RESUMEN
BACKGROUND AND PURPOSE: Clinical outcome information on patients with neuromuscular diseases (NMDs) who have been infected with SARS-CoV-2 is limited. The aim of this study was to determine factors associated with the severity of COVID-19 outcomes in people with NMDs. METHODS: Cases of NMD, of any age, and confirmed/presumptive COVID-19, submitted to the International Neuromuscular COVID-19 Registry up to 31 December 2021, were included. A mutually exclusive ordinal COVID-19 severity scale was defined as follows: (1) no hospitalization; (2) hospitalization without oxygenation; (3) hospitalization with ventilation/oxygenation; and (4) death. Multivariable ordinal logistic regression analyses were used to estimate odds ratios (ORs) for severe outcome, adjusting for age, sex, race/ethnicity, NMD, comorbidities, baseline functional status (modified Rankin scale [mRS]), use of immunosuppressive/immunomodulatory medication, and pandemic calendar period. RESULTS: Of 315 patients from 13 countries (mean age 50.3 [±17.7] years, 154 [48.9%] female), 175 (55.5%) were not hospitalized, 27 (8.6%) were hospitalized without supplemental oxygen, 91 (28.9%) were hospitalized with ventilation/supplemental oxygen, and 22 (7%) died. Higher odds of severe COVID-19 outcomes were observed for: age ≥50 years (50-64 years: OR 2.4, 95% confidence interval [CI] 1.33-4.31; >64 years: OR 4.16, 95% CI 2.12-8.15; both vs. <50 years); non-White race/ethnicity (OR 1.81, 95% CI 1.07-3.06; vs. White); mRS moderately severe/severe disability (OR 3.02, 95% CI 1.6-5.69; vs. no/slight/moderate disability); history of respiratory dysfunction (OR 3.16, 95% CI 1.79-5.58); obesity (OR 2.24, 95% CI 1.18-4.25); ≥3 comorbidities (OR 3.2, 95% CI 1.76-5.83; vs. ≤2; if comorbidity count used instead of specific comorbidities); glucocorticoid treatment (OR 2.33, 95% CI 1.14-4.78); and Guillain-Barré syndrome (OR 3.1, 95% CI 1.35-7.13; vs. mitochondrial disease). CONCLUSIONS: Among people with NMDs, there is a differential risk of COVID-19 outcomes according to demographic and clinical characteristics. These findings could be used to develop tailored management strategies and evidence-based recommendations for NMD patients.
Asunto(s)
COVID-19 , Enfermedades Neuromusculares , Humanos , Femenino , Persona de Mediana Edad , Masculino , SARS-CoV-2 , Enfermedades Neuromusculares/epidemiología , Sistema de Registros , OxígenoRESUMEN
BACKGROUND: Pediatric-onset multiple sclerosis (POMS) accounts for 3 to 10% of all MS diagnoses. POMS is usually characterized by prominent disease activity, and patients are at higher risk of developing physical disability and cognitive impairment. OBJECTIVE: This article characterizes a cohort of POMS patients followed at the pediatric neurology unit of a Portuguese tertiary hospital. METHODS: Retrospective observational study. Clinical records of all patients with POMS between 2011 and 2020 were revised. RESULTS: A total of 21 patients, with a female:male ratio of 11:10 and a mean age of onset of 14.8 years were included. Clinical manifestations at presentation included myelitis in eight patients (two with associated brainstem syndrome), optic neuritis in six (one with associated cerebellar syndrome), supratentorial symptoms in four, and isolated brainstem syndrome in two. Twenty patients had oligoclonal immunoglobulin G bands in cerebrospinal fluid. Supra- and infratentorial involvement was identified in the first brain magnetic resonance imaging of nine patients. Initial relapses were treated with intravenous steroids in 19 patients. The mean time for diagnosis was 2.8 months. Eleven patients were on first-line treatment (nine on ß-interferon, two on teriflunomide) and 10 on second-line treatment (six on natalizumab, three on fingolimod, one on ocrelizumab). The mean annual relapse rate was 0.29 (range, 0.01-3), and the median Expanded Disability Status Scale was 1. Four patients reported learning disabilities and/or cognitive deficits. CONCLUSION: About half of patients in this cohort were on second-line disease-modifying treatment, with 19% showing cognitive impairment. Efforts to establish an early diagnosis are crucial to improving these patients' outcomes.
