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Stiff Person Syndrome, partial variant, in a 12-year-old patient –a case report

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Case Presentation:A.S.S, 12 years old healthy male, reports burning back pain and lack of control of the lower limbs, unable to move them. Evolved with sustained muscle contraction of the left hemiabdome and left lower limb. He denies urinary or gastrointestinal alterations or concomitant and previous infectious symptoms. He also denies recent vaccinations. On physical examination, spastic paresis of the left abdomen and left lower limb, pronator deviation of the left foot, and a left hemiparetic espastic gait. Magnetic resonance imaging of all central nervous system was not remarkable except for the dubious enhancement of some lumbar roots inside the dural sac, which may be related to radiculitis. Non-reactive antiGAD, non-reactive serology, unavailable anti-MOG and aldolase 13,3. Eletroneuromiography (ENMG) showed persistent and continuous muscle action potentials in the rectus abdominis muscles, and the muscles of the left lower limb without relaxation. The patient was treated with muscle relaxants, benzodiazepines, and physical therapy.Discussion:Stiff person syndrome (SPS) is a rare entity characterized by painful muscle stiffness associated with muscle spasms1. It is a rare neuromuscular disorder that affects about one to two cases per million, primarily affecting adults aged 20 to 50 years, with women being affected about two to three times more than men. It is infrequent to occur during childhood1,2. The association of autoantibodies against glutamic acid decarboxylase (anti-GAD) is found in about 60 to 80% of cases. It can be subdivided into three clinical forms: Classic, Partial and Paraneoplastic Variant.Comments:The exposed case shows us a rare syndrome in a patient with atypical epidemiology and an even more unusual presentation. Furthermore, the lack of association with autoantibodies makes this case even more unusual, making the diagnosis possible only with ENMG.

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Doenças Neuromusculares