Katı Kişi Sendromu, Bir Olgu

Stiff-person syndrome (SPS) is an autoimmune disease emerged by lack of inhibition to excitatory neurotransmitters in the central neurveus system often due to antibodies against glutamic acid decorboxylase (GAD). Fluctuating and progresive muscle rigidity, spasms and also stiffness are common manifestations. The pathophysiology of SPS is not fully understood but however, high titres of anti-GAD antibodies are strongly associated with this syndrome and immunological treatment helps to improve the rigidity, painfully spasms and stiffness. Here we present a case of a 61 years old female patient diagnosed with positive anti-GAD65 antibodies SPS. In the context of a severely disabling disease manifestation, we analyse the case presentation and treatment strategies.A 61-year-old female patient pesented with recent falls, muscle contractions and pain in the lower extremities. Neurological examination revealed severe rigidity and painfull spasms of the lower extremities and reactive spasms to touch were present. Full blood count, routine biochemistry, CSF analyze were normal. Electromyography (EMG) demonstrated a continuous motor unit activity of whole lower extremity muscles. According to EMG findings our preliminary diagnosis was Stiff Person Syndrome. Anti-GAD antibodies were detected positive. This finding reinforced the diagnosis of anti-GAD-associated stiffperson syndrome. Diazepam, clonazepam, plasmapheresis and alsointaveneus immun globulin was administered step by step. She did not get any significant benefit from any of treatments. Treatment with rituximab was planned but the patient was admitted to the intensive care unit due to pulmonary embolism and respiratory distress caused by COVID infection. Unfortunately, Rituximab could not be administered due to the patient's poor general condition.SPS remains an important consideration in the differential diagnosis of muscle stiffness. It is important to perform. Detailed investigations are essential to determine whether an underlying cause exists.