Spectrum of stiff-person syndrome: Case series from a hospital of national importance

Abstract

Introduction: Stiff person syndrome (SPR), a rare disease of the central nervous system with immune-mediated pathophysiology. Associated with anti-GAD antibodies (80%) and other autoimmune pathologies such as DM2 and hyperthyroidism. Clinically characterized by predominantly axial and peripheral muscle rigidity, exacerbated muscle spasms to tactile or auditory stimuli, and psychiatric disorders. Diagnosis is challenging; however, it is clinical. Favorable response to benzodiazepine and immunoglobulin therapeutics supports the stated diagnosis.

Cases presentation: We present 3 cases of women attended at a referral hospital, Lima-Peru; mean age 40 years. Clinical presentation characterized by stiffness predominantly in the lower limbs, hyperreflexia, pain with functional limitation in walking, muscle spasms. They have a history of hyperthyroidism and vitiligo, in addition to psychiatric disorders, especially anxiety. All met clinical criteria and two cases met laboratory criteria as ANTI-GAD65 positive; broad differential diagnoses were performed. All received immunoglobulin and benzodiazepines with favorable response.

Discussion: SPR, a rare and immune-mediated clinical entity of subacute onset characterized by muscle stiffness and spasms, which are sudden and precipitated. The 3 cases in mention presented this clinical picture, and response to immunomodulatory treatment. Reports of this entity are scarce.

Conclusions: We present a series of cases of the spectrum of PRRS from a National Reference Hospital, of which 2 patients presented ANTI GAD65 and characteristic clinical picture, with adequate differential diagnosis and medical treatment that was evidenced with favorable clinical response. Knowledge of this pathology is of great importance to improve the prognosis and quality of life of these patients.