. Infants with abnormal breathing patterns may need respiratory support and monitoring. 

Similar case : Joubert-syndrome CT Brain


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