Asunto(s)
Esclerosis Múltiple , Niño , Humanos , Masculino , Femenino , Adolescente , Esclerosis Múltiple/diagnóstico por imagen , Centros de Atención Terciaria , Encéfalo , Interferón beta/uso terapéutico , Tronco EncefálicoRESUMEN
BACKGROUND: Cognitive dysfunction as a predictor of clinical progression and mortality in multiple sclerosis (MS) is still a matter of debate. OBJECTIVE: The aim of this study was to explore the long-term outcome associated with neuropsychological performance in a cohort of patients with MS. METHODS: A series of 408 MS patients had previously undergone a comprehensive neuropsychological assessment and a contemporaneous neurological evaluation (T1). A retrospective review of the clinical records was conducted 102-192 months after T1. Demographic and clinical data regarding the last clinical appointment with EDSS measurement (T2) were collected and the date of the last clinical contact or death (TS) was recorded. RESULTS: This review revealed that cognitive dysfunction (T1) was associated with higher odds of transitioning from relapsing-remitting course to a progressive disease course (adjusted odds ratio (OR) = 2.29, p = 0.043) and higher hazard of death in the total sample (adjusted hazard ratio (HR) = 3.07, p = 0.006) and the progressive disease course subgroup (adjusted HR = 3.68, p = 0.007), even when adjusting for other covariates. DISCUSSION: The study results demonstrate that cognitive dysfunction in MS is predictive of poorer prognosis and mortality.
Asunto(s)
Disfunción Cognitiva , Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Disfunción Cognitiva/etiología , Progresión de la Enfermedad , Humanos , Esclerosis Múltiple/complicaciones , Pruebas Neuropsicológicas , Estudios RetrospectivosRESUMEN
INTRODUCTION: Some myasthenia gravis (MG) patients are refractory to conventional treatments. METHODS: To describe the clinical features of refractory MG (RMG) and explore the association with human leukocyte antigen HLA-DRB1 alleles, a cohort study of 114 consecutive MG patients was performed. Patients were classified as RMG based on predefined criteria. RESULTS: Twenty-two patients were found to have RMG (19.3%). There were no differences between non-RMG and RMG patients with respect to sex, age of onset, abnormal 3-Hz repetitive nerve stimulation, anti-acetylcholine receptor antibody positivity, thymectomy, thymoma or thymic hyperplasia, and polyautoimmunity. HLA-DRB1*03 was more frequent in the non-RMG vs. control population (P = 3 × 10-6 ). The HLA-DRB1*13 allele was less frequent in non-RMG patients compared with controls (P = 0.002), and less frequent in the non-RMG group compared with the RMG group (P = 0.003). DISCUSSION: HLA-DRB1*03 was more common in non-RMG, and the HLA-DRB1*13 allele appeared to have a protective role, as reported previously in other autoimmune disorders. Muscle Nerve 60: 188-191, 2019.
Asunto(s)
Cadenas HLA-DRB1/genética , Miastenia Gravis/genética , Adulto , Edad de Inicio , Autoanticuerpos/inmunología , Estudios de Casos y Controles , Estudios de Cohortes , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Miastenia Gravis/epidemiología , Miastenia Gravis/inmunología , Portugal/epidemiología , Factores Protectores , Receptores Colinérgicos/inmunología , Timectomía/estadística & datos numéricos , Timoma/epidemiología , Hiperplasia del Timo/epidemiología , Neoplasias del Timo/epidemiología , Adulto JovenRESUMEN
Allergic contact dermatitis (ACD) is a type IV, delayed-type reaction caused by skin contact with low-molecular-weight organic chemicals and metal ions that activate antigen-specific T cells, primarily T-helper 1 (Th1), in a sensitized individual, leading to skin eczema.First-line treatments are based on avoidance of causal agents and topical corticosteroids/immunomodulators. In recalcitrant cases, chronic oral immunosuppressive agents may be used, but they may have serious adverse effects and do not address the immunological disfunction. We report a case of severe ACD, unresponsive to topical or oral immunosuppressive therapy, which resolved itself after treatment with teriflunomide (TF) 14 mg/daily used for multiple sclerosis. TF is a once-daily, oral selective and reversible dihydroorotate dehydrogenase inhibitor, revealing a new treatment option for ACD.
