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Diffusion tensor imaging in horizontal gaze palsy with progressive scoliosis
Ashwin Avadhani1, V Ilayaraja, Ajoy P Shetty
1Department of Spine Surgery, Ganga Hospital, Coimbatore-641043, India.
Magnetic Resonance Imaging
|January 15, 2010
Summary
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare ROBO3 gene disorder. Diffusion tensor imaging reveals abnormal brainstem tract crossing, aiding HGPPS diagnosis.
Area of Science:
- Neuroscience
- Genetics
- Radiology
Background:
- Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare genetic disorder.
- It is characterized by absent horizontal eye movements, progressive scoliosis, and is caused by mutations in the ROBO3 gene.
- ROBO3 gene mutations disrupt the crucial crossing (decussation) of major ascending and descending neural tracts in the medulla.
Observation:
- A 14-year-old boy diagnosed with HGPPS underwent diffusion tensor imaging (DTI).
- DTI revealed ipsilateral (same-sided) ascending and descending brainstem connectivity.
- Crucially, there was a lack of crossing over for major tracts, though corpus callosum connections were normal. Decussation of superior cerebellar peduncles was absent, but middle cerebellar peduncle crossing was preserved.
Findings:
- Tractography demonstrated abnormal decussation patterns in the brainstem consistent with HGPPS.
- The findings highlight the specific impact of ROBO3 mutations on neural tract development.
- Diffusion tensor imaging effectively visualizes these connectivity anomalies.
Implications:
- Tractography is a valuable tool for diagnosing HGPPS by visualizing aberrant neural pathways.
- This imaging technique complements structural MRI in confirming the diagnosis.
- Understanding these neuroanatomical defects provides insights into the pathogenesis of HGPPS and related disorders.
