RESUMEN
Stiff-person syndrome (SPS) usually manifests as an autoimmune neuromuscular disorder characterised by pronounced and advancing rigidity, primarily affecting the trunk and proximal muscles. There are various clinical subtypes like classic SPS (truncal stiffness, generalised rigidity and muscle spasms), partial SPS (stiff-limb syndrome) and uncommon forms including progressive encephalomyelitis with rigidity and myoclonus. Camptocormia, defined as forward flexion of the spine in the upright position that disappears in the supine position, without fixed deformity, has been described only in two cases as an initial presentation of Anti glutamic acid decarboxylase (GAD) autoimmunity. We encountered a young male presenting with a progressive forward-leaning posture and involuntary rhythmic movements in the lower limb. Diagnostic workup included MRI, blood routines, autoimmune screening, genetic testing, lumbar puncture and electromyography. Elevated serum anti-GAD antibody levels, inflammatory CSF and certain other clinical features supported the diagnosis of SPS. Treatment involved benzodiazepines, muscle relaxants and immunotherapy with intravenous immunoglobulin. This case underscores the importance of considering immune-mediated causes, such as SPS, in patients presenting with camptocormia.
Asunto(s)
Glutamato Descarboxilasa , Atrofia Muscular Espinal , Curvaturas de la Columna Vertebral , Síndrome de la Persona Rígida , Humanos , Masculino , Síndrome de la Persona Rígida/inmunología , Síndrome de la Persona Rígida/diagnóstico , Síndrome de la Persona Rígida/complicaciones , Curvaturas de la Columna Vertebral/inmunología , Curvaturas de la Columna Vertebral/complicaciones , Curvaturas de la Columna Vertebral/etiología , Glutamato Descarboxilasa/inmunología , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/complicaciones , Atrofia Muscular Espinal/inmunología , Autoanticuerpos/sangre , Autoanticuerpos/inmunología , Inmunoglobulinas Intravenosas/uso terapéutico , Adulto , Rigidez Muscular/inmunología , Rigidez Muscular/tratamiento farmacológico , Rigidez Muscular/diagnóstico , Electromiografía , Imagen por Resonancia MagnéticaAsunto(s)
Accidentes por Caídas , Dolor de Espalda , Síndrome de la Persona Rígida , Adulto , Femenino , Humanos , Dolor de Espalda/etiología , Diagnóstico Diferencial , Pierna , Síndrome de la Persona Rígida/complicaciones , Síndrome de la Persona Rígida/diagnóstico , Síndrome de la Persona Rígida/inmunología , Síndrome de la Persona Rígida/terapia , Espasmo/etiologíaRESUMEN
BACKGROUND: Stiff person syndrome (SPS) is a rare neuroimmunological disorder characterized by rigidity and painful spasm primarily affecting the truncal and paraspinal musculature due to autoimmune-mediated neuronal hyperexcitability. Spinal cord stimulation (SCS) is an approved therapy for managing painful neuropathic conditions, including diabetic peripheral neuropathy and refractory angina pectoris. We describe the novel use of SCS for the treatment of spasm and rigidity in a 49-year-old man with seropositive stiff person syndrome (SPS). The patient was treated with intravenous immunoglobulin (IVIG) and oral medications over a 13-month period with minimal improvement, prompting consideration of SCS. To our knowledge, this is the first report of the successful use of SCS in SPS with the demonstration of multifaceted clinical improvement. METHODS: Following a successful temporary SCS trial, permanent implantation was performed. Spasm/stiffness (Distribution of Stiffness Index; Heightened Sensitivity Scale; Penn Spasm Frequency Scale, PSFS), disability (Oswestry Disability Index, ODI; Pain Disability Index, PDI), depression (Patient Health Questionnaire-9, PHQ-9), sleep (Pittsburgh Sleep Quality Index, PSQI), fatigue (Fatigue Severity Scale, FSS), pain (Numerical Pain Rating Scale, NPRS), quality of life (EuroQoL 5 Dimension 5 Level, EQ-5D-5L), and medication usage were assessed at baseline, 6-month, and 10-month postimplantation. RESULTS: ODI, PHQ-9, FSS, NPRS, PSQI, and EQ-5D-5L scores showed a notable change from baseline and surpassed the defined minimal clinically important difference (MCID) at 6-month and 10-month follow-up. Oral medication dosages were reduced. CONCLUSIONS: The novel use of SCS therapy in seropositive SPS resulted in functional improvement and attenuation of symptoms. We present possible mechanisms by which SCS may produce clinical response in patients with SPS and aim to demonstrate proof-of-concept for a future comprehensive pilot study evaluating SCS-mediated response in SPS.