Asunto(s)
Crotonatos/uso terapéutico , Dermatitis Alérgica por Contacto/tratamiento farmacológico , Eccema/tratamiento farmacológico , Toluidinas/uso terapéutico , Dermatitis Alérgica por Contacto/patología , Dihidroorotato Deshidrogenasa , Eccema/patología , Inhibidores Enzimáticos/uso terapéutico , Femenino , Humanos , Hidroxibutiratos , Persona de Mediana Edad , Nitrilos , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/antagonistas & inhibidores , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
BACKGROUND: Autoimmune hepatitis (AIH) is a rare and chronic inflammatory disorder associated with extrahepatic autoimmune diseases, including, infrequently, multiple sclerosis (MS). Short Reports: We report five cases of MS and AIH association. One patient developed AIH while under interferon beta-1b and the remaining while off disease-modifying therapy, although after methylprednisolone bolus in three. All presented a liver biopsy compatible with AIH. Hepatitis resolution was achieved with immunosuppressive treatment, but one patient died after a fulminant hepatitis requiring liver transplant. DISCUSSION: A thorough review of published cases supports this clear, although rare, association and a liver biopsy should be considered in AIH suspected cases.
Asunto(s)
Hepatitis Autoinmune/diagnóstico , Esclerosis Múltiple Recurrente-Remitente/diagnóstico , Adulto , Comorbilidad , Femenino , Hepatitis Autoinmune/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Esclerosis Múltiple Recurrente-Remitente/epidemiologíaAsunto(s)
Síndrome de Adie , Pupila Tónica , Humanos , Pupila Tónica/diagnóstico , Pupila , AutoanticuerposRESUMEN
INTRODUCTION: We evaluated the clinical course during pregnancy and neonatal outcomes of a cohort of Portuguese women with myasthenia gravis (MG). METHODS: Retrospective study. RESULTS: Twenty-five patients with 30 pregnancies were included. Mean maternal age was 32.4 ± 4.1 years. Miscarriage rate was 6.7%, with delivery of 28 newborns. Deterioration in MG during pregnancy occurred in 43.3%, and 46.4% occurred at postpartum. Eighty percent were medicated with pyridostigmine, 43.3% with corticosteroids, and 40% with intravenous immunoglobulin. There were no maternal or neonatal deaths. Mean gestational time at delivery was 38.2 weeks. No cases of fetal growth restriction, preeclampsia, preterm delivery, or fetal demise were observed. Global cesarean rate was 64.3%. Two newborns developed transient neonatal myasthenia. CONCLUSIONS: A high rate of clinical worsening of MG in the mother was observed in this retrospective study, which highlights the importance of a multidisciplinary approach for avoiding maternal adverse outcomes. Muscle Nerve 54: 715-720, 2016.
Asunto(s)
Miastenia Gravis/diagnóstico , Miastenia Gravis/epidemiología , Complicaciones del Embarazo/diagnóstico , Complicaciones del Embarazo/epidemiología , Efectos Tardíos de la Exposición Prenatal/diagnóstico por imagen , Efectos Tardíos de la Exposición Prenatal/epidemiología , Adulto , Femenino , Estudios de Seguimiento , Humanos , Recién Nacido , Miastenia Gravis/fisiopatología , Portugal/epidemiología , Embarazo , Complicaciones del Embarazo/fisiopatología , Efectos Tardíos de la Exposición Prenatal/fisiopatología , Estudios RetrospectivosRESUMEN
INTRODUCTION: In this study we estimated the prevalence, incidence, and mortality of myasthenia gravis (MG) in northern Portugal and characterized the clinical features of the patients identified. METHODS: We used 2 data sources: clinical records from the hospitals and pyridostigmine prescription registers. RESULTS: On December 31, 2013, we estimated a point prevalence of 111.7 patients per million population. The highest prevalence was observed in the group >65 years of age, especially in men (288.1 per million). During 2013, we estimated an incidence rate of 6.3 per million per year. Among women, the incidence rate was highest in the 15-49-year age group; in men, incidence increased with age up to 22.1 per million in those >65 years old. The MG-related mortality rate was 0.5 per million. CONCLUSIONS: These figures are in keeping with similar studies and emphasize the importance of diagnosis and management of MG in elderly populations. Muscle Nerve 54: 413-421, 2016.
