Functional magnetic resonance imaging and diffusion tensor imaging findings in a patient with ROBO3-related horizontal gaze palsy with progressive scoliosis

Achados de functional magnetic resonance imaging e diffusion tensor imaging em um paciente com paralisia da mirada horizontal com progressiva escoliose, relacionado ao gene ROBO3

A 24-year-old-woman woman presented with birth-onset horizontal gaze ophthalmoplegia. Past medical history was unremarkable. Her brother had similar findings with severe progressive scoliosis, requiring surgery. After 12 years of follow-up, the patient developed mild head tremor which did not bother her and nightmare disorders that was successfully treated with nortriptyline^. Spine X-rays revealed mild scoliosis. Whole exome analysis revealed c.906-17G>A mutation in ^ROBO3 splicing site, confirming horizontal gaze palsy with progressive scoliosis (HGPPS). Diffusion tensor imaging (DTI) tractography revealed parallel non-decussating corticospinal tracts (Figure 1A), which markedly diverges from healthy controls (Figure 1B). Motor task functional magnetic resonance imaging (fMRI) revealed ipsilateral activation of the primary motor cortex (Figure 2).

Figure 1.
Diffusion tensor imaging tractography with adjusted parameters to evaluate the brainstem and the upper portion of the spinal cord. (A) Arrow indicates the absence of corticospinal tracts decussation in a patient with ROBO3-related horizontal gaze palsy with progressive scoliosis. (B) Diffusion tensor imaging tractography obtained from a healthy subject at Universidade Estadual de Campinas (Neuroimaging Laboratory database). Arrow highlights normal appearance of pyramidal decussation.

Figure 2.
Functional magnetic resonance imaging images obtained from a patient with ROBO3-related horizontal gaze palsy with progressive scoliosis (images printed in neurological convention). (A) Predominant right primary motor cortex activation (yellow) while performing right-hand motor task. It is also noticeable that cerebellar activation (red) is also ipsilateral, confirming it was not due to technical error. (B) Predominant left primary motor cortex activation (yellow) while performing left-hand motor task.

References

• ¹
  Pinero-Pinto E, Pérez-Cabezas V, Tous-Rivera C, Sánchez-González J-M, Ruiz-Molinero C, Jiménez-Rejano J-J, et al. Mutation in robo3 gene in patients with horizontal gaze palsy with progressive scoliosis syndrome: a systematic review. Int J Environ Res Public Health. 2020 Jun;17(12):4467. https://doi.org/10.3390/ijerph17124467
  » https://doi.org/https://doi.org/10.3390/ijerph17124467
• ²
  Scortegagna FA, Pacheco FT, Hoffmann Nunes R, Serpa A, Migliavacca MP, Rocha AJ. Case 278: Mutation in ROBO3 Gene - Horizontal gaze palsy and progressive scoliosis. Radiology. 2020 Jun;295(3):736-40.

Publication Dates

• Publication in this collection
  01 Oct 2021
• Date of issue
  Dec 2021

History

• Received
  04 June 2021
• Reviewed
  23 June 2021
• Accepted
  18 July 2021