Search

Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy, and its involvement in the central nervous system (CNS) is very rare. We herein report a 51-year-old woman with CMT1A who suffered from recurrent optic neuritis and myelopathy. Under the diagnosis of anti-aquaporin-4 (anti-AQP4) antibody positive neuromyelitis optica spectrum disorder (NMOSD), we treated her successfully with corticosteroids. This is the first report of CMT1A complicated with anti-AQP4-positive NMOSD. Although the coexistence of the two disorders may simply be a coincidence, we speculated that immune cross-reaction between overexpressed peripheral myelin protein 22 and CNS myelin may have caused concomitant CMT1A and NMOSD.

An 89-year-old man attempted suicide by ingesting a pesticide (trichlorfon). After surviving the initial critical period in the intensive care unit, he developed rapidly progressive distal weakness and sensory disturbance. Electrophysiological examinations revealed sensory motor axonal polyneuropathy. Delayed polyneuropathy is a rare manifestation of organophosphate poisoning. Nerve conduction studies play an important role in the diagnosis of this rare clinical condition.

Post-radiation lower motor neuron syndrome (PRLMNS) is a rare neurological complication of radiation therapy and its pathogenesis is unclear. We herein report a patient with PRLMNS who developed leg weakness 17 years after craniospinal radiation as a treatment for suprasellar germinoma. The electrophysiological evaluation, via a novel magnetic stimulation method, indicated a prolonged cauda equina conduction time, suggesting focal demyelination of the nerve roots in the cauda equina. The distribution of the denervated muscles detected by magnetic resonance imaging was consistent with patchy motor nerve root lesions. These results support the hypothesis that PRLMNS originates from ischemic radiculopathy in the cauda equina.

A 70-year-old woman developed marked akinesia after an anoxic event related to bronchiectasia. Magnetic resonance imaging studies revealed lesions in the bilateral globus pallidus and, to a lesser extent, in the putamen. Positron emission tomography studies with (18)F-6-fluoro-L-dopa and (11)C-N-methylspiperone showed a decreased pre- and post-synaptic uptake in the striatum. Consistent with previous reports, the present case demonstrated the basal ganglia, particularly the globus pallidus, to be selectively susceptible to anoxic insults. Furthermore, a PET study indicated a disrupted presynaptic integrity of the dopaminergic terminals and decreased dopamine D(2) receptor binding, which together appear to underlie the pathophysiology of post-anoxic akinesia, at least in the present case.