Clinics in diagnostic imaging (118).
An 18-month-old boy presented with delayed milestones, hypotonia, strabismus and an episode of seizure. Magnetic resonance (MR) imaging of the brain revealed abnormally-oriented and thickened superior cerebellar peduncle, giving rise to the characteristic molar tooth sign on axial images. The isthmus was thinned out, with widened interpeduncular cistern and hypoplastic vermis. The clinical and MR imaging features were diagnostic of Joubert syndrome.
Subramanian
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Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India. drsubbusmc@yahoo.co.in
Hari
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Santosh Kumar
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D002531:Cerebellum / Q000002:abnormalities*; D002658:Developmental Disabilities / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis*; D013285:Strabismus / Q000175:diagnosis*; D013577:Syndrome