A Stiff Person Syndrome Misdiagnosed as a Psychiatric Illness: A Case Report

2020 ◽  
Vol 16 (4) ◽  
pp. 343-345 ◽  
Author(s):  
Mohamed-Anis Souissi ◽  
Syrine Bellakhal ◽  
Emna Gharbi ◽  
Istabrak Abdelkefi ◽  
Mohamed-Hedi Douggui
Keyword(s):  
Psychiatric Illness ◽  
Antidepressant Drugs ◽  
Brain Magnetic Resonance Imaging ◽  
Lower Limbs ◽  
Acid Decarboxylase ◽  
Diagnosis Delay ◽  
Stiff Person Syndrome ◽  
Considerable Difficulty ◽  
High Blood Glucose ◽  
High Level

Background: Stiff Person Syndrome (SPS) is a rare autoimmune neurological disorder which is often misdiagnosed. We report here a case of SPS with a long diagnosis delay. Case: A 36-year-old man presented with an 11-year history of progressive stiffness and painful spasms of his both legs, with recent worsening of his condition over the last year resulting in a considerable difficulty of standing up and walking. As the patient developed phobic symptoms, he was considered as having a psychiatric illness and treated with antianxiety and antidepressant drugs. As no real improvement was observed, the patient was referred to internal medicine. Neurological examination showed paraspinal, abdominal and lower limbs muscle contraction with lumbar rigidity. These symptoms were associated to adrenergic symptoms: profuse sweating, tachycardia and high bloodpressure. Initial routine investigations revealed high blood glucose level. Polygraphic electromyographic (EMG) evaluation from paraspinal and leg muscles showed continuous motor unit activity in agonist and antagonist muscle. Electroencephalography and brain magnetic resonance imaging were normal. Immunologic tests according to radio immune assay technique revealed high level of serum anti-glutamic acid decarboxylase (anti-GAD65) antibodies. Diagnosis of autoimmune SPS was retained based on clinical, electrophysiological, and immunological findings. Pregabalin at the dose of 150 mg, three times a day was prescribed with satisfying response. Conclusion: SPS is supported by an autoimmune pathogenesis and anti-GAD antibodies seems to be very helpful when SPS is clinically suspected. Treatment of SPS is a challenge, given the scarcity of the syndrome and the absence of established recommendations.

Stiff Person Syndrome and Encephalitis with GAD Antibodies with Severe Anterograde Amnesia in an Adolescent: A Case Study and Literature Review

2021 ◽  
Author(s):  
Léa Herbulot ◽  
Chloé Bost ◽  
Agnès Viguier ◽  
Nathalie Faure-Marie ◽  
Eloïse Baudou ◽  
...  
Keyword(s):  
Immunosuppressive Treatment ◽  
Brain Magnetic Resonance Imaging ◽  
Anterograde Amnesia ◽  
Female Adolescent ◽  
University Hospital ◽  
Acid Decarboxylase ◽  
Stiff Person Syndrome ◽  
Clinical Presentations ◽  
The University ◽  
Gad65 Antibodies

AbstractAntiglutamic acid decarboxylase (GAD65) encephalitis is rare and few pediatric cases have been reported, with variable clinical presentations. A 14-year-old female adolescent was managed in our department. She had been treated for several months for drug-resistant temporal lobe epilepsy and gradually presented major anterograde amnesia with confusion. Upon her arrival at the University Hospital Centre, she showed a classical form of stiff person syndrome. The brain magnetic resonance imaging showed bitemporal hyperintensities and hypertrophy of the amygdala. The blood and cerebrospinal fluid were positive for GAD65 antibodies. At 2 years of immunosuppressive treatment and rehabilitation, the course showed partial improvement of the memory and neuropsychiatric impairment, and epilepsy that continued to be active. GAD65 antibodies are associated with various neurological syndromes, and this presentation combining limbic encephalitis and stiff person syndrome is the first pediatric form published to date; there are also few cases described in adults.