Asunto(s)
Estimulación de la Médula Espinal , Síndrome de la Persona Rígida , Humanos , Síndrome de la Persona Rígida/terapia , Síndrome de la Persona Rígida/complicaciones , Masculino , Persona de Mediana Edad , Estimulación de la Médula Espinal/métodos , Rigidez Muscular/terapia , Rigidez Muscular/etiología , Espasmo/terapia , Espasmo/etiología , Resultado del TratamientoRESUMEN
OBJECTIVES: To describe a patient with mild GAD-positive stiff-leg syndrome (SLS) who developed severely disabling stiff-person syndrome (SPS) 1 week after mild COVID-19 and discuss the impact of viral implications. METHODS: Video-documented serial clinical observations at baseline, after acute COVID-19, and after IVIG treatments. RESULTS: A 39-year-old man with left-SLS was stable during a 2-year follow-up with low-dose antispasmodics, working fully and functioning normally, even able to run. One week after mild COVID-19, he started to experience generalized SPS symptomatology that steadily worsened the following 2-3 weeks, becoming unable to walk, requiring a walker, with significant thoracolumbar and bilateral leg stiffness and spasms. GAD ab were very high. After 3 monthly IVIg infusions he showed improvements, but his gait remains significantly stiff. All clinical changes, from baseline to post-Covid, and then post- IVIg have been video-documented. DISCUSSION: This is the first, clearly documented, severe GAD-positive SPS after COVID-19. Although viral or postviral causation can be incidental, the temporal connection with acute COVID-19, the severe disease worsening after symptom-onset, and the subsequent steady improvement after IVIg, suggest viral-triggered autoimmunity. Because COVID-19 reportedly can trigger or worsen GAD-associated diabetes type 1 through proinflammatory mediators, and SPS has been reportedly triggered by West Nile Virus, possibly through molecular mimicry, this case of acutely converting GAD-SLS to GAD-SPS suggest the need to explore viral etiologies in patients with GAD-SPS experiencing acute, long-lasting episodic exacerbations of stiffness and spasms.
Asunto(s)
COVID-19 , Síndrome de la Persona Rígida , Masculino , Humanos , Adulto , Síndrome de la Persona Rígida/complicaciones , Síndrome de la Persona Rígida/diagnóstico , Inmunoglobulinas Intravenosas , COVID-19/complicaciones , Espasmo/complicaciones , Espasmo/terapiaRESUMEN
Stiff-person syndrome is a rare neurological condition characterized by muscular rigidity of the trunk and extremities and muscle spasms triggered by sensory or emotional stimuli, which progresses towards prostration. It has a pathophysiogenic mechanism with an immunological basis, in which autoantibodies, such as antiGAD65, play a central role. Likewise, the detection of these antibodies corroborates the diagnosis in a patient with a suggestive clinical picture. Four to 6% of cases have underlying neoplasms. Treatment is based on symptomatic, immunomodulatory, and underlying disease management in paraneoplastic cases. We report a case of classic stiff person syndrome associated with thymoma and review the main characteristics of this entity.
El síndrome de persona rígida es un cuadro neurológico infrecuente caracterizado por rigidez muscular de tronco y extremidades y espasmos musculares gatillados por estímulos sensoriales o emocionales, que progresa hacia la postración. Cuenta con un mecanismo fisiopatogénico con base inmunológica, en el cual los autoanticuerpos, como el antiGAD65, cumplen un rol central. Asimismo, la detección de dichos anticuerpos corrobora el diagnóstico ante un paciente con cuadro clínico sugestivo. Un 4 a 6% de los casos tienen neoplasias subyacentes. El tratamiento se basa en el manejo sintomático, inmunomodulador y de la enfermedad de base en los casos paraneoplásicos. Reportamos un caso de síndrome de persona rígida clásico asociado a timoma y describimos las características principales de esta entidad.
