Atypical presentation of Stiff Person syndrome: case report

Abstract

Introduction: Stiff Person syndrome (SPS) is a rare, immune-mediated neurological disease related to several antibodies, the most obvious being Antiglutamic acid decarboxilase (GAD). This case intends to show atypical clinical presentation of Stiff Person Syndrome, in which the patient started with ataxia and gait alteration, evolving with dimidiated spasms. Case report: L.S.M, male, 58 years old, denied previous comorbidities, smoking and alcoholism. He woke up with vertigo, associated with dysarthria and ataxia in the left side of the body. Two weeks after the onset of symptoms, he evolved with gait alteration and began to have episodes of painful, intermittent muscle spasms in the left upper and lower limbs. He presented negative serology for human immunodeficiency virus, syphilis and viral hepatitis, in addition to nonreagent rheumatological markers. Magnetic resonance imaging revealed a focus of signal alteration affecting the corticosubcortical surface of the cingulate gyrus on the right side, possibly corresponding to an inflammatory/demyelinating process. Cerebrospinal fluid analysis showed the presence of oligoclonal bands and anti-GAD reagent, with non-reactive anti-aquaporin 4. Discussion: The typical symptomatology of SPS involves the musculoskeletal component, representing up to close to 93% of the symptoms referred by the patients. Among other predominant symptoms, pain (82%) and bulbar dysfunction (47%) stand out. Some patients may have atypical symptoms, especially during the onset of symptoms. The case exposes the predominance of vertigo and ataxic symptoms, unusual for this stage of SPS, which may lead to difficulties in the investigation. Conclusion: Recognizing the atypical patterns of clinical presentation is an important responsibility of the neurologist, since early diagnostic elucidation is essential for defining the patient’s prognostic determination therapy.