Diffusion tensor imaging in horizontal gaze palsywith progressive scoliosis

Abstract Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder characterized by absence of conjugate horizontal eye movements, preservation of vertical gaze and convergence, progressive scoliosis developing in childhood and adolescence. It is caused by mutations in the ROBO3 ge...

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Bibliographic Details
Published in:Magnetic resonance imaging 2010-02, Vol.28 (2), p.212-216
Main Authors: Avadhani, Ashwin, Ilayaraja, V, Shetty, Ajoy P, Rajasekaran, S
Format: Article
Language:English
Subjects:
Diffusion tensor imaging
HGPPS
Horizontal gaze palsy
Radiology
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Summary:Abstract Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder characterized by absence of conjugate horizontal eye movements, preservation of vertical gaze and convergence, progressive scoliosis developing in childhood and adolescence. It is caused by mutations in the ROBO3 gene which are critical for the crossing of long ascending medial lemniscal and descending corticospinal tracts in the medulla. Diffusion tensor imaging on a 14-year-old boy with HGPPS revealed ipsilateral ascending and descending connectivity in the brainstem without any crossing over of the major tracts although normal interhemispheric connections in the corpus callosum was demonstrable. Absent decussation of smaller sized superior cerebellar peduncles but with normal crossing over of the middle cerebellar peduncle was also observed. Tractography is a valuable investigative modality to assess neuronal connections in the brain and is a useful adjunct to the structural magnetic resonance imaging in confirming the diagnosis of HGPPS.
ISSN:0730-725X
1873-5894
DOI:10.1016/j.mri.2009.10.004