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Int J Surg Case Rep
Int J Surg Case Rep
International Journal of Surgery Case Reports
2210-2612
Elsevier

S2210-2612(24)00935-0
10.1016/j.ijscr.2024.110154
110154
Case Report
Atraumatic hip fracture due to stiff person syndrome: Case report and literature review
Ebrahimpour Adel a
Biglari Farsad a
Salari Mehri b
Sadighi Mehrdad a
Aali-Rezaie Arash c
Kafiabadi Meisam Jafari dr.jafari8567@yahoo.com
ad⁎
a Department of Orthopedic Surgery, Clinical Research Development Unit of Shohada-e Tajrish Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
b Functional Neurosurgery Research Center, Shohada Tajrish Comprehensive Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran
c Ahwaz Jondi Shapour University of Medical Sciences. Golestan, Ahwaz, Khuzestan, Iran
d Physiotherapy Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
⁎ Corresponding author at: Department of Orthopedic Surgery, Shohada-e Tajrish Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. dr.jafari8567@yahoo.com
10 8 2024
9 2024
10 8 2024
122 11015415 7 2024
3 8 2024
8 8 2024
© 2024 The Author(s)
2024
https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Introduction and importance

Stiff person syndrome (SPS) is a rare autoimmune disorder that affects the central nervous system. Patients with this condition may experience sudden muscle spasms, leading to falls and subsequent fractures. Diagnosis is based on clinical presentation, the presence of anti-GAD antibodies, and electromyography (EMG) findings that show continuous motor unit activity. However, there have been few reports of atraumatic fractures in these patients.

Case presentation

In this article, we present a case of a patient with stiff person syndrome who sustained an intertrochanteric fracture without any prior history of trauma. Additionally, we review and discuss previous literature on this subject.

Clinical discussion

SPS is a rare autoimmune neurological disease with muscle rigidity and spasms predominantly in the trunk and lower limbs. The authors mentioned that SPS diagnosis and managing related fractures could be challenging. They recommended optimizing the patient's status with proper medical treatments before surgical interventions to reduce further complications.

Conclusion

In conclusion, it appears that stiff person syndrome can lead to recurrent and even atraumatic fractures, and should be considered as an underlying cause. Additionally, uncontrolled spasms in these patients can result in the failure of previous surgical fixations and complicated surgical management. To prevent surgical complications, it is crucial to initiate and maintain appropriate medical treatment to control spasms as soon as the underlying disease is diagnosed.

Highlights

• Stiff person syndrome (SPS) is a rare autoimmune disorder that affects the central nervous system.

• Stiff person syndrome can lead to recurrent and even atraumatic fractures.

• Initiating and maintaining appropriate medical treatment to control spasms as soon as the underlying disease is diagnosed is crucial.

Keywords

Fracture
Hip
Intertrochanteric
Pain
Stiff person syndrome
Trauma
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pmc1 Introduction

Stiff person syndrome (SPS) is a rare progressive autoimmune neurological disorder with a prevalence of less than 1 per 1 million people. It usually occurs in the fifth decade and is more common among women [1,2]. This rare neurological disease was described and reported by Moersch and Woltman in 1956 for the first time [3]. SPS is characterized by muscle stiffness and episodic spasms due to overstimulation of the central nervous system [1]. Autoantibodies against glutamic acid decarboxylase (GAD), γ-aminobutyric acid (GABA)-synthesizing enzyme, are responsible for the reduction of GABA and subsequently causing SPS [1,4]. The onset of symptoms is commonly imperceptible and ambiguous. Preliminary symptoms usually included intermittent pain and stiffness in the paraspinal, and abdominal muscles. Over time, muscle stiffness in the lower extremities spreads asymmetrically through the proximal muscles. Gradually the symptoms become constant. The severity of symptoms varies from disability in severe cases to mild symptoms. In 65 % of cases, the patient cannot carry out daily activities. Severe stiffness, unpredictable and frequent spasms, and sudden falls are the most important causes of disability in these patients. In rare cases, vigorous spasms could lead to fractures or dislocations. Treatment aims to manage symptoms and may include medications such as benzodiazepines, baclofen, and immunosuppressants. In some cases, intravenous immunoglobulin (IVIG) and plasmapheresis are also used [2,4]. The course of SPS can vary. Some patients respond well to treatment and experience significant symptom relief, while others may have a more refractory form of the disease. Herein, we reported a rare early manifestation of SPS in a 53-year-old woman with a history of repeated fractures, failure of a fixation device, and severe spasms in her lower limbs. The work has been reported in line with the SCARE criteria [5].