Asunto(s)
Síndrome de la Persona Rígida , Timoma , Neoplasias del Timo , Humanos , Timoma/complicaciones , Timoma/diagnóstico , Síndrome de la Persona Rígida/complicaciones , Síndrome de la Persona Rígida/diagnóstico , Neoplasias del Timo/complicaciones , Neoplasias del Timo/diagnóstico , AutoanticuerposRESUMEN
Antibodies to Glutamic Acid Decarboxylase (GAD) have been implicated in the pathogenesis of both autoimmune Limbic Encephalitis (LE) and Stiff Person Syndrome (SPS). However, their association is quite rare. We present a case of a 48-year-old Caucasian female who presented with symptoms of recurrent severe headaches, behavioral and cognitive dysfunction, and an episode of seizure. She was found to have high titers of anti-GAD65 antibodies in both cerebrospinal fluid and serum. She was diagnosed with LE and SPS, and was started on immunosuppressive therapy with steroids and intravenous immunoglobulins (IVIG). The patient responded well to treatment with improvement in her symptoms.
Asunto(s)
Enfermedades Autoinmunes , Encefalitis Límbica , Síndrome de la Persona Rígida , Humanos , Femenino , Persona de Mediana Edad , Síndrome de la Persona Rígida/complicaciones , Síndrome de la Persona Rígida/diagnóstico , Síndrome de la Persona Rígida/tratamiento farmacológico , Autoanticuerpos/líquido cefalorraquídeo , Enfermedades Autoinmunes/complicaciones , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/tratamiento farmacológico , Encefalitis Límbica/complicaciones , Encefalitis Límbica/diagnóstico , Encefalitis Límbica/terapia , CefaleaRESUMEN
BACKGROUND AND PURPOSE: Stiff person syndrome (SPS) spectrum disorders (SPSSD) cause spasms and rigidity throughout different body regions and can be associated with apnea and acute respiratory failure. There are limited data on the prevalence and predictors of respiratory symptoms with spasms (RSwS) in SPSSD. We sought to characterize the spirometry patterns and the frequency and predictors of RSwS in a large SPSSD cohort. METHODS: Participants were recruited from the Johns Hopkins SPS Center between 1997 and 2021, as part of an ongoing, longitudinal observational study. Medical records were reviewed to assess demographics and clinical characteristics. Data were analyzed using descriptive statistics and multivariable logistic regression models. RESULTS: One-hundred ninety-nine participants (mean age = 53.4 ± 13.6 years, median time to diagnosis = 36 [IQR 66] months, 74.9% women, 69.8% White, 62.8% classic SPS phenotype) were included in final analyses; 35.2% of participants reported RSwS, of whom 24.3% underwent spirometry as part of routine clinical care. Obstructive (23.5%) and restrictive (23.5%) patterns were most commonly observed in those with SPSSD. An increasing number of body regions involved predicted the presence of RSwS (odds ratio [OR] = 1.95, 95% confidence interval [CI] = 1.50-2.53); those with ≥5 body regions involved (vs. ≤4) had higher odds (OR = 6.19, 95% CI = 2.81-13.62) of experiencing RSwS in adjusted models. Two patients died from SPSSD-associated respiratory compromise. CONCLUSIONS: RSwS are common in SPSSD and may be predicted by an increasing number of body regions involved by SPSSD. Close clinical monitoring and having a low threshold to obtain spirometry should be considered in people with SPSSD.
Asunto(s)
Síndrome de la Persona Rígida , Humanos , Femenino , Masculino , Síndrome de la Persona Rígida/complicaciones , Síndrome de la Persona Rígida/diagnóstico , Síndrome de la Persona Rígida/epidemiología , Fenotipo , PrevalenciaAsunto(s)
Trastornos Parkinsonianos , Síndrome de la Persona Rígida , Humanos , Levodopa/farmacología , Levodopa/uso terapéutico , Dopamina , Síndrome de la Persona Rígida/tratamiento farmacológico , Síndrome de la Persona Rígida/complicaciones , Receptores de Glicina , Trastornos Parkinsonianos/complicacionesRESUMEN
ABSTRACT: A 68-year-old woman with positional dizziness and progressive imbalance presented for vestibular evaluation. Examination was notable for spontaneous downbeat nystagmus (DBN), horizontal and vertical gaze-evoked nystagmus (GEN) with centripetal and rebound nystagmus, and positional apogeotropic nystagmus. There was also mild-moderate slowing of saccades horizontally and vertically and poor fast phases with an optokinetic stimulus. Further consultation by a movement disorder specialist uncovered asymmetric decrementing bradykinesia and rigidity, masked facies, and a wide-based stance without camptocormia. Screening serum laboratory results for metabolic, rheumatologic, infectious, heavy metal, endocrine, or vitamin abnormalities was normal. Surveillance imaging for neoplasms was unremarkable, and cerebrospinal fluid (CSF) analysis was negative for 14-3-3 and real-time quaking-induced conversion (RT-QuIC). However, her anti-glutamic acid decarboxylase-65 (GAD65) immunoglobulin G (IgG) level was markedly elevated in serum to 426,202 IU/mL (reference range 0-5 IU/mL) and in CSF to 18.1 nmol/L (reference range <0.03 nmol/L). No other autoantibodies were identified on the expanded paraneoplastic panel. The patient was referred to neuroimmunology, where torso rigidity, spasticity, and significant paravertebral muscle spasms were noted. Overall, the clinical presentation, examination findings, and extensive workup were consistent with a diagnosis of anti-GAD65-associated stiff person syndrome-plus (musculoskeletal plus cerebellar and/or brainstem involvement). She was subsequently treated with intravenous immunoglobulin (IVIg) and has been stable since commencing this therapy. In patients with centripetal nystagmus, especially in association with other cerebellar findings, an autoimmune cerebellar workup should be considered.
