title: Gastrointestinal and Urologic Sphincter Dysfunction in Stiff Person Syndrome.
abstract: OBJECTIVE
  Stiff person syndrome is a neurologic disorder characterized by axial rigidity leading to progressive disability, with broad clinical spectrum.
  
  
  METHODS
  We report 2 cases with unique clinical presentation.
  
  
  RESULTS
  Two young men suffered progressive urinary retention requiring bladder catheterization, anorectal spasms and constipation, complicated subsequently with lower extremity trigger-induced spasms, and gait instability. Associated symptoms revealed brainstem involvement (vertigo, diplopia, and cranial neuropathies) and dysautonomia (abnormal sweating and orthostatic hypotension). Anal manometry demonstrated incomplete relaxation of the anal sphincter. The first case was associated with diabetes mellitus type I, did not respond to classical therapies, but was responsive to rituximab. The second case responded to intravenous immunoglobulin infusions. Paraneoplastic profiles were negative, and anti-GAD65 antibody titers remained elevated despite successful therapeutic responses.
  
  
  CONCLUSIONS
  We want to raise awareness that stiff person syndrome can present with esophageal, anorectal, and urethral sphincter disturbance. Rituximab is a good therapeutic option in intractable cases.
authors.affiliation: Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA.
authors.forename: Oana M
authors.initials: OM
authors.lastname: Dumitrascu
authors.forename: Evgeny I
authors.initials: EI
authors.lastname: Tsimerinov
authors.forename: Richard A
authors.initials: RA
authors.lastname: Lewis
mesh_terms: D000328:Adult; D001003:Anal Canal / Q000503:physiopathology*; D041981:Gastrointestinal Tract / Q000503:physiopathology*; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007155:Immunologic Factors / Q000627:therapeutic use; D008297:Male; D054969:Primary Dysautonomias / Q000209:etiology / Q000503:physiopathology*; D000069283:Rituximab / Q000627:therapeutic use; D016750:Stiff-Person Syndrome / Q000150:complications / Q000188:drug therapy / Q000503:physiopathology*; D016896:Treatment Outcome; D014521:Urethra / Q000503:physiopathology*; D016055:Urinary Retention / Q000209:etiology / Q000503:physiopathology*
chemical_list: D016756:Immunoglobulins, Intravenous; D007155:Immunologic Factors; D000069283:Rituximab