Autoimmune encephalitis in a resource-limited public health setting: a case series analysis / Encefalite autoimune em um hospital universitário público: análise de uma série de casos

Abstract Background Autoimmune encephalitis (AE) consists of a group of acquired diseases that affect the central nervous system. A myriad of phenotypes may be present at the onset. Due to the heterogeneity of clinical presentations, it is difficult to achieve uniformity for the diagnostic and therapeutic processes and follow-up strategies. Objective To describe a series of patients diagnosed with AE in a resource-limited public hospital in southern Brazil and to analyze therapeutics and outcomes. Methods We retrospectively reviewed the electronic medical records of patients diagnosed with AE at the Hospital de Clínicas de Porto Alegre from 2014 to 2022. Data collected included clinical presentation, neuroimaging, cerebrospinal fluid testings, electroencephalogram, autoantibodies, treatments, outcomes, follow-up time, degree of neurological impairment, and mortality. Results Data from 17 patients were retrieved. Eleven cases were classified as definite AE and 6 as possible AE. Autoantibodies were identified in 9 patients. Timing for diagnosis was impacted by the high costs associated with autoantibody testing. Most patients became functionally dependent (82.4%) and most survivors remained with autoimmune-associated epilepsy (75%). Five patients died during hospitalization, and one after a 26-month of follow-up. Conclusion In this resource-limited hospital, patients with AE had a worse clinical outcome than that previously described in the literature. Development of epilepsy during follow-up and mortality were greater, whilst functional outcome was inferior. Autoantibody testing was initially denied in most patients, which impacted the definitive diagnosis and the use of second-line therapies.

Resumo Antecedentes A encefalite autoimune (EA) consiste em um grupo de doenças adquiridas que afetam o sistema nervoso central. Objetivo Descrever uma série de pacientes diagnosticados com EA em um contexto de atenção terciária à saúde com recursos limitados e analisar a terapêutica e os resultados. Métodos Revisamos retrospectivamente os prontuários eletrônicos de pacientes diagnosticados com EA no Hospital de Clínicas de Porto Alegre de 2014 a 2022. Os dados coletados incluíram apresentação clínica, neuroimagem, exames de líquido cefalorraquidiano, eletroencefalograma, autoanticorpos, tratamentos, resultados, tempo de acompanhamento, grau de comprometimento neurológico e mortalidade. Resultados Dados de 17 pacientes foram coletados. Onze casos foram classificados como EA definitivo e seis como EA possível. Autoanticorpos foram identificados em nove pacientes. O tempo para o diagnóstico foi afetado pelos altos custos associados ao teste de autoanticorpos. A maioria dos pacientes tornou-se funcionalmente dependente (82,4%), e a maioria dos sobreviventes permaneceu com epilepsia autoimune associada (75%). Cinco pacientes faleceram durante a internação, e um após 26 meses de seguimento. Conclusão No hospital em questão, os pacientes com EA tiveram um desfecho clínico pior do que o previamente descrito na literatura. O desenvolvimento de epilepsia durante o acompanhamento e a mortalidade foram maiores, enquanto o desfecho funcional foi inferior. Os testes de autoanticorpos foram inicialmente negados para a maioria dos pacientes, o que impactou o diagnóstico definitivo e o uso de terapias de segunda linha.

Linfoma de Hodgkin: neuronopatía sensitiva y autonómica como manifestación paraneoplásica / Hodgkin's lymphoma: sensitive and autonomic neuropa thy as a paraneoplastic manifestation

Resumen El linfoma de Hodgkin (LH) comprende un grupo heterogéneo de neoplasias linfoides cuyo origen radica en linfocitos B. Las manifestaciones neurológicas de dicha enfermedad son infrecuentes, pudiendo tener su origen por invasión directa de las células neoplásicas en el sistema nervioso, o indirectamente, a través de síndromes paraneoplásicos o como complicación del tratamiento. Dentro de los síndromes neurológicos paraneoplásicos que afectan a pacientes con LH, la degeneración cerebelosa paraneoplásica es la más frecuente. Otros reportados con menor frecuencia en series de casos o casos aislados incluyen encefalitis límbica, neuronopatía sensitiva, motora y autonómica. Estos pueden ser la manifestación inicial de la enfer medad neoplásica, y la falta de conocimiento de dicha asociación puede retrasar el diagnóstico, con inicio tardío del tratamiento y peor pronóstico. Reportamos el caso de una mujer con LH que presentó al inicio de su enfermedad neuronopatía sensitiva y autonómica como manifestaciones neurológicas paraneoplásicas. Una vez iniciado el tratamiento específico para su lin foma, la neuronopatía autonómica tuvo resolución casi completa a diferencia de la neuronopatía sensitiva, la cual demostró escasa recuperación.

Abstract Hodgkin lymphoma (HL) comprises a heterogeneous group of lymphoid neoplasms whose origin lies in B lym phocytes. The neurological manifestations of this pathol ogy are infrequent, and may arise from direct invasion of neoplastic cells to the nervous system, or indirectly, through paraneoplastic syndromes or as a complication of treatment. Among the neurological paraneoplastic syndromes that affect patients with HL, paraneoplastic cerebellar degeneration is the most common. Other few cases include limbic encephalitis, sensory, motor, and autonomic neuronopathy. These syndromes can be the initial manifestation of neoplastic disease, and the lack of information regarding this association can lead to a delay in diagnosis and consequently in the initiation of therapy worsening the prognosis. We report the case of a woman with HL who presented sensory and autonomic neuronopathy at the onset of her disease as paraneo plastic neurological manifestations. After the initiation of the specific treatment for the lymphoma, the autonomic neuronopathy had almost complete resolution, unlike the sensory neuronopathy, which showed limited recovery.

