Atypical diffuse white matter changes in a patient with anti-GQ1B spectrum disorder: A case report

This case report has the objective to describe clinical presentation, imaging findings and management of a patient with a GQ1B related disorder, presenting with features involving the peripheral nervous system (autonomic dysfunction, acute flaccid paralysis with areflexia) and central nervous system (cerebellar findings, consciousness impairment, cranial nerve dysfunction) compatible with an associated rhombencephalitis. The case describes a previously healthy 30-year-old man with progressive balance problems that evolved to tetraparesis, diplopia, and consciousness impairment with the need of mechanical ventilation. The MRI revealed diffuse white matter changes, mainly involving the brainstem. He had a complete clinical improvement after 2 cycles of immunoglobulin and 7 sessions of plasmapheresis. This case highlights the importance of neuroimaging findings when evaluating a patient with the suspicion of rhombencephalitis to contribute for a better understanding of the MRI alterations in Bickerstaff encephalitis and the other disorders in the GQ1B spectrum.