Application of ultrasound in a case of eosinophilic fasciitis mimicking stiff-person syndrome.

Eosinophilic fasciitis (EF) is a rare disorder characterized by muscle stiffness mimicking other neuromuscular diseases. The diagnosis of EF is made on the basis of typical skin lesions. We report a case of a 36-year-old male patient with suspected stiff-person syndrome (SPS), who presented with progressive limb muscle stiffness and limited mobility of both wrists without obvious skin changes. Ultrasound revealed fascial thickening of bilateral upper and lower limb muscles and enlargement of hypoechoic tissues around the flexor digitorum tendons of the wrist. Skin and fascia biopsy confirmed the diagnosis of EF. Prednisolone therapy resulted in the improvement of muscle stiffness and tightness. Our findings suggest the need to consider connective tissue diseases such as EF in a patient with atypical features of SPS. Ultrasound is helpful for visualizing the causes of muscle stiffness and joint contractures in EF patients.

Thymoma-Related Stiff-Person Syndrome with Successfully Treated by Surgery.

INTRODUCTION: Stiff-person syndrome (SPS) is a rare autoimmune neurological disorder. Paraneoplastic SPS associated with malignant tumors such as thymoma occurs in approximately 5% of all SPS cases. We present a rare case of thymoma accompanied by SPS successfully treated using surgery. PRESENTATION OF CASE: A 26-year-old woman presented with lower limbs convulsions and gait disturbance and complained of leg pain. Cerebrospinal fluid and blood test results showed a high level of anti-glutamic acid decarboxylase (GAD) antibodies. Computed tomography showed anterior mediastinal tumor suggestive of a thymoma. She underwent extended thymectomy, and her symptoms gradually improved after surgery. No evidence of recurrent thymoma and SPS has been observed over 44 months. CONCLUSION: Surgical treatment would be effective for patients with SPS and thymoma.

Stiff Person Syndrome and Gluten Sensitivity.

Stiff person syndrome (SPS) is a rare autoimmune disease characterised by axial stiffness and episodic painful spasms. It is associated with additional autoimmune diseases and cerebellar ataxia. Most patients with SPS have high levels of glutamic acid decarboxylase (GAD) antibodies. The aetiology of SPS remains unclear but autoimmunity is thought to play a major part. We have previously demonstrated overlap between anti-GAD ataxia and gluten sensitivity. We have also demonstrated the beneficial effect of a gluten-free diet (GFD) in patients with anti-GAD ataxia. Here, we describe our experience in the management of 20 patients with SPS. The mean age at symptom onset was 52 years. Additional autoimmune diseases were seen in 15/20. Nineteen of the 20 patients had serological evidence of gluten sensitivity and 6 had coeliac disease. Fourteen of the 15 patients who had brain imaging had evidence of cerebellar involvement. Twelve patients improved on GFD and in seven GFD alone was the only treatment required long term. Twelve patients had immunosuppression but only three remained on such medication. Gluten sensitivity plays an important part in the pathogenesis of SPS and GFD is an effective therapeutic intervention.

Stiff person spectrum disorders: An illustrative case series of their phenotypic and antibody diversity.

Stiff person spectrum disorders (SPSD) are a broad group of immune-mediated disorders. Clinical presentations include classical stiff person syndrome (SPS), focal SPS, and progressive encephalomyelitis with rigidity and myoclonus (PERM). The most frequently associated antibodies are anti-GAD65, anti-GlyR, anti-amphiphysin, and anti-DPPX. Immunotherapy is the primary treatment modality. We present an illustrative case series of three patients: anti-GlyR antibody-mediated PERM presenting as rapidly progressive dementia; anti-amphiphysin antibody-mediated SPS; and SPS presentation with anti-Zic4 antibodies, spasmodic laryngeal stridor and fluctuating eyelid ptosis. Clinical characteristics, CSF findings, neurophysiological features, adequate immunological assays and a high suspicion index are essential for prompt diagnosis and management.

Stiff-Person Syndrome Associated with Anti-Glutamic Acid Decarboxylase Autoimmune Encephalitis in a Young Woman: A Case Report.

