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Progressive encephalomyelitis with rigidity and myoclonus - a case report

Progressive encephalomyelitis with rigidity and myoclonus (PERM) or a “jerking stiff -man syndrome” was initially reported in 1976 and represents a severe and rapidly progressive form of SPS (stiff -person syndrome). A clinical manifestation of PERM resembles SPS – a progressive disabling muscle rigidity, hyperreflexia and spasms affecting especially the lumbar and/or proximal limb muscles with the additional occurrence of spontaneous and stimulus-sensitive myoclonus and epileptic seizures. Spasms and generalized myoclonus may be accompanied by profuse sweating and other manifestations of dysautonomia. In almost 90% of the patients, CSF and serum levels of anti-GAD antibodies are elevated. Electromyoneurography (EMG) may be helpful when detecting typical patterns of continuous low-frequency firing in agonist and antagonist muscles units. A 28-year-old male patient with prior history of Polyglandular autoimmune disease type I (PGAD) presented initially with muscle spasms, inappetence, generalized weakness and anxiety. Two weeks later, he started having generalized tonic seizures that evolved into an epileptic status (SE), following with a generalized myoclonus additionally provoked by stimuli and muscle rigidity. Serum anti-GAD antibody levels were 3729 IU/ml, and EMG findings were inconclusive. Cerebrospinal fluid (CSF) showed lymphocytic pleocytosis with elevated IgG and positive oligoclonal bands. The introduction of antiepileptic drugs (AED) - LEV, CNZ, VPA led to seizure freedom and after 5 cycles of plasmapheresis to a significant clinical improvement and disappearance of muscle rigidity. PERM is a rare form of SPS, which is additionally presented with epileptic seizures and dysautonomia. Adequate immunomodulatory treatment along with AEDs can lead to clinical improvement and seizure freedom.

progressive encephalomyelitis; rigidity; myoclonus

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