An atypical Stiff Person Syndrome patient presenting with epileptic seizures, brainstem involvement, and muscle stiffness of the lower body- a case report
Abstract
Stiff Person syndrome (SPS) is a rare autoimmune neurological disorder presenting painful muscle spasms, and stiffness targeting mainly lower limbs, lower back, and abdomen. Antibodies such as Anti-GAD can be found positive. Electromyography is a valuable tool for diagnosing SPS, showing simultaneous contractions of the agonistic and the antagonistic muscle groups. Here in this case study, we present a 40-year-old male with SPS, presenting with usual symptoms of SPS like lower limb and lower back stiffness and painful muscle spasms, but unusual symptoms as well, like epileptic seizures, high amount of sweating and itching, difficulty in swallowing and urinary-stool retention. EMG findings were correlated with SPS, and anti-GAD levels were found positive. After Intravenous immunoglobulin treatment, the patient had a complete remission. In this paper, we will look at the unusual symptoms and findings in the SPS, and the important place of electromyography in diagnosing this disorder.
References
- Stiff-person Syndrome and GAD Antibody-spectrum Disorders: GABAergic Neuronal Excitability, Immunopathogenesis and Update on Antibody Therapies. Marinos C. Dalakas https://doi.org/10.1007/s13311-022-01188-w
- Neurological Syndromes Associated with Anti-GAD Antibodies. Maëlle Dade, Giulia Berzero, Cristina Izquierdo, Marine Giry, Marion Benazra, Jean-Yves Delattre, Dimitri Psimaras, Agusti Alentorn, PMCID: PMC7279468 PMID: 32456344
- Stiff person syndrome spectrum disorders; more than meets the eye. Scott D. Newsome, Tory Johnson https://doi.org/10.1016/j.jneuroim.2022.577915
- Seizure semiology and predictors of outcomes in Chinese patients with glutamic acid decarboxylase antibody-associated neurological syndrome. Nan Lin, Lin Bai, Qing Liu, Jianhua Chen, Haitao Ren, Hongzhi Guan, Qiang Lu PMCID: PMC10088211 PMID: 37041500
- Gastrointestinal and Urologic Sphincter Dysfunction in Stiff Person Syndrome. Dumitrascu, Oana M. MD, MS; Tsimerinov, Evgeny I. MD, PhD; Lewis, Richard A. MD Journal of Clinical Neuromuscular Disease 18(2):p92-95,December 2016.| DOI: 10.1097/CND.0000000000000143
- Paraneoplastic Neurologic Syndromes: Rare But More Common Than Expected Nine Cases with a Literature Review Hülya Uluğut Erkoyun, Sevgin Gündoğan, Yaprak Seçil, Yeşim Beckmann, Tülay Kurt İncesu, Hatice Sabiha Türe, Galip Akhan DOI:10.4274/tnd.05900 Turk J Neurol 2018;24:63-69
- Stiff-Person Syndrome: A Treatment Update and New Directions Juan Fernando Ortiz, Mohammad R Ghani, Álvaro Morillo Cox, Willians Tambo, Farah Bashir, Martín Wirth, Gustavo Moya DOI: 10.7759/cureus.11995
Epileptik nöbetler, beyin sapı tutulumu ve alt vücudun kas sertliği ile seyreden atipik Stiff Person Sendromu - bir olgu sunumu
Abstract
Stiff Person Sendromu (SPS), genellikle alt ekstremiteler, bel ve karın bölgesine yönelik ağrılı kas spazmları ve sertlik ile kendini gösteren nadir bir otoimmün nörolojik hastalıktır. Anti-GAD gibi antikorlar pozitif bulunabilir. Elektromiyografi, SPS tanısında değerli bir araçtır ve agonist ve antagonist kas gruplarının eş zamanlı kasılmalarını gösterir. Bu olgu çalışmasında, SPS ile başvuran 40 yaşında bir erkek hasta sunulmuştur. Hasta, SPS'nin tipik belirtileri olan alt ekstremite ve bel sertliği ile ağrılı kas spazmlarının yanı sıra; epileptik nöbetler, aşırı terleme ve kaşıntı, yutma güçlüğü ve idrar–dışkı tutamama gibi alışılmadık semptomlar da göstermekteydi. EMG bulguları SPS ile uyumluydu ve anti-GAD seviyeleri pozitif bulunmuştu. İntravenöz immünoglobulin tedavisinin ardından hasta tam bir remisyon sağladı. Bu sunumda, SPS'deki alışılmadık semptomlar ve bulgular ile bu hastalığın tanısında elektromiyografinin önemli rolüne değinilecektir.
References
- Stiff-person Syndrome and GAD Antibody-spectrum Disorders: GABAergic Neuronal Excitability, Immunopathogenesis and Update on Antibody Therapies. Marinos C. Dalakas https://doi.org/10.1007/s13311-022-01188-w
- Neurological Syndromes Associated with Anti-GAD Antibodies. Maëlle Dade, Giulia Berzero, Cristina Izquierdo, Marine Giry, Marion Benazra, Jean-Yves Delattre, Dimitri Psimaras, Agusti Alentorn, PMCID: PMC7279468 PMID: 32456344
- Stiff person syndrome spectrum disorders; more than meets the eye. Scott D. Newsome, Tory Johnson https://doi.org/10.1016/j.jneuroim.2022.577915
- Seizure semiology and predictors of outcomes in Chinese patients with glutamic acid decarboxylase antibody-associated neurological syndrome. Nan Lin, Lin Bai, Qing Liu, Jianhua Chen, Haitao Ren, Hongzhi Guan, Qiang Lu PMCID: PMC10088211 PMID: 37041500
- Gastrointestinal and Urologic Sphincter Dysfunction in Stiff Person Syndrome. Dumitrascu, Oana M. MD, MS; Tsimerinov, Evgeny I. MD, PhD; Lewis, Richard A. MD Journal of Clinical Neuromuscular Disease 18(2):p92-95,December 2016.| DOI: 10.1097/CND.0000000000000143
- Paraneoplastic Neurologic Syndromes: Rare But More Common Than Expected Nine Cases with a Literature Review Hülya Uluğut Erkoyun, Sevgin Gündoğan, Yaprak Seçil, Yeşim Beckmann, Tülay Kurt İncesu, Hatice Sabiha Türe, Galip Akhan DOI:10.4274/tnd.05900 Turk J Neurol 2018;24:63-69
- Stiff-Person Syndrome: A Treatment Update and New Directions Juan Fernando Ortiz, Mohammad R Ghani, Álvaro Morillo Cox, Willians Tambo, Farah Bashir, Martín Wirth, Gustavo Moya DOI: 10.7759/cureus.11995
Details
| Primary Language | English |
|---|---|
| Subjects | Neurology and Neuromuscular Diseases |
| Journal Section | Case Reports |
| Authors | |
| Publication Date | June 10, 2025 |
| Submission Date | February 10, 2025 |
| Acceptance Date | March 24, 2025 |
| Published in Issue | Year 2025 Volume: 64 Issue: 2 |