A 34-year-old female with stiff-person syndrome (SPS) is reported in this paper. She experienced short-term memory impairment and was diagnosed with anti-glutamic acid decarboxylase (GAD) autoimmune encephalitis (AE) at the local hospital. However, after the treatment with intravenous immunoglobulin and high-dose glucocorticoids, her symptoms unchanged. Two months later, she was admitted to our hospital due to an unstable gait and persistent leg stiffness, at which point she was diagnosed as anti-GAD AE concomitant with SPS. Her clinical symptoms improved with an increased dose of ?-aminobutyric acid (GABA)-enhancing drug and plasma exchange. Anti-GAD antibody-associated AE combined with SPS is extremely rare. Treatment with GABA-enhancing drugs and appropriate immunotherapy can improve the neurological function of patients suffering from the combination of SPS and limbic encephalitis.

Severe Chin-on-Chest Cervical Spine Deformity in the Setting of Stiff-Person Syndrome: A Case Report.

CASE: Stiff-person syndrome (SPS) presents with progressive muscle rigidity, postural instability, and periodic debilitating spasms. Reports of axial hyperextension exist, but kyphotic deformities have not been described. We surgically treated a patient with debilitating SPS and severe cervicothoracic hyperkyphosis with posterior spinal fusion and instrumentation. At 1-year follow-up, the patient displayed better upright gait and forward gaze, 18° cervical lordosis, and improved patient-reported outcome scores. CONCLUSION: SPS can lead to extreme spinal deformity and disease, including hyperkyphosis of the cervicothoracic spine, and can successfully be managed with a multidisciplinary team and a posterior-only correction with spinal instrumentation and fusion.

Morfología ecográfica de síndrome de Stiff cutáneo con correlación clínica e histológica / Ultrasound Morphology of Stiff Skin Syndrome with Clinical and Histological Correlation

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Influence of age on passive stiffness and size, quality, and strength characteristics.

INTRODUCTION: We examined the effects of aging on passive stiffness, size, quality, and strength characteristics of the posterior hip and thigh muscles. METHODS: Fifteen young (25 ± 3 years) and 15 old (72 ± 5 years) men participated in this study. Echo intensity (EI) and cross-sectional area (CSA) were determined from ultrasound scans of the hamstrings. Straight-leg raises were used to assess passive stiffness, which was calculated from the slopes of the initial (phase 1) and final (phase 2) portions of the angle-torque curve. Peak torque (PT) and rate of torque development (RTD) were assessed through maximal voluntary contractions. RESULTS: Phase 2 slope and EI were higher (P ≤ 0.024), and CSA, PT, and RTD were lower (P ≤ 0.011) in the old compared with the young men; however, no difference (P = 0.145) was observed for phase 1 slope. CONCLUSIONS: Decreases in muscle quality, as indicated by increases in EI, may contribute to the greater passive stiffness observed in older adults. Muscle Nerve 55: 305-315, 2017.

[Stiff person syndrome is a rare autoimmune disorder]. / Stiff person-syndrom er en sjælden autoimmun sygdom

Atypical symptoms raise classical diagnostic dilemmas of somatic versus functional disease. The challenge is greater when the condition is less frequent. Illustrating this issue is a case of stiff person syndrome (SPS) where a 46-year-old man was admitted with lower back and hip pain and stiffness of the musculature of the lower extremities resulting in stooped gait. Stiffness was absent while sleeping. Thorough clinical examination and tests were unable to explain the symptomology until suspicion of SPS was raised, supported by high levels of glutamic acid decarboxylase antibodies.

Brain 18F-FDG-PET characteristics in patients with paraneoplastic neurological syndrome and its correlation with clinical and MRI findings.

