STIFF PERSON SYNDROME (MOERSCH-WOLTMAN)
Autori:
Denis Čerimagić, Ervina Bilić
Sažetak
Sažetak. Cilj ovog članka je dati pregled znanstveno potvrđenih spoznaja o epidemiologiji, genetici, etiopatogenezi, kliničkoj slici, dijagnostici i liječenju sindroma ukočene osobe. Sindrom je karakteriziran progresivnim mišićnim rigiditetom i bolnim mišićnim spazmima. Tri su oblika ovog sindroma: autoimuni, paraneoplastički i idiopatski. Kod autoimunog oblika verificirana su antitijela na glutamat dekarboksilazu, a kod paraneoplastičke varijante antitijela na presinaptički protein amfifizin i postsinaptički protein gefirin. Dijagnoza se temelji na dijagnostičkim kriterijima (kliničkim, laboratorijskim i elektrofiziološkim) prema Gordonu i Lorishu. Liječenje može biti simptomatsko i imunomodulacijsko (imunosupresijsko). U Republici Hrvatskoj su od 2005. godine publicirana dva prikaza slučaja ovog sindroma. Iako rijedak, ovaj je sindrom od kliničkog značenja, osobito uzevši u obzir postojanje paraneoplastičke varijante te osobitosti anesteziološkog pristupa kod pacijenata s ovom bolesti.
Summary
Summary. The prime goal of this paper is to offer an overview of main scientific points in epidemiology, genetics, pathogenesis, clinical course and therapeutic strategies in stiff person syndrome (SPS). This syndrome is characterized by progressive muscle rigidity and painful muscle spasms. Three major forms of SPS are described, according to the pathophysiologic basis, autoimmune, paraneoplastic and idiopathic SPS. In autoimmune form of SPS the antibodies are specific for an enzyme (glutamic acid decarboxylase, GAD). If the paraneoplastic form takes place, the antibodies may be specific for presynaptic (amphyphysin) or the postsynaptic protein (gephyrin). The SPS diagnosis should be based on clinical, laboratory and electromyoneurographic criteria, according to Gordon and Lorish. The therapeutic approaches are focused on symptomatic therapy managing the muscle spasm and on possible immunomodulatory procedures to attenuate an autoimmune reaction. Two cases of SPS are reported in the Republic Croatia since 2005. Although it is a rare medical condition, SPS is of clinical importance, especially because it may be the first sign of an underlying undiagnosed malignant disease or if the anesthesia is necessary in SPS patient.