Asunto(s)
Miastenia Gravis/epidemiología , Adolescente , Adulto , Distribución por Edad , Anciano , Anticuerpos/sangre , Niño , Preescolar , Bases de Datos Factuales , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Miastenia Gravis/sangre , Examen Neurológico , Portugal/epidemiología , Prevalencia , Proteínas Tirosina Quinasas Receptoras/inmunología , Receptores Colinérgicos/inmunología , Estudios Retrospectivos , Adulto JovenRESUMEN
BACKGROUND: In multiple sclerosis (MS), even in the absence of a clinical episode of optic neuritis (ON), the optic nerve and retinal nerve fiber layer (RNFL) may be damaged leading to dyschromatopsia. Subclinical dyschromatopsia has been described in MS associated with lower motor and cognitive performances. OBJECTIVES: To set the prevalence of dyschromatopsia in eyes of MS patients without a history of ON, to compare its prevalence in patients with and without ON history, and to explore the association between dyschromatopsia and disease duration, average peripapillary RNFL thickness, macular volume, and cognitive and motor performances. METHODS: An observational cross-sectional study was conducted at multiple medical centers. Data were collected after single neurological and ophthalmological evaluations. Dyschromatopsia was defined by the presence of at least 1 error using Hardy-Rand-Rittler plates. RESULTS: In our population of 125 patients, 79 patients (63.2%) never had ON and 35 (28.8%) had unilateral ON. The prevalence of dyschromatopsia in eyes of patients without ON was 25.7%. Patients with dyschromatopsia had a statistically significant lower RNFL thickness (P = 0.004 and P = 0.040, right and left eyes, respectively) and worse performance in symbol digit modalities test (P = 0.012). No differences were found in macular volume or motor function tasks. CONCLUSIONS: Dyschromatopsia occurs frequently in MS patients. It may be associated with a worse disease status and possibly serve as a marker for the detection of subclinical disease progression since it was detected even in the absence of ON. It correlated with thinner peripapillary RNFL thickness and inferior cognitive performance.
Asunto(s)
Defectos de la Visión Cromática/etiología , Visión de Colores/fisiología , Esclerosis Múltiple/complicaciones , Neuritis Óptica/complicaciones , Tomografía de Coherencia Óptica/métodos , Agudeza Visual , Adolescente , Adulto , Defectos de la Visión Cromática/diagnóstico , Defectos de la Visión Cromática/fisiopatología , Estudios Transversales , Progresión de la Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/diagnóstico , Fibras Nerviosas/patología , Nervio Óptico/patología , Neuritis Óptica/diagnóstico , Células Ganglionares de la Retina/patología , Adulto JovenRESUMEN
BACKGROUND: Recent data suggest that cognitive reserve modulates the adverse effects of multiple sclerosis (MS) pathology on cognitive functioning; however, the protective effects of education in MS are still unclear. OBJECTIVE: To explore education as an indicator of cognitive reserve, while controlling for demographic, clinical and genetic features. METHODS: A total of 419 MS patients and 159 healthy comparison (HC) subjects underwent a comprehensive neuropsychological (NP) assessment, and answered the Hospital Anxiety and Depression Scale. Based on the HC data, MS patients' NP scores were adjusted for sex, age and education; and the estimated 5(th) percentile (or 95(th) percentile, when appropriate) was used to identify any deficits. Patients also performed the Mini-Mental State Examination (MMSE); and their human leucocyte antigen HLA-DRB1 and apolipoprotein E (ApoE) genotypes were investigated. RESULTS: Patients with higher education were less likely (p < 0.05) to have cognitive deficits than those with lower education, even when controlling for other covariates. Other significant predictors of cognitive deficit were: age, Expanded Disability Status Scale (EDSS), Multiple Sclerosis Severity Scale (MSSS), and a progressive course. No significant association was found with the HLA-DRB1*15:01 or ApoE ε4 alleles. CONCLUSIONS: These results provide support to the use of education as a proxy of cognitive reserve in MS and stress the need to take into account education when approaching cognition in MS.
