title: High-Resolution Diffusion Tensor Imaging and Tractography in Joubert Syndrome: Beyond Molar Tooth Sign.
abstract: BACKGROUND
  We undertook diffusion tensor imaging analysis of brainstem fiber tracts in two Joubert syndrome patients.
  
  
  METHODS
  Two Joubert syndrome patients underwent magnetic resonance imaging brain examination with diffusion tensor imaging. Imaging findings were compared with five age- and sex-matched control subjects with approval from the institutional ethic committee. The medical history and clinical examination findings in both patients were documented.
  
  
  RESULTS
  Diffusion tensor imaging analysis of the first patient demonstrated absence of the dorsal pontocerebellar tract and thinning of the middle cerebral peduncle. Diffusion tensor imaging analysis of the second child revealed thinning of the both the dorsal pontocerebellar and ventral pontocerebellar tract. Both patients exhibited thickened and horizontally oriented superior cerebellar peduncles. The superior cerebellar peduncles also failed to decussate in the mesencephalon.
  
  
  CONCLUSIONS
  Pontocerebellar tract abnormalities in Joubert syndrome patients have not been previously recognized. The difference in the pontocerebellar tract between the two Joubert syndrome patients suggests a spectrum of severity of pontine axonal migration abnormality.
authors.affiliation: Department of Medical Imaging, Gold Coast University Hospital, Southport, Queensland, Australia.
authors.forename: Charlie Chia-Tsong
authors.initials: CC
authors.lastname: Hsu
authors.affiliation: Department of Medical Imaging, Gold Coast University Hospital, Southport, Queensland, Australia.
authors.forename: Gigi Nga Chi
authors.initials: GN
authors.lastname: Kwan
authors.affiliation: Department of Medical Imaging, Gold Coast University Hospital, Southport, Queensland, Australia; Griffith University, School of Medicine, Southport, Queensland, Australia. Electronic address: sandeepbhuta@gmail.com.
authors.forename: Sandeep
authors.initials: S
authors.lastname: Bhuta
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D001921:Brain / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D056324:Diffusion Tensor Imaging; D005124:Eye Abnormalities / Q000473:pathology; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009434:Neural Pathways / Q000473:pathology; D012160:Retina / Q000002:abnormalities* / Q000473:pathology
keywords: diffusion tensor imaging; joubert syndrome; magnetic resonance imaging