Background: Miller Fisher syndrome (MFS) and Bickerstaff's Brainstem Encephalitis (BBE) share some clinical features and a common immunological profile characterized by anti-GQ1b antibodies. Some MFS patients overlap with Guillain-Barré syndrome (GBS) or BBE. We report a patient with MFS, BBE, and axonal GBS overlap in whom serial electrophysiological studies showed persistent motor conduction blocks (CBs). Case presentation: A 61-year-old man acutely developed ophtalmoparesis, ataxia and areflexia suggesting MFS. Paresthesias, severe weakness, and drowsiness rapidly developed indicating an overlap with BBE and GBS. Preceding infection with Mycoplasma Pneumoniae and anti-GQ1b antibodies were detected. On day 4, nerve conduction study showed reduced or non-recordable compound muscle action potentials (CMAPs) and sensory nerve action potentials (SNAPs) without demyelinating features, indicating the electrodiagnosis of acute motor and sensory axonal neuropathy and suggesting a poor prognosis. Intravenous immunoglobulins (IVIg) were given but clinical status worsened to ophthalmoplegia, tetraplegia and coma needing mechanical ventilation. A second IVIg course was given and the patient was weaned off ventilation on day 41 and transferred to rehabilitation on day 57 with partial resolution of the ophthalmoplegia and limited recovery of muscle strength. Electrophysiology showed, after 10 weeks, greatly improved distal CMAP amplitudes suggesting the resolution of distal CBs while CBs in intermediate and proximal nerve segments emerged. CBs unusually persisted for four to 6 months without development of abnormal temporal dispersion. A third IVIg course was started on day 179 and the resolution of CBs mirrored the clinical improvement. Conclusions: GQ1b gangliosides are expressed in the nodal region of oculomotor nerves, muscle spindle afferents, peripheral nerves and possibly in the brainstem reticular formation. Anti-GQ1b antibodies may explain the complex symptomatology and the overlap between MFS, BBE, and GBS. CBs that persisted and recovered without the development of temporal dispersion suggest that weakness was due to a sustained, antibody-mediated, attack at the nodal region inducing a non-demyelinating conduction failure as expression of an acute onset, long lasting, nodopathy. Serial electrophysiological studies allowed not only to understand the underlying pathophysiology and formulate a more correct prognosis but also to guide the treatment.

Miller Fisher syndrome, Bickerstaff brainstem encephalitis and Guillain-Barré syndrome overlap with persistent non-demyelinating conduction blocks: a case report

Uncini, Antonino
2018

Abstract

Background: Miller Fisher syndrome (MFS) and Bickerstaff's Brainstem Encephalitis (BBE) share some clinical features and a common immunological profile characterized by anti-GQ1b antibodies. Some MFS patients overlap with Guillain-Barré syndrome (GBS) or BBE. We report a patient with MFS, BBE, and axonal GBS overlap in whom serial electrophysiological studies showed persistent motor conduction blocks (CBs). Case presentation: A 61-year-old man acutely developed ophtalmoparesis, ataxia and areflexia suggesting MFS. Paresthesias, severe weakness, and drowsiness rapidly developed indicating an overlap with BBE and GBS. Preceding infection with Mycoplasma Pneumoniae and anti-GQ1b antibodies were detected. On day 4, nerve conduction study showed reduced or non-recordable compound muscle action potentials (CMAPs) and sensory nerve action potentials (SNAPs) without demyelinating features, indicating the electrodiagnosis of acute motor and sensory axonal neuropathy and suggesting a poor prognosis. Intravenous immunoglobulins (IVIg) were given but clinical status worsened to ophthalmoplegia, tetraplegia and coma needing mechanical ventilation. A second IVIg course was given and the patient was weaned off ventilation on day 41 and transferred to rehabilitation on day 57 with partial resolution of the ophthalmoplegia and limited recovery of muscle strength. Electrophysiology showed, after 10 weeks, greatly improved distal CMAP amplitudes suggesting the resolution of distal CBs while CBs in intermediate and proximal nerve segments emerged. CBs unusually persisted for four to 6 months without development of abnormal temporal dispersion. A third IVIg course was started on day 179 and the resolution of CBs mirrored the clinical improvement. Conclusions: GQ1b gangliosides are expressed in the nodal region of oculomotor nerves, muscle spindle afferents, peripheral nerves and possibly in the brainstem reticular formation. Anti-GQ1b antibodies may explain the complex symptomatology and the overlap between MFS, BBE, and GBS. CBs that persisted and recovered without the development of temporal dispersion suggest that weakness was due to a sustained, antibody-mediated, attack at the nodal region inducing a non-demyelinating conduction failure as expression of an acute onset, long lasting, nodopathy. Serial electrophysiological studies allowed not only to understand the underlying pathophysiology and formulate a more correct prognosis but also to guide the treatment.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11564/723268
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