Naslov
Progressive encephalomyelitis with rigidity and myoclonus - a case report

Autori
Nanković, Sibila ; Hajnšek, Sanja ; Šulentić, Vlatko ; Bilić, Ervina ; Petelin Gadže, Željka ; Kovačević, Ivana ; Bujan Kovač, Andreja

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Neurologia Croatica / Lušić, Ivo ; Bilić, Ivica ; Džamonja, Gordan - Zagreb : Denona, 2013, 89-90

Skup
VI. hrvatski neurološki kongres s međunarodnim sudjelovanjem

Mjesto i datum
Split, Hrvatska, 06.11.2013. - 10.11.2013

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
progressive encephalomyelitis; rigidity; myoclonus

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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