2 Case presentation

A 57-year-old female with a history of recurrent fractures in the past two years due to frequent falls was admitted to the emergency department. She complained of progressive bilateral hip and leg pain several months ago and inability to walk from the last night. There was no history of recent trauma or falls. In physical examination, both lower limbs were externally rotated with tenderness in the proximal femur area. Radiologic examinations revealed an intertrochanteric fracture at the right side and device failure of a previous left hip fracture. Furthermore, avulsion fractures of the greater trochanter on both sides were obvious (Fig. 1). The patient was surgically treated because of the right distal radius fracture due to falls two years ago, and six months after that fell again, and the left side distal radius was broken and surgically treated. The left side intertrochanteric fracture (OTA-A2) occurred six months later due to a further fall. It was surgically fixed with a cephalomedullary nail. During the post-operative period, she complained frequently of bilateral lower limb pain and spasms, but it was considered a result of fracture and muscle weakness. Physiotherapy and analgesics were prescribed, and the patient was followed. However, the pain progressed so that she could not walk anymore. During the last six months, she had no history of further trauma. Rigidity was detected clinically in lower limbs without involvement of trunk muscles, but the reason for this rigidity was unclear. Neurological assessment started with clinical exams. The only finding was rigidity in lower limb muscles. Other neurologic examinations such as deep tendon reflex, and sensory and motor function were normal. The assessment was continued with the blood level of muscle enzymes, EEG, EMG-NCS, CSF analysis, and brain and whole spine MRI. The blood level of muscle enzymes was in the normal range. On EEG assessment, we couldn't find anything regarding epileptic attacks. NCS results were grossly normal, and electromyography showed bilateral continuous motor unit activity in agonist and antagonist lower limb muscles. There was no significant finding on brain and spine MRI. The level of anti-GAD 65 antibodies in serum and CSF was measured by Western blot which was significantly high. According to Dalaka's criteria, the patient was considered a case of SPS. The breast physical examination was done, and chest and abdominal CT scans were performed to rule out the paraneoplastic causes of SPS. Finally, the spasmodic attacks were controlled with muscle relaxants (baclofen), the right hip fracture was fixed with a dynamic hip screw, and the left side was treated with hip arthroplasty after removing the cephalomedullary nail. Avulsion fractures of the greater trochanter were managed by fixing with wire on the left and ignored on the right side. Early protected weight bearing started within a week postoperatively and the patient was followed for one year. The six-month rehabilitation course covered gait training and stretching exercises (Fig. 2). Fortunately, the spasmodic attacks are controlled, and the patient walks independently.Fig. 1 Intertrochanteric fracture at the right side and device failure of a previous left hip fracture.

Fig. 1

Fig. 2 6 Months post-operative radiology.

