A Case of Stiff-Person Syndrome: An Elusive Diagnosis

Dennis L. College, MD, FCCP* and Joshua Colin Vessey, MD, MPH, Duke Regional Hospital, Durham, NC

Meeting: Hospital Medicine 2016, March 6-9, San Diego, Calif.

Abstract number: 476

Categories: Adult, Clinical Vignettes Abstracts

Keywords: , , ,

Case Presentation:

A generally healthy 36 year old female began experiencing stiffness in her lower back with persistent aching pain. The discomfort progressively worsened over several weeks prompting multiple emergency room visits. She began to complain of severe leg spasm at the time of her admission to the hospital. Her CPK level was markedly elevated suggesting rhabdomyolysis. Suspicion for cauda equina syndrome was raised, but an MRI of the lumbar spine was unremarkable. The cause of her disabling illness remained a mystery despite neurology consultation. An MRI of the brain revealed white matter lesions consistent with the patient’s known history of prior viral meningitis. A lumbar puncture was performed without evidence of active infection. However, increased oligoclonal IgG antibody bands were present in the cerebrospinal fluid. An extensive autoimmune panel was negative except for anti-glutamic acid decarboxylase (anti-GAD) antibodies, which were markedly elevated. This finding was thought to be consistent with stiff-person syndrome. A muscle biopsy was obtained but these findings provided no evidence for an alternative neuromuscular diagnosis. The patient’s muscle spasm was treated with diazepam but due to side effects this was changed to baclofen. Intravenous and oral methylprednisolone was used, with some success. However, symptoms reoccurred after steroid treatment, and she was started on IVIG. She gained partial improvement and was transitioned to an acute rehabilitation center. 

Discussion:

Stiff-person syndrome previously called stiff-man syndrome is a rare disease associated with progressive muscle spasm, stiffness and rigidity ultimately resulting in severely impaired mobility (1,2). The syndrome appears to be an autoimmune process. Solimena et al described the pathogenesis of this syndrome by identifying autoantibodies against GAD, an enzyme found in the central nervous system involved in the synthesis of an inhibitory neurotransmitter, GABA (4). Polyclonal and oligoclonal IgG antibody elevations are present in the cerebrospinal fluid (3). High concentrations of circulating anti-GAD antibodies are present in 60 % of these patients. Treatment with the GABA agonists diazepam or baclofen can be helpful to ameliorate some of the symptoms. Steroid and intravenous immune globulin therapy should be considered in severe cases.

Conclusions:

 In view of the rare occurrence of this syndrome establishing a definitive diagnosis can be difficult. Only 150 cases have been reported in the literature from the 1960s through the 1990s (1). The primary presentation is that of severe muscle stiffness, rigidity and spasm. The characteristic stiff gait has been linked to that of Frankenstein’s monster (4). Women are affected more than men and symptoms usually begin between 30 and 70 years of age. The definitive diagnosis can be established by lumbar puncture and/or testing for anti-GAD antibodies in the serum. The prognosis may be poor with a functional decline noted over time.

References

  1. Helfgott SM. Stiff-man Syndrome: from the bedside to the bench. Arthritis Rheum 1999; 42:1312.
  2. Shaw PJ. Stiff-man syndrome and its variants. Lancet 1999; 353:86
  3. Soliimena M, Folli F, Aparisi R, et al. Auto antibodies to GABA-ergic neurons and pancreatic beta cells in stiff-man syndrome. N Engl J Med 1990; 322: 1555.
  4. Solimena M, Folli F, Denis-Donini S, et al. Autoantibodies to glutamic acid decarboxylase in a patient with stiff-man syndrome, epilepsy and type 1 diabetes mellitus. N Engl J Med 1988; 318: 1012.

To cite this abstract:

College DL, Vessey JC. A Case of Stiff-Person Syndrome: An Elusive Diagnosis. Abstract published at Hospital Medicine 2016, March 6-9, San Diego, Calif. Abstract 476. https://www.shmabstracts.com/abstract/a-case-of-stiff-person-syndrome-an-elusive-diagnosis/. Accessed December 10, 2018.

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