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MRI with fibre tracking in Cogan congenital oculomotor apraxia

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Abstract

Background

Congenital ocular motor apraxia (COMA) occasionally shares with Joubert syndrome (JS) and related disorders (JSRDs) a peculiar malformation, the ‘molar tooth sign’ (MTS). In JSRDs, the absence of superior cerebellar peduncles (SCP) decussation is reported.

Objective

To investigate whether COMA demonstrates similar abnormal axonal pathways.

Materials and methods

Eight healthy age-matched controls, three children with clinical COMA and one child with clinical JSRD underwent examination with a 1.5-T MRI scanner. Diffusion-weighted imaging (DWI), colour-coded fractional anisotropy maps and three-dimensional diffusion tensor imaging (DTI) tractography of the cerebellorubral network were analyzed.

Results

On DTI cartography, the ‘red dot’ originally supposed to represent the SCP decussation in the midbrain was present in controls as well in those with COMA but absent in the single case with JS. In none of the subjects including controls was 3-D FT able to depict the SCP decussation. When seeded, the red dot resulted in the ventral tegmental decussation (VTD). It was normal in controls and in patients with COMA but was absent in our single patient with JSRD. MTS was identified in alla patients with COMA and in the patient with JSRD.

Conclusion

MTS can be present in both COMA and JSRD but the underlying anatomy depicted by fibre tracking is distinct. The main difference is the integrity of the VTD in COMA.

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Abbreviations

ADC:

Apparent diffusion coefficient

COMA:

Congenital ocular motor apraxia

CTT:

Central tegmental tract

DSI:

Diffusion spectrum imaging

DTI:

Diffusion tensor imaging

DWI:

Diffusion-weighted imaging

FA:

Fraction anisotropy

FOV:

Field of view

FT:

Fibre tracking

HARDI:

High angular resolution diffusion imaging

JS:

Joubert syndrome

JSRDs:

Joubert syndrome related disorders

MPR:

Multiplanar reconstruction

MTS:

Molar tooth sign

ODF:

Orientation distribution function

OMA:

Oculomotor apraxia

PT:

Pyramidal tracts

PTCD:

Pontine tegmental cap dysplasia

QBI:

Q-ball imaging

ROI:

Region of interest

SCP:

Superior cerebellar peduncles

SNR:

Signal/noise ratio

VTD:

Ventral tegmental decussation

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Acknowledgements

The authors are grateful to Dr Steven Singer and Sev Fluss for their editorial assistance.

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Authors and Affiliations

  1. Pediatric Radiology, University Hospital of Geneva, 6, Willy-Donzé, 1205, Geneva, Switzerland

    Laura Merlini

  2. Neuroradiology, University Hospital of Geneva, Geneva, Switzerland

    Maria I. Vargas

  3. Pediatric Ophthalmology, University Hospital of Geneva, Geneva, Switzerland

    Raoul De Haller

  4. Pediatric Neurosurgery, University Hospital of Geneva, Geneva, Switzerland

    Bénédict Rilliet

  5. Pediatric Neurology, University Hospital of Geneva, Geneva, Switzerland

    Joel Fluss

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  1. Laura Merlini
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  2. Maria I. Vargas
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  3. Raoul De Haller
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  4. Bénédict Rilliet
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  5. Joel Fluss
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Correspondence to Laura Merlini.

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Merlini, L., Vargas, M.I., De Haller, R. et al. MRI with fibre tracking in Cogan congenital oculomotor apraxia. Pediatr Radiol 40, 1625–1633 (2010). https://doi.org/10.1007/s00247-010-1653-3

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  • DOI: https://doi.org/10.1007/s00247-010-1653-3

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