Asunto(s)
Ataxia Cerebelosa , Nistagmo Patológico , Trastornos Parkinsonianos , Síndrome de la Persona Rígida , Femenino , Humanos , Anciano , Movimientos Sacádicos , Síndrome de la Persona Rígida/complicaciones , Síndrome de la Persona Rígida/diagnóstico , Síndrome de la Persona Rígida/tratamiento farmacológico , Glutamato Descarboxilasa , Nistagmo Patológico/diagnóstico , Nistagmo Patológico/etiología , Nistagmo Patológico/tratamiento farmacológico , Autoanticuerpos , Trastornos Parkinsonianos/complicaciones , Trastornos Parkinsonianos/diagnósticoRESUMEN
BACKGROUND: The clinical spectrum of stiff-person syndrome (SPS) encompasses a wide range of signs including psychiatric symptoms (PS). OBJECTIVE: Our objective was to provide an overview of the spectrum of PS in SPS through a systematic literature search and 2 illustrative case reports. METHODS: We reported 2 anti-glutamic acid decarboxylase-positive SPS cases that presented with phobic disorder, and we performed a systematic review by following the 2020 Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Articles published in PubMed, MEDLINE on Ovid, Embase, and via a manual search before October 20, 2020, were selected by 2 independent reviewers. Original studies, case reports, editorials, commentaries, and letters to the editor reporting cases of SPS with PS were all included. Conference abstracts, reviews and book chapters, unavailable articles, and those not reporting SPS cases or PS were excluded. Quantitative summary data were calculated. RESULTS: In addition to our 2 cases, we identified 237 cases of SPS with PS from 74 additional included publications totaling 239 patients. Anxiety (56%) and depression (45%) were the most common PS in SPS. Mean diagnostic delay was 4.7 years. Among the 3 SPS phenotypes, the classic form was predominant (77%), followed by stiff-limb syndrome (13%) and progressive encephalomyelitis with rigidity and myoclonus (10%). The most frequent etiology of SPS with PS was autoimmune (90%), followed by cryptogenic (7%) and paraneoplastic forms (7%). These patients were mainly treated with immune-mediated therapies and GABAergic drugs. CONCLUSIONS: Our review revealed that the most common PS of SPS are anxiety and depression occurring mostly in autoimmune and classic forms, allowing a clearer understanding of this entity, which may lead to earlier diagnosis and better outcome.
Asunto(s)
Encefalomielitis , Síndrome de la Persona Rígida , Humanos , Síndrome de la Persona Rígida/complicaciones , Síndrome de la Persona Rígida/diagnóstico , Diagnóstico Tardío , AutoanticuerposRESUMEN
PURPOSE: Stiff person syndrome (SPS), an autoimmune disease that manifests with episodic muscle rigidity and spasms, has anesthetic considerations because postoperative hypotonia may occur. This hypotonia has been linked to muscle relaxants and volatile anesthetics and may persist in spite of neostigmine administration and train-of-four (TOF) monitoring suggesting full reversal. We present a patient with SPS who experienced hypotonia following total intravenous anesthesia (TIVA), which was promptly reversed with sugammadex. These observations are considered in light of the relevant medical literature. CLINICAL FEATURES: A 46-yr-old female patient with SPS underwent breast lumpectomy and sentinel node biopsy. Anesthesia consisted of TIVA (propofol/remifentanil) with adjunctive administration of rocuronium 20 mg to obtain adequate intubating conditions. Despite return of the TOF ratio to 100% within 30 min, hypotonia was clinically evident at conclusion of surgery two hours later. Sugammadex 250 mg reversed residual muscle relaxation permitting uneventful extubation. A literature review identified six instances of postoperative hypotonia (TIVA, n = 3; volatile anesthetics, n = 3) in spite of neostigmine administration (n = 2) and TOF monitoring suggesting full reversal (n = 4). CONCLUSIONS: Patients with SPS may show hypotonia regardless of general anesthetic technique (TIVA vs inhalational anesthesia), which can persist despite recovery of the TOF ratio and may be more effectively reversed by a chelating agent than with an anticholinesterase. If general anesthesia is required, we suggest a cautious approach to administering muscle relaxants including using the smallest dose necessary, considering the importance of clinical assessment of muscle strength recovery in addition to TOF monitoring, and discussing postoperative ventilation risk with the patient prior to surgery.
