Objective: To present a case report of a Mexican patient with a progressive encephalomyelitis with rigidity and myoclonus (PERM) with a good response to steroids.

Background: PERM is a subtype of stiff-person syndrome (SPS) which usually presents in the fifth or sixth decades of life with insidious onset and a relapsins-remitting course, prominent brainstem dysfunction, dysautonomia, besides SPS phenomenon. Association with anti-glycine receptor antibodies or anti-GAD antibodies is common and in 20% of patients a tumor is found[1]. Benzodiazepines,antiespasmods agents and immunosuppression are part of its treatment[2].

Method: We performed a clinical record search for a Mexican patient attnded in Specialities Hospital of Centro Medico Nacional “Siglo XXI”, Instituto Mexicano del Seguro Social, in Mexico city, Mexico.

Results: 55 years old female, previously healthy, who develops 9 months before evaluation dizziness and ataxia. It is added weakness of the four limbs and muscle spasms with walking difficult, as well as liquid dysphagia. During evaluation the patient presented dysarthria, bilateral ptosis, multidirectional nystagmus, bilateral peripheral facial palsy, generalized rigidity, muscle spasms in the back and myoclonias evokated with sound and touch. Magnetic resonance of the brain was found normal. Electromyography with continuous muscular activity in paraspinal muscles in rest attenuated with benzodiazepines. Under suspicion of PERM, we look for anti-GAD antibodies, which were found in serum [figure1]. Treatment with lorazepam, levetiracetam and methylprednisolone were started, with a remission of myoclonia, muscle spasm, nystagmus and rigidity, managing to walk our patient. No cancer was found.

Conclusion: In our knowledge, this is the first Mexican patient reported with PERM with a good evolution and without cancer diagnosis. Despite it has been reported fatal cases of PERM[3], some of them have an excellent response with immunosuppression[4]. This rare disease is a challenge to the neurologist, so we expect that this case report helps other physicians.

References: 1. Baizabal-Carvallo J, et al. Stiff-person syndrome: insights into a complex autoimmune disorder. J Neurol Neurosurg Psychiatry 2015; 86: 840-848. 2. Ciccotto G, et al. Stiff Person Syndrome. Neurol Clin 2013; 31: 319-328. 3. Turner M, et al. Proressive encephalomyelitis with rigidity and myoclonus glycine and NMDA receptor antibodies. Neurology 2011; 77(5). 4. Ueno S, et al. Successful immune moderation treatment for progressive encephalomyelitis with rigidity and myoclonus. Intern Med 2015; 54: 219-221.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/progressive-encephalomyelitis-with-rigidity-and-myoclonus-in-a-mexican-patient/