Fig. 2

3 Discussion

SPS is a rare autoimmune neurological disease with muscle rigidity and spasms predominantly in the trunk and lower limbs. Anti-GAD is the cardinal antibody in SPS and inhibits GABA. Inhabitation of GABA consequently causes over-excitation of central nervous system pathways and could lead to muscle imbalance, recurrent falls, and fractures. Furthermore, avulsion fractures may occur because of severe muscle spasms [1,2,4,6]. Spasmodic attacks usually are raised by unexpected noise, light touch, or sudden movement [6]. The current study reported a case of atraumatic hip fracture with failure of fixation in the contralateral hip. The patient was an unknown case of SPS who was diagnosed for the first time after a recent hip fracture. Six months earlier, the contralateral hip fracture occurred due to sudden imbalance, lower limb pain, and falling. Furthermore, bilateral distal radius fractures were occurred and surgically treated during the last year. However, the symptoms were untypical, and SPS was not suspected. Fixation of the fracture was performed with a cephalomedullary nail. In the postoperative period, the patient often complained of resistant pain in the thigh and calf area. Gait status also became progressively worse. Six months postoperatively, sudden bilateral hip pain and lower limb spasms occurred while sleeping. After that, the patient could not walk anymore. The radiographic assessments revealed bilateral greater trochanter avulsion, device failure of the left hip, and intertrochanteric fracture of the right hip. Bilateral avulsion fracture of greater trochanters, besides the continuing patient's complaint of muscle pain and spasms, aroused the suspicion of probable underlying neurologic pathology. We assume that avulsion fracture of greater trochanters could affirm the spasmodic attack of the abductor's muscles. At first, the more discussed diagnosis was an epileptic attack, but further assessments did not support this supposition. Neuropathy, myopathy, motor neuron diseases, and brain stem-related diseases were also clinically, and para clinically ruled out. In clinical exams, rigidity in lower limbs was obvious but we didn't know exactly if this rigidity was caused by neurologic problems or the pain due to fractures. Trunk muscles including abdominal and paraspinal muscles were not involved. The only finding on Electromyography was bilateral continuous motor unit activity in agonist and antagonist lower limb muscles. Analysis of serum and CSF revealed a high level of anti-GAD 65 antibody titer. All these findings were compatible with SPS Dalaka's criteria [1,4,[7], [8], [9]]. Whereas circa 10 % of SPS are due to paraneoplastic activities, especially breast cancer, the patient was clinically, and para clinically carefully examined. SPS also could accompany another autoimmune disease like type-1 diabetes mellitus, thyroiditis, and pernicious anemia up to 35 %. The current patient had no signs and symptoms of other autoimmune diseases. Concerning the concomitancy of orthopedic injuries in these cases, there are few reports about atraumatic injuries in the literature. Jamil et al. reported a case of a 57-year-old male patient with a history of progressive right groin pain and walk disturbance due to an atraumatic right femoral neck fracture. He was a known case of SPS who was treated surgically with total hip arthroplasty. The authors concluded that atraumatic femoral fracture can occur in patients with SPS due to severe muscle spasms and stiffness. Podobinski et al. reported a case of a 47-year-old woman with a history of breast cancer and secondary SPS who was under medical treatment [10]. She was also surgically treated with total hip arthroplasty because of bilateral atraumatic hip fractures. The authors concluded even with widely accepted medical treatment of SPS, refractory spasms may contribute to fractures. In another case report, Sullivan et al. reported a case of a 47-year-old female with an atraumatic posterior proximal humerus fracture dislocation secondary to episodic spasms [1]. She was previously treated as a case of Guillain-Barré syndrome. Further assessments changed the diagnosis to SPS. She was surgically treated with hemiarthroplasty, but the prosthesis was dislocated four weeks postoperatively due to an erratic attack. The patient was surgically retreated with a cemented hemiarthroplasty and repair of the greater and lesser tuberosity. Due to postoperatively shoulder weakness, she was again a candidate for surgical treatment this time with reverse shoulder arthroplasty. The authors mentioned that SPS diagnosis and managing related fractures could be challenging. They recommended optimizing the patient's status with proper medical treatments before surgical interventions to reduce further complications.

4 Conclusion

In conclusion, it appears that stiff person syndrome can lead to recurrent and even atraumatic fractures, and should be considered as an underlying cause. Additionally, uncontrolled spasms in these patients can result in the failure of previous surgical fixations and complicated surgical management. To prevent surgical complications, it is crucial to initiate and maintain appropriate medical treatment to control spasms as soon as the underlying disease is diagnosed.

Patient informed consent

Written informed consent was obtained from the patient for publication and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Ethical approval

No need for approval from an ethics committee for such a type of article (case report). Written informed consent was obtained from the patient for the publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request. Author Form Ethical approval for this study was provided by the Ethical Committee NAC of Shahid Beheshti University of Medical Sciences, Tehran, Iran

Funding

None.

Author contribution

Concept or design of the article and collection of data was performed by Meisam Jafari Kafiabadi, Farsad Biglari, and Adel Ebrahimpour writing the paper with Arash Aali-Rezaie and Mehri Salari, and Mehrdad Sadighi performed consult.

Guarantor

Meisam Jafari Kafiabadi guarantor for this case report.

Research registration number

N/A.

Conflict of interest statement

The author(s) declare no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Acknowledgments

None.
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References

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