AIM: This study aimed to examine the imaging characteristics and clinical and MRI correlates of brain F-fluorodeoxyglucose (F-FDG)-PET imaging in patients with paraneoplatic neurological syndrome. MATERIALS AND METHODS: Data of patients diagnosed with paraneoplastic neurological syndrome were retrospectively reviewed using the electronic medical records of the patients, looking specifically at records of hospital stays, laboratory findings and imaging reports. Both brain MRI and F-FDG-PET imaging characteristics were analyzed and compared. RESULTS: A total of 19 patients (ages 26-78; 13 female and six male patients) with clinical diagnoses of PNS were analyzed in this study. Limbic encephalitis (paraneoplastic limbic encephalitis) was found in 10 patients, seven of whom had a diagnosis of cancer. Brain F-FDG-PET showed bilaterally increased mesial temporal F-FDG uptake in eight of 10 patients with limbic encephalitis; seven of these eight patients exhibited memory loss. There was also a notable reduction in general cortical F-FDG uptake (including in the primary visual cortex) in six of the 10 patients with limbic encephalitis; three of the six patients had their primary motor cortices spared, two of them being spared bilaterally. Five of the seven limbic encephalitis patients with diagnosed cancer and two of the three without it had the aforementioned cortical and temporal lobe findings. Of the eight patients with onconeuronal antibodies, seven had temporal lobe enhancement and a total of six had diffuse cortical dysfunction. One patient with paraneoplastic limbic encephalitis without antibodies had demonstrated severely increased F-FDG uptake in both occipital lobes extending to the temporal lobes. The other patient without antibodies had a normal PET scan. Only one patient among four with paraneoplastic cerebellar degeneration had demonstrated decreased cerebellar uptake on F-FDG-PET that correlated with atrophy of the cerebellar vermis on MRI. Three patients had a clinical diagnosis of sensory neuropathy, of whom one demonstrated mild bilateral decrease in F-FDG uptake in the mesial temporal lobes, one showed notable increase in F-FDG uptake in the right mesial temporal lobe (with normal MRI) and the other had a normal brain F-FDG-PET. One patient was found to have cerebellar findings paired with oculomotor findings and showed increased F-FDG uptake in the cerebellum. One patient with stiff-person syndrome had normal brain F-FDG-PET. CONCLUSION: The pattern of abnormalities in the brain F-FDG-PET images usually correlates well with the corresponding clinical settings and presentations. Although quite frequently findings correlate with those of MRI, at times F-FDG-PET can demonstrate functional abnormality in the absence of any MRI finding, which could give a therapeutic window before anatomical changes set in.

Progressive encephalomyelitis with rigidity and myoclonus preceding otherwise asymptomatic Hodgkin's lymphoma.

Stiff-person syndrome (SPS), a rare neuroimmunological disorder, is characterized by symmetrical rigidity and muscle stiffness, particularly of axial and proximal limb muscles. Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a variant of SPS which includes additional clinical features (e.g. sensory symptoms, brain stem signs and pathological CSF findings). An association of both SPS and PERM with (solid) malignancies has been previously reported. Beyond this, there have been single reports of SPS in the setting of Hodgkin's lymphoma (HL). Here, we present a case of PERM associated with HL, with PERM preceding occurrence of lymphoma by more than seven months. Our observation has obvious implications for the management and, in particular, diagnostic evaluation of patients with PERM.

PET evidence of central GABAergic changes in stiff-person syndrome.

We measured expression of central nervous system GABA-A receptors with (11)C-flumazenil ((11)C-FMZ) and PET in two subjects with stiff person syndrome (SPS). We found reduced (11)C-FMZ binding potential (BP) in motor-premotor cortex, and increased (11)C-FMZ BP in the cerebellar nuclei. This is the first in vivo PET evidence of central GABA-A receptors dysfunction in SPS, possibly concurring to the motor symptoms.

Brain gamma-aminobutyric acid changes in stiff-person syndrome.

BACKGROUND: Patients with stiff-person syndrome (SPS) have circulating antibodies against glutamic acid decarboxylase, the rate-limiting enzyme responsible for the synthesis of gamma-aminobutyric acid (GABA). Although the patients' symptoms of stiffness and unexpected spasms can be explained on the basis of reduced or impaired inhibitory neurotransmitters, such as GABA, it is unclear whether the level of GABA in the brains of these patients is reduced and, if so, whether the reduction is due to anti-glutamic acid decarboxylase antibodies. OBJECTIVE: To measure GABA levels in the brains of patients with SPS. DESIGN: Prospective case-control study. SETTING: National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md. PATIENTS: Eight patients with SPS with high titers of circulating anti-glutamic acid decarboxylase antibodies and typical clinical symptoms of SPS and 16 control subjects. MAIN OUTCOME MEASURES: Results of brain magnetic resonance imaging and magnetic resonance spectroscopy, which measures GABA levels in specific brain regions. RESULTS: No abnormalities were noted on brain magnetic resonance images. A prominent and significant decrease in GABA level was, however, observed in the sensorimotor cortex and a smaller decrease in the posterior occipital cortex but not in the cingulate cortex or pons. CONCLUSIONS: The reduction of brain GABA in patients with SPS supports the clinical symptoms and indicates that the inhibitory GABAergic pathways are involved in the disease. Regardless of the responsible autoantigens, in SPS autoantibodies block the function of GABAergic neurons and interfere with the synthesis of GABA but do not cause structural changes in the brain.