CLINICAL AND IMMUNOLOGICAL ASPECTS OF VERIFICATION OF LATENT AUTOIMMUNE DIABETES IN ADULTS AT EARLY STAGES OF DISEASE MANIFESTATION

2021 ◽  
Vol 74 (7) ◽  
pp. 1707-1712
Author(s):  
Tetiana М. Tykhonova ◽  
Igor V. Belozоrov ◽  
Nadiya Ye. Barabash ◽  
Larysa O. Martymianova
Keyword(s):  
Autoimmune Diabetes ◽  
Tyrosine Phosphatase ◽  
Disease Onset ◽  
Acid Decarboxylase ◽  
Excess Body Weight ◽  
Disease Manifestation ◽  
Latent Autoimmune Diabetes ◽  
Immunological Examination ◽  
High Level

The aim: To establish diagnostic markers of LADA at the stage of manifestation based on the analysis of clinical and anamnestic data, the results of immunological examination of patients with different types of DM. Materials and methods: Study included 121 patients with LADA (1st (main) group), 60 patients with type 1 DM (2nd group), 81 patients with type 2 DM (3d group). The examination included analysis of complaints, medical history, determination of anthropometric data, studies of the level of antibodies to glutamic acid decarboxylase (GAD ab), cytoplasmic antigen (ICA ab), tyrosine phosphatase (IA-2 ab). Results: Criteria of LADA diagnosis included slow nature of DM course, the average age of the disease onset (45,02±9,96) years, combination of diabetic complaints with gradual weight loss, frequent detection of DM (64,46%) on request, fairly high level of glycemia at diagnosis ((14,12±4,57) mmol/l)), the possibility of ketonuria episodes in a certain amount (23,14%) of cases in the absence of acute ketoacidotic states. The presence of excess body weight and even obesity is not a criterion for excluding LADA. Conclusions: To verify the diagnosis of LADA it is necessary to study of at least two types of antibodies. The most conclusive is the determination of GAD ab and IA-2 ab.

scholarly journals Improvement of stiff-person syndrome symptoms in pregnancy

2020 ◽  
Vol 7 (3) ◽  
pp. e684 ◽  
Author(s):  
Megan E. Esch ◽  
Scott D. Newsome
Keyword(s):  
Glutamic Acid ◽  
Clinical Improvement ◽  
Glutamic Acid Decarboxylase ◽  
Clinical Symptoms ◽  
Acid Decarboxylase ◽  
Stiff Person Syndrome ◽  
Treatment Changes ◽  
Gad65 Antibody ◽  
Insight Into ◽  
In Pregnancy

ObjectiveTo describe 2 cases from a single academic institution of improvement in stiff-person syndrome (SPS) symptoms during pregnancy and to review the clinical outcomes of SPS in 6 additional pregnancies described in the literature.MethodsEvaluation of clinical symptoms and treatment changes of disease state during pregnancy.ResultsSeven patients with 9 pregnancies are described in women with a diagnosis of SPS. Six of 7 (86%) women were positive for glutamic acid decarboxylase (GAD65) antibody. In 5 of 9 (56%) pregnancies, symptomatic medications (antispasmodics) were significantly reduced with stabilization or improvement in symptoms through pregnancy. Nine live, healthy pregnancies resulted. All 7 (100%) women experienced worsening of symptoms after the birth of their children, and symptomatic therapies were resumed and/or increased.ConclusionsThe immune pathogenesis of SPS continues to be explored. Immunomodulatory shifts during pregnancy may influence changes of clinical SPS symptoms and provide insight into the unique pathogenesis of SPS. Some women with SPS may be able to reduce symptomatic medications related to clinical improvement during pregnancy. Women with SPS may safely carry pregnancies to term, delivering healthy and unaffected babies.

Muscle Activation in the Main Muscle Groups of the Lower Limbs in High-Level Dancesport Athletes

2018 ◽  
Vol 33 (4) ◽  
pp. 231-237
Author(s):  
Encarnación Liébana ◽  
Cristina Monleón ◽  
Raquel Morales ◽  
Carlos Pablos ◽  
Consuelo Moratal ◽  
...  
Keyword(s):  
Tibialis Anterior ◽  
Muscle Activation ◽  
Rectus Femoris ◽  
Biceps Femoris ◽  
Lower Limbs ◽  
Gastrocnemius Medialis ◽  
Leg Muscles ◽  
Relative Activation ◽  
Muscle Groups ◽  
High Level

Dancers are subjected to high-intensity workouts when they practice dancesport, and according to the literature, they are prone to injury, primarily of the lower limbs. The purpose of this study was to determine whether differences exist in relative activation amplitudes for dancers involved in dancesport due to muscle, gender, and type of dance. Measurements were carried out using surface electromyography equipment during the choreography of a performance in the following leg muscles: rectus femoris, biceps femoris, tibialis anterior, and gastrocnemius medialis. Eight couples of active dancesport athletes (aged 20.50±2.75 yrs) were analyzed. Significant gender differences were found in rumba in the tibialis anterior (p≤0.05) and gastrocnemius medialis (p≤0.05). Based on the different activations, it is possible to establish possible mechanisms of injury, as well as tools for preventing injuries and improving sports performance.