Asunto(s)
Cognición/fisiología , Educación , Predisposición Genética a la Enfermedad , Genotipo , Esclerosis Múltiple/genética , Esclerosis Múltiple/psicología , Adolescente , Adulto , Anciano , Reserva Cognitiva/fisiología , Evaluación de la Discapacidad , Femenino , Humanos , Masculino , Memoria/fisiología , Persona de Mediana Edad , Esclerosis Múltiple/terapia , Pruebas Neuropsicológicas , Índice de Severidad de la Enfermedad , Adulto JovenRESUMEN
INTRODUCTION: Behçet's disease (BD) is a multisystem inflammatory disease of unknown etiology that may affect the CNS - Neuro-Behçet (NB). Our aim was to evaluate the frequency of neurological involvement and characterize a cohort of our NB patients. METHODS: We retrospectively revised the clinical, laboratory and imaging data of a cohort of BD patients, followed in our hospital outpatient clinic. RESULTS: We identified 138 BD patients. Twenty-five out of 138 had NB (15 female). Four patients presented with neurological symptoms. We identified a total of 37 attacks. Twenty-one attacks were classified as parenchymatous, four non-parenchymatous and 12 as other syndromes. Seventeen patients had CSF analysis performed (20 samples). Five samples were normal, 15 showed CSF pleocytosis. The most frequent finding on MRI performed in the acute phase was extensive lesions involving the brainstem. Two patients died due to the neurological involvement of BD. CONCLUSION: We found 18.1% prevalence of NB and a higher female-to-male ratio in our group than in other series. Gastrointestinal and vascular involvement was more frequent in the NB group. The fact that neurological involvement may be the first manifestation of BD with therapeutic implications and associated morbidity points out the relevance of an early diagnosis.
Asunto(s)
Síndrome de Behçet/patología , Tronco Encefálico/patología , Adulto , Síndrome de Behçet/complicaciones , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Portugal , Estudios RetrospectivosRESUMEN
Primary Sjögren syndrome (pSS) is a systemic autoimmune disease characterized by lymphocytic infiltration of the salivary and tear glands, and autoantibody secretion, in the absence of other systemic autoimmune disorder. Among autoimmune diseases, it is a relatively common disease, but the burden of central nervous system (CNS) involvement is controversial. This retrospective study evaluates the prevalence, clinical patterns and outcomes of CNS involvement in a cohort of patients with primary Sjögren syndrome. We evaluated 93 patients with pSS diagnosed according to American-European Consensus Group criteria. Fourteen patients (15.1 %) had CNS involvement. All were women with an average age of onset of the disease of 42.1 ± 14.7 years (average ± SD) and an average age of onset of neurological involvement of 47.29 ± 16 years. Three had parkinsonian syndrome, two epilepsy, two motor and sensory deficits, two headache with brain magnetic resonance abnormalities, two neuromyelitis optica, two chronic progressive myelitis and one aseptic meningitis. Neurological involvement preceded Sjögren syndrome diagnosis in nine of the patients (64 %), and neurological outcome was good in 11 patients (78.6 %). Central nervous involvement was not as rare as expected, and the frequency was similar to the frequency of peripheral nervous system involvement. In half of the patients, this was the first symptom of the disease, emphasizing the importance of considering this diagnosis, especially in young female with neurological symptoms without other evident cause.