RéSUMé: OBJECTIF: Le syndrome de la personne raide (SPR), une maladie auto-immune qui se manifeste par une rigidité musculaire et des spasmes épisodiques, requiert certaines considérations anesthésiques en raison du risque d'hypotonie postopératoire. Cette hypotonie a été liée à des myorelaxants et à des anesthésiques volatils et peut persister malgré l'administration de néostigmine et un monitorage du train-de-quatre (TDQ) suggérant une neutralisation complète. Nous présentons le cas d'une patiente atteinte de SPR qui a souffert d'hypotonie après une anesthésie intraveineuse totale (TIVA), laquelle a été rapidement neutralisée à l'aide de sugammadex. Ces observations sont examinées à la lumière de la littérature médicale pertinente. CARACTéRISTIQUES CLINIQUES: Une patiente de 46 ans atteinte de SPR a bénéficié d'une tumorectomie mammaire et d'une biopsie du ganglion sentinelle. L'anesthésie consistait en une TIVA (propofol/rémifentanil) avec administration d'appoint de 20 mg de rocuronium pour atteindre des conditions d'intubation adéquates. Malgré le retour du ratio de TdQ à 100 % dans les 30 minutes, l'hypotonie était cliniquement évidente à la fin de la chirurgie deux heures plus tard. L'administration de 250 mg de sugammadex a neutralisé la relaxation musculaire résiduelle, permettant une extubation sans incident. Une revue de la littérature a identifié six cas d'hypotonie postopératoire (TIVA, n = 3; anesthésiques volatils, n = 3) malgré l'administration de néostigmine (n = 2) et le monitorage du TdQ suggérant une neutralisation complète (n = 4). CONCLUSION: Les patients atteints de SPR peuvent présenter une hypotonie quelle que soit la technique d'anesthésie générale utilisée (TIVA vs anesthésie par inhalation), laquelle peut persister malgré la récupération du rapport de TdQ; cette hypotonie peut être plus efficacement neutralisée par un agent chélateur qu'avec un anticholinestérasique. Si une anesthésie générale est nécessaire, nous suggérons une approche prudente pour l'administration de myorelaxants, y compris l'utilisation de la plus petite dose nécessaire, la prise en compte de l'importance de l'évaluation clinique de la récupération de la force musculaire en plus du monitorage du TdQ, et la communication du risque de ventilation postopératoire au patient avant la chirurgie.
Asunto(s)
Anestésicos por Inhalación , Bloqueo Neuromuscular , Propofol , Síndrome de la Persona Rígida , Humanos , Femenino , Rocuronio , Sugammadex , Neostigmina , Síndrome de la Persona Rígida/complicaciones , Inhibidores de la Colinesterasa , Remifentanilo , Hipotonía Muscular , Anestésicos por Inhalación/efectos adversos , Quelantes , Bloqueo Neuromuscular/métodosRESUMEN
Stiff person syndrome (SPS) is a rare, debilitating neurological illness characterised by rigidity and spasms of the axial muscles, causing severe restrictions to mobility. SPS can be classic, partial or paraneoplastic. We report a case of a young woman who presented with seizures and painful spasms of the thoracolumbar muscles who was subsequently diagnosed with SPS. Serological work revealed glutamic acid decarboxylase (GAD) antibodies and imaging showed a large mediastinal mass. The patient underwent surgical resection of the mediastinal mass and final pathology revealed well-differentiated mediastinal liposarcoma. She received five sessions of plasma exchange and her neurological symptoms gradually improved after surgery. This case highlights a rare case of GAD antibody-positive paraneoplastic SPS associated with mediastinal liposarcoma.