scholarly journals Autoimmune musicogenic epilepsy associated with anti‐glutamic acid decarboxylase antibodies and Stiff‐person syndrome

2019 ◽  
Vol 8 (1) ◽  
pp. 61-64 ◽  
Author(s):  
Joana Jesus‐Ribeiro ◽  
Alireza Bozorgi ◽  
Modhi Alkhaldi ◽  
Mahmoud Shaqfeh ◽  
Guadalupe Fernandez‐Baca Vaca ◽  
...  
Keyword(s):  
Glutamic Acid ◽  
Glutamic Acid Decarboxylase ◽  
Acid Decarboxylase ◽  
Stiff Person Syndrome ◽  
Glutamic Acid Decarboxylase Antibodies ◽  
Musicogenic Epilepsy

scholarly journals 076 A rare case of anti-glutamate decarboxylase antibody syndrome presenting with recurrent vomiting

2019 ◽  
Vol 90 (e7) ◽  
pp. A24.1-A24
Author(s):  
Shoaib Dal ◽  
Bill O’Brien
Keyword(s):  
Weight Loss ◽  
Whole Body ◽  
Oligoclonal Bands ◽  
Acid Decarboxylase ◽  
Therapeutic Trial ◽  
List Type ◽  
Stiff Person Syndrome ◽  
Ct Angiogram ◽  
Recurrent Vomiting ◽  
History Of

IntroductionAnti-glutamte decarboxylase antibody (anti-GAD) has been linked with various neurological syndromes including stiff-person syndrome, limbic encephalopathy, cerebellar ataxia, eye movement disorders and epilepsy (collectively known as ‘anti-GAD positive neurological syndromes’).1 We describe a very atypical phenotypic presentation of anti-GAD syndrome with unexplained vomiting and weight loss.CaseA 46 years old lady with no past medical or family history of note, presented with 6 months history of severe headaches and recurrent attacks of episodic vomiting (4–6 episodes of multiple vomiting daily) with no identified precipitant and complete normality in between the episodes with no other associated symptoms. She reported 15 kg of unintentional weight loss. Neurological examination and investigations including MRI brain, CT angiogram and liver enzymes, immunoglobulins, thyroid function, vasculitic screen were normal. Upper GI endoscopy, gastric emptying studies, CT imaging of chest, abdomen and pelvis and whole body PET scan were unremarkable. Serum autoimmune antibody screen was positive with high titre of anti-GAD antibody (1200 kU/liter). The cerebrospinal fluid anti-GAD antibody titre was raised at 103.7 kU/liter with otherwise normal parameters including negative oligoclonal bands. The nerve conduction studies did not show continuous motor activity or spasmodic reflex myoclonus (seen in stiff-person syndrome).2 A therapeutic trial of immunosuppression was introduced with moderate improvement in symptoms.ConclusionAnti-GAD neurological syndromes are rare and this is a unique presentation of the same. It is not completely understood why the presence of one antibody causes varied syndromes. The hypothesis is that the recurrent vomiting is possibly due to diaphragmatic spasms.ReferencesSaiz A, Blanco Y, Sabater L, et al. Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association. Brain 2008;131:2553–2563.Buechner S, Florio I, Capone L. Stiff person syndrome: A rare neurological disorder, heterogeneous in clinical presentation and not easy to treat. Case Rep Neurol Med2015; 2015:278065.

scholarly journals Paraneoplastic Stiff Person Syndrome in Early-Stage Breast Cancer with Positive Anti-Amphiphysin Antibodies

2020 ◽  
Vol 12 (3) ◽  
pp. 339-347
Author(s):  
Vitalie Vacaras ◽  
Enia Eleonora Cucu ◽  
Roxana Radu ◽  
Dafin Fior Muresanu
Keyword(s):  
Breast Cancer ◽  
Breast Tumor ◽  
Early Stage ◽  
Acid Decarboxylase ◽  
Muscle Rigidity ◽  
Stiff Person Syndrome ◽  
Gad Antibodies ◽  
Neurologic Disorder ◽  
Muscle Cramps ◽  
Classic Form

Stiff person syndrome (SPS) is a rare neurologic disorder, characterized by muscle rigidity and spasms. Anti-glutamic acid decarboxylase (anti-GAD) antibodies are associated with the classic form of SPS, while antibodies against amphiphysin are associated with the paraneoplastic form of the disease. We present the case of a patient with paraneoplastic SPS, presenting with muscle cramps of lower extremities that progressed to severe muscle rigidity and spasms, associated with a right breast tumor and positive anti-amphiphysin antibodies. Paraneoplastic SPS is a rare neurological disorder, challenging for the physicians both to diagnose and treat.

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