Asunto(s)
Enfermedades del Sistema Nervioso Central/epidemiología , Síndrome de Sjögren/epidemiología , Adolescente , Adulto , Anciano , Autoanticuerpos/inmunología , Encéfalo/patología , Enfermedades del Sistema Nervioso Central/inmunología , Estudios de Cohortes , Epilepsia/epidemiología , Femenino , Cefalea/epidemiología , Cefalea/patología , Humanos , Imagen por Resonancia Magnética , Masculino , Meningitis Aséptica/epidemiología , Persona de Mediana Edad , Mielitis/epidemiología , Neuromielitis Óptica/epidemiología , Trastornos Parkinsonianos/epidemiología , Prevalencia , Estudios Retrospectivos , Trastornos de la Sensación/epidemiología , Síndrome de Sjögren/inmunología , Adulto JovenRESUMEN
BACKGROUND: Baló's concentric sclerosis (BCS) is a rare variant of multiple sclerosis characterized by unique pathological features of alternating demyelination and preserved myelin. OBJECTIVES: To describe two cases of BCS, radiological and pathological findings and its clinical course. RESULTS: We report two distinct cases of BCS that presented with unique MRI findings suggestive of BCS, but with different clinical courses and responses to treatment. The first case demonstrated substantial recovery following corticosteroid therapy, while the second case, initially suspected to be a malignant tumour, showed improvement after surgical intervention and immunoglobulin therapy. CONCLUSION: These cases highlight the variability in presentation and course of BCS, underscoring the challenges in diagnosis and the importance of considering BCS in the differential diagnosis of demyelinating and tumefactive lesions. The cases also emphasize the potential for favourable outcomes with appropriate management, challenging the traditional view of BCS as uniformly severe.
Asunto(s)
Esclerosis Cerebral Difusa de Schilder , Humanos , Esclerosis Cerebral Difusa de Schilder/diagnóstico por imagen , Esclerosis Cerebral Difusa de Schilder/patología , Imagen por Resonancia MagnéticaRESUMEN
Introduction: Early-onset (EOMG) and late-onset (LOMG) are distinct groups of MG patients. It is unclear if treatment strategies and treatment-related adverse events may differ according to the age of MG onset. Methods: This single-center retrospective study includes all MG patients followed at a tertiary center since 2007. We reviewed the electronic clinical records. Results: In total, 212 patients were identified, 142 (67.0%) females, with a median disease duration of 10 years. The median age of symptom onset was 42.0 (26.0-64.5) years, with 130 (61.3%) EOMG cases and 82 (38.7%) LOMG. EOMG were more frequently female, had longer disease duration and often more generalized MG (p < 0.001). Comorbidities were significantly more frequent in LOMG (67.1%) compared to EOMG (53.1%) (p = 0.002). Steroid-related adverse effects motivating the switch to steroid-sparing agents (82.0%) were different between groups, with hypertension, hypercholesterolemia, diabetes mellitus and malignancies being more common in LOMG. At the same time, osteoporosis and dyspepsia were more frequent in EOMG (p < 0.001). The most common first-line choice was azathioprine (45.8%), and rituximab was used in 4 patients (1.9%). Conclusion: Our study shows that treatment modalities are similar between EOMG and LOMG, while steroid-related adverse events appear to be distinct.
RESUMEN
Background: Anti-titin antibodies have been previously associated with thymoma-associated myasthenia gravis (MG) and a more clinically severe form of MG. While currently only serving as a disease biomarker, its possible utility as an indicator of underlying thymus malignancy may be of value in clinical practice. Methods: Data was retrospectively collected and analyzed from 2013 to 2022 using an institutional record of MG patients. Anti-titin antibodies were assessed using Line Blot immunoassay. Results: From 130 MG cases, 32 (24.6%) were anti-titin positive. Anti-titin positive cases were associated with older age of disease onset [median (IQR): 63.0 (44.3-70.8) vs. 35.5 (24.8-60.8) years] (P<0.01). Thymectomy was performed in 46 (35.4%) MG patients, 12 of which anti-titin positive (26.1%). Thymectomy samples from anti-titin positive patients comprised 10 (83.3%) cases of thymoma and 2 (16.7%) cases of thymus hyperplasia. There was a tendency towards anti-titin positive patients having more thymoma while anti-titin negative displayed more hyperplasia (P<0.01). Anti-titin positivity correlated with thymoma in patients with age of onset bellow 50 years (P=0.028). Anti-titin positivity was significantly associated with generalized MG in the late-onset group (P=0.005). Conclusions: The presence of anti-titin antibodies appears to correlate with underlying thymoma in early-onset MG cases and with generalized MG in late-onset cases. Prospective studies are needed to further study this association.