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Liposarcoma , Síndrome de la Persona Rígida , Autoanticuerpos , Femenino , Glutamato Descarboxilasa , Humanos , Liposarcoma/complicaciones , Espasmo/complicaciones , Síndrome de la Persona Rígida/complicaciones , Síndrome de la Persona Rígida/diagnósticoRESUMEN
We report an early childhood onset Stiff Limb Syndrome (SLS) in association with unusual polyautoimmunity of GAD-65, anti-islet cell, and Thyroid Peroxidase (TPO) autoantibodies, who has achieved a nearly complete neurological recovery following combined immunotherapy, symptomatic and physical therapy. The patient had normal MRIs of the brain and spinal cord and a negative paraneoplastic work-up. Subsequently, she developed hypothyroidism requiring levothyroxine supplementation. We then conducted an extensive review of literature and identified 52 previously reported pediatric Stiff Man Syndrome (SMS)/Stiff Person Syndrome (SPS) or SLS cases, which has demonstrated a common association with other systemic autoimmune conditions. In the available literature, screening for concurrent autoimmunity has only been reported infrequently. We found that a paraneoplastic process is extremely rare in pediatric cases. Timely diagnosis and initiation of immunotherapy are critical to a favorable outcome. Therefore, we recommend to include SMS/SPS or SLS as an important differential diagnosis for MRI-negative myelopathy. Further clinical and research efforts should be focused on understanding the role of both genetic predisposition and environmental insults in the autoimmunity of pediatric SMS/SPS or SLS.
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Glutamato Descarboxilasa , Síndrome de la Persona Rígida , Autoanticuerpos , Autoinmunidad , Niño , Preescolar , Femenino , Humanos , Yoduro Peroxidasa , Síndrome de la Persona Rígida/complicacionesRESUMEN
Stiff-person syndrome (SPS) is a rare, autoimmune, neurological disorder that often occurs concurrently with other autoimmune disorders, such as type 1 diabetes mellitus, pernicious anaemia, vitiligo and Hashimoto's thyroiditis. It also can manifest as a paraneoplastic syndrome. Although SPS classically presents with truncal and appendicular stiffness and lumbar hyperlordosis, it can present focally in a single limb (termed stiff-limb syndrome). Here, we describe a woman with stiff-limb syndrome who initially presented with concerns about right foot swelling and pain. She also was positive for anti-GAD65 (anti-GAD2) antibodies. With treatment, she regained the ability to drive and ambulate without a walker, and she had a noted reduction in stimulus-induced spasms.
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Anemia Perniciosa , Diabetes Mellitus Tipo 1 , Síndrome de la Persona Rígida , Diabetes Mellitus Tipo 1/complicaciones , Femenino , Glutamato Descarboxilasa , Humanos , Síndrome de la Persona Rígida/complicaciones , Síndrome de la Persona Rígida/diagnósticoRESUMEN
Antiglutamic 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.
Asunto(s)
Amnesia Anterógrada , Epilepsia Refractaria , Encefalitis , Encefalitis Límbica , Síndrome de la Persona Rígida , Adolescente , Adulto , Autoanticuerpos , Niño , Encefalitis/complicaciones , Encefalitis/diagnóstico , Femenino , Glutamato Descarboxilasa , Humanos , Encefalitis Límbica/complicaciones , Encefalitis Límbica/diagnóstico , Imagen por Resonancia Magnética , Síndrome de la Persona Rígida/complicaciones , Síndrome de la Persona Rígida/diagnósticoRESUMEN
Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a subtype of stiff-person syndrome (formerly stiff-man syndrome). It is rare and disabling, and characterised by brainstem symptoms, muscle stiffness, breathing issues and autonomic dysfunction. We describe a 65-year-old man who presented with odynophagia together with tongue and neck swelling, followed by multiple cranial nerve palsies culminating in bilateral vocal cord paralysis with acute stridor. He subsequently developed progressive generalised hypertonia and painful limb spasms. Serum antiglycine receptor antibody was strongly positive, but antiglutamic acid decarboxylase and other antibodies relating to stiff-person syndrome were negative. We diagnosed PERM and gave intravenous corticosteroids and immunoglobulins without benefit; however, following plasma exchange he has made a sustained improvement.
Asunto(s)
Encefalomielitis , Mioclonía , Síndrome de la Persona Rígida , Anciano , Encefalomielitis/complicaciones , Humanos , Masculino , Rigidez Muscular/complicaciones , Mioclonía/complicaciones , Síndrome de la Persona Rígida/complicacionesRESUMEN
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.