53
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Stiff-Person Syndrome: Seeing Past Comorbidities to Reach the Correct Diagnosis

      case-report

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Stiff-person syndrome (SPS) is a rare disorder seen in approximately one in one million people. Although it is rare, the symptoms and findings of a typical case should paint a clear clinical picture for those who are familiar with the disease. The primary findings in SPS include progressive axial muscle rigidity as well as muscle spasms. These symptoms most commonly occur in the setting of antibodies against Glutamic Acid Decarboxylase (GAD), the rate-limiting enzyme in the production of Gamma-Aminobutyric Acid (GABA), which is the primary inhibitory enzyme in the central nervous system. Here, we report the case of a 65-year-old African-American female with a past medical history of hypothyroidism, anxiety, and depression with psychotic features who presented with axial muscle rigidity and lactic acidosis. She had been symptomatic for several months and reported extensive workups performed at two previous hospitals without a definitive diagnosis. A complete neurological and musculoskeletal investigation yielded no positive findings except for the presence of GAD antibodies. The patient was treated with diazepam, tizanidine, and Intravenous Immunoglobulin (IVIG) with significant improvement, thus solidifying the diagnosis of SPS, a rare autoimmune and/or paraneoplastic syndrome.

          Related collections

          Most cited references13

          • Record: found
          • Abstract: found
          • Article: not found

          Stiff-man syndrome and variants: clinical course, treatments, and outcomes.

          Little information is available about the incidence of stiff-man syndrome (SMS) (the classic form or its variants) or about long-term treatment responses and outcomes. To comprehensively describe the characteristics of a cohort of patients with SMS. Observational study. Mayo Clinic, Rochester, Minnesota. Ninety-nine patients with classic SMS vs variants of the disorder, both glutamic acid decarboxylase 65 kD isoform (GAD65) antibody seropositive and seronegative. Neurological, autoimmune, serological, and oncological findings; treatments; and outcomes between January 1984 and December 2008. The median follow-up duration was 5 years (range, 0-23 years). Seventy-nine patients (59 having classic SMS, 19 having partial SMS, and 1 having progressive encephalomyelitis with rigidity and myoclonus [PERM]) were GAD65 antibody seropositive. Sixty-seven percent (53 of 79) of them had at least 1 coexisting autoimmune disease, and 4% (3 of 79) had cancer. GAD65 antibody values at initial evaluation were significantly higher among patients with classic SMS (median value, 623 nmol/L) than among patients with partial SMS (median value, 163 nmol/L) (P < .001). The initial GAD65 antibody value was positively correlated with the last follow-up Rankin score (P = .03). Among 20 patients who were GAD65 antibody seronegative (6 with classic SMS, 12 with partial SMS, and 2 with PERM), 15% (3 of 20) had at least 1 coexisting autoimmune disease, and 25% (5 of 20) had cancer (3 with amphiphysin autoimmunity and breast carcinoma and 2 with Hodgkin lymphoma). Excluding patients with PERM, all patients but 1 had sustained improvements with at least 1 γ-aminobutyric acid agent, usually diazepam; the median dosage for patients with classic SMS was 40.0 mg/d. Additional improvements occurred among 14 of 34 patients (41%) who received immunotherapy (intravenous immune globulin, azathioprine, prednisone, mycophenolate mofetil, or cyclophosphamide). Sixteen of 25 patients (64%) with extended follow-up duration remained ambulatory. Recognition of classic SMS vs variants is important because appropriate therapy improves symptoms in most patients. Classification by anatomical extent and by GAD65 antibody serostatus gives important diagnostic and prognostic information.
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Amphiphysin autoimmunity: paraneoplastic accompaniments.