RESUMEN
A Consensus of Psychoimmunology Experts (Pollak et al., 2019) established a set of red flags and proposed diagnostic criteria for psychosis of autoimmune origin (AIP). Previous studies on AIP are limited by the scarcity of CSF analysis, preventing the valorization of blood anti-neuronal antibodies (Ab). The aims of this study are to determine the relative frequency and characterize AIP in a cohort of psychotic patients that underwent CSF workup. This work is a retrospective study in a tertiary psychiatric hospital. Clinical and paraclinical data were collected from medical records, and patients were classified according to Pollak et al. (2019) criteria. From 68 patients, ten (14.7%) had positive anti-neuronal antibodies (Ab): n = 5 in CSF and blood (n = 4 anti-NMDAr, n = 1 -GAD65), and n = 5 in blood only (n = 1 anti-GABAb, n = 1 -GAD65, n = 1 -SOX1, n = 1 -NMDAr, n = 1 -zic4). After 5- (2-10)-year follow-up, n = 6/68 (8.8%) had AIP diagnosis in context of autoimmune encephalitis (AE), and the remaining (n = 4/10, blood-only Ab) alternative diagnoses (n = 2 dementia, n = 1 schizophrenia, n = 1 intellectual disability). Ten of the 13 patients that fulfilled criteria for possible AIP were mimics, and only three AE had criteria for probable AIP. All AIP developed neurological manifestations (mostly cognitive dysfunction); EEG was usually abnormal (66.7%), and all had normal MRI. We found statistically significant associations between AIP/AE and systemic autoimmune disease, presentation with seizures and EEG abnormalities. All AE developed neurological symptoms alongside psychosis. Ab positivity occurred predominantly in AE but also in other neuropsychiatric disorders. Clinical suspicion based on the knowledge of the described presentations of established Ab is crucial in the psychotic patient approach.
Asunto(s)
Autoanticuerpos , Trastornos Psicóticos , Centros de Atención Terciaria , Humanos , Estudios Retrospectivos , Masculino , Femenino , Autoanticuerpos/sangre , Autoanticuerpos/líquido cefalorraquídeo , Autoanticuerpos/inmunología , Trastornos Psicóticos/diagnóstico , Trastornos Psicóticos/inmunología , Persona de Mediana Edad , Adulto , Hospitales Psiquiátricos , Anciano , Encefalitis/diagnóstico , Encefalitis/inmunología , Encefalitis/líquido cefalorraquídeo , Encefalitis/sangre , Enfermedad de Hashimoto/diagnóstico , Enfermedad de Hashimoto/inmunología , Enfermedad de Hashimoto/líquido cefalorraquídeo , Enfermedad de Hashimoto/sangre , Neuronas/inmunologíaRESUMEN
INTRODUCTION: Neurological involvement in immunoglobulin G4-related disease (IgG4-RD) is increasingly recognized. Its diagnosis can be challenging due to clinical mimics and difficulty in obtaining nervous system biopsies. The aim of this study was to describe a cohort of neurological IgG4-RD patients. METHODS: Patients were recruited from a neuroimmunology tertiary center. Clinical, laboratory, neuroimaging and histological data were reviewed. RESULTS: Fifteen patients (60% women), with a median age of 53 years (48.5 - 65.0) were included: 13 (86.7%) classified as possible IgG4-RD, one (6.7%) as probable and one (6.7%) as definitive. The most common neurological phenotypes were meningoencephalitis (26.7%), orbital pseudotumor (13.3%), cranial neuropathies (13.3%), peripheral neuropathy (13.3%), and longitudinally extensive transverse myelitis (LTEM) (13.3%). Median serum IgG4 concentration was 191.5 (145.0 - 212.0) mg/dL. Seven in 14 patients had CSF pleocytosis (50.0%) and oligoclonal bands restricted to the intrathecal compartment, while most cases presented elevated CSF proteins (64.3%). Magnetic resonance imaging abnormalities included white matter lesions in four (26.7%), hypertrophic pachymeningitis in two (13.3%), and LETM in two (13.3%). Two patients had biopsy-proven IgG4-RD in extra-neurological sites. CONCLUSION: This study highlights the phenotypical variability of the neurological IgG4-RD. Biopsy inaccessibility reinforces the importance of new criteria for the diagnosis of this subset of patients.