            Amphiphysin-IgG was identified in 71 patients among 120,000 evaluated serologically for paraneoplastic autoantibodies. Clinical information was available for 63 patients. Cancer was detected in 50 (mostly limited), proven histologically in 46, and was imaged intrathoracically in 4 patients (lung, small-cell [27] and non-small cell [1]), breast [16] and melanoma [2]). Neurological accompaniments included (decreasing frequency): neuropathy, encephalopathy, myelopathy, stiff-man phenomena, and cerebellar syndrome. In a case examined neuropathologically, parenchymal T-lymphocyte infiltration (predominantly CD8(+)) was prominent in lower brainstem, spinal cord, and dorsal root ganglion. Coexisting paraneoplastic autoantibodies, identified in 74% of patients, predicted a common neoplasm and indicated other neuronal autoantigen targets that plausibly explained several neurological manifestations; for example, P/Q-type Ca(2+)-channel antibody with Lambert-Eaton syndrome (n = 5), anti-neuronal nuclear antibody type 1 with sensory neuronopathy (n = 7), K(+)-channel antibody with limbic encephalitis (n = 1) or neuromyotonia (n = 1), and collapsin response-mediator protein-5-IgG with optic neuritis (n = 3). Patients with isolated amphiphysin-IgG (n = 19) were more likely to be women (with breast cancer, p < 0.05) and to have myelopathy or stiff-man phenomena (p < 0.01). Overall, a minority of women (39%) and men (12%) had stiff-man phenomena. Only 10% of women (some with lung carcinoma) and 4% of men fulfilled diagnostic criteria for stiff-man syndrome.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Stiff person syndrome: advances in pathogenesis and therapeutic interventions.

              Stiff person syndrome (SPS) varies from mild to severe, but if untreated it can be progressive and disabling. Although progress has been made in understanding and treating SPS, the disease remains underdiagnosed, delaying treatment. Antibodies against glutamic acid decarboxylase provide an excellent diagnostic marker, but their role in disease pathogenesis is uncertain. Research focused on identifying new autoantigens has provided evidence that gamma-aminobutyric acid (GABA)(A) receptor-associated protein (GABARAP), a 14-kD protein localized at the postsynaptic regions of GABAergic synapses, is an antigenic target. Circulating anti-GABARAP antibodies that inhibit GABA(A) receptor expression on GABAergic neurons have been found in up to 65% of SPS patients. The impairment of GABAergic pathways and reduction of brain GABA results in clinical manifestations of stiffness, spasms, and phobias. Increased awareness of SPS among practicing physicians is necessary to recognize the disease early and prevent permanent disability. Most patients with SPS respond to GABA-enhancing drugs, but the high doses required cause unacceptable adverse effects. The disease clearly responds to intravenous immunoglobulin, but repeated infusions are needed to maintain response. New immunomodulating agents are being explored to treat difficult cases and to induce long-lasting remissions.
                Bookmark

                Author and article information

                Contributors
                Journal
                Case Rep Neurol Med
                Case Rep Neurol Med
                CRINM
                Case Reports in Neurological Medicine
                Hindawi
                2090-6668
                2090-6676
                2021
                31 January 2021
                : 2021
                : 6698046
                Affiliations
                1Base Medical Student, Ascension Genesys Hospital, Grand Blanc, Michigan, USA
                2Department of Internal Medicine, Ascension Genesys Hospital, Grand Blanc, Michigan, USA
                Author notes

                Academic Editor: Peter Berlit

                Author information
                https://orcid.org/0000-0003-0768-6976
                https://orcid.org/0000-0002-9870-0982
                https://orcid.org/0000-0002-3908-2264
                Article
                10.1155/2021/6698046
                7868164
                33604090
                ffc8135c-a51d-4776-907b-bffe20f5a246
                Copyright © 2021 Jared Hicken et al.

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 5 November 2020
                : 21 January 2021
                Funding
                Funded by: Department of Research at Ascension Genesys Hospital
                Categories
                Case Report

                Comments

                Comment on this article

                scite_
                4
                0
                0
                0
                Smart Citations
                4
                0
                0
                0
                Citing PublicationsSupportingMentioningContrasting
                View Citations

                See how this article has been cited at scite.ai

                scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.

                Similar content141

                Cited by4

                Most referenced authors88