Melanoma uveal

Introducción: El melanoma uveal, es el cáncer intraocular más común en adultos, representa cerca del 3 % al 5 % de todos los melanomas; con un pico de incidencia en hombres en la sexta década de la vida. Objetivo: Describir la presentación clínica, diagnóstico y tratamiento de una paciente con melanoma uveal. Caso clínico: Paciente femenina de 39 años de edad, con antecedentes de salud, quien acudió a consulta por presentar dolor intenso de doce días de evolución localizado en el ojo derecho, asociado a pérdida de la visión, dolor a los movimientos oculares, astenia y anorexia. Al examen físico se encontró edema palpebral severo, abundantes secreciones mucopurulentas, quémosis conjuntival en 360 grados marcado e hiperemia cilio-conjuntival en el ojo derecho. Se realizaron estudios analíticos e imagenológicos. Al analizar el resultado de la exploración física y los complementarios se decidió la intervención quirúrgica consistente en la exenteración orbitaria derecha, esfenoidectomía y etmoidectomía transorbitaria derecha. Con una evolución satisfactoria fue egresada del centro hospitalario. La biopsia informó un melanoma coroideo. Conclusiones: El melanoma coroideo es una enfermedad ocular poco frecuente en mujeres jóvenes de piel negra. La sintomatología es extremadamente variable con las masas coroideas. Es importante conocer sus características, pues estos efectos clínicos sirven como un recordatorio para los oftalmólogos para incluirla en el diagnóstico diferencial de otras patologías oculares.

Introduction: Uveal melanoma is the most common intraocular cancer in adults, represents approximately 3 % to 5 % of all melanomas; with a peak incidence in men in the sixth decade of life. Objective : To describe the clinical presentation, diagnosis and treatment of a patient with uveal melanoma. Clinical case: A 39-year-old female patient, with a health history, who came to the consultation due to intense pain of twelve days of evolution located in the right eye, associated with loss of vision, pain with eye movements, asthenia and anorexy. Physical examination revealed severe palpebral edema, abundant mucopurulent secretions, marked 360-degree conjunctival chemosis, and cilio-conjunctival hyperemia in the right eye. Analytical and imaging studies were performed. When analyzing the results of the physical and complementary examination, the surgical intervention consisting of right orbital exenteration, sphenoidectomy and right transorbital ethmoidectomy was decided. With a satisfactory evolution, she was discharged from the hospital. Biopsy reported choroidal melanoma. Conclusions: Choroidal melanoma is a rare ocular entity in young black women. Symptomatology is extremely variable with choroidal masses. It is important to know its characteristics, since these clinical effects serve as a reminder for ophthalmologists to include it in the differential diagnosis of other ocular pathologies.

Mielopatias inflamatórias / Inflammatory myelopathies / Mielopatías inflamatorias

Mielopatia inflamatória ou mielite transversa é uma síndrome neurológica potencialmente incapacitante com uma variedade de etiologias. Episódios únicos ou recorrentes podem resultar em dependência de cadeira de rodas. O quadro clínico de fraqueza, alteração de sensibilidade e disfunção autonômica de início agudo ou subagudo é marca dessa síndrome. Esse cenário é comum às diferentes etiologias, que podem ser de natureza desmielinizante, por doença autoimune sistêmica, paraneoplásica ou infecciosa. A ressonância magnética de coluna é o exame de neuroimagem de escolha. Exames complementares como avaliação do líquido cefalorraquidiano, testes sorológicos e pesquisa de anticorpos dão suporte à investigação. A depender da etiologia, há tratamentos específicos a fim de reduzir incapacidade e chance de novos surtos, além de diferentes prognósticos. Este trabalho objetiva uma revisão de literatura sobre mielopatias inflamatórias e suas principais etiologias, a partir de dados obtidos na plataforma eletrônica PubMed. Para a discussão, foram revisadas as etiologias desmielinizantes (encefalomielite disseminada aguda, esclerose múltipla, doença do espectro, neuromielite óptica e neurite óptica, encefalite e mielite associadas ao MOG-IgG); doenças autoimunes (lúpus eritematoso sistêmico e síndrome de Sjögren); síndromes paraneoplásicas e mielopatias infecciosas (neuroesquistossomose, mielite por HIV e por HTLV-1 e neurossífilis). Concluiu-se com este estudo que a mielopatia inflamatória é uma condição de gravidade variável que produz potencial incapacidade, causada por diferentes etiologias, porém com quadro clínico comum entre elas. Por isso, é importante conhecer cada uma dessas causas, a fim de promover o melhor e mais precoce tratamento e reduzir sequelas.

Inflammatory myelopathy or transverse myelitis is a potentially disabling neurological syndrome with various etiologies. Single or recurrent episodes can result in wheelchair dependence. A clinical picture of weakness, altered sensitivity, and autonomic dysfunction with acute or subacute onset is characteristic of this syndrome. This scenario is common to different etiologies, which can be of a demyelinating nature, due to systemic, paraneoplastic, or infectious autoimmune disease. Spine MRI is the neuroimaging test of choice. Complementary tests such as cerebrospinal fluid evaluation, serological tests and antibody research support the investigation. Depending on the etiology, there are specific treatments to reduce disability and the chance of new episodes, and different prognoses. This study is a literature review on inflammatory myelopathies and their main etiologies, based on data obtained from the PubMed database. Demyelinating etiologies (acute disseminated encephalomyelitis, multiple sclerosis, neuromyelitis optic spectrum disease and optic neuritis, MOG-IgG-associated encephalitis and myelitis), autoimmune diseases (systemic lupus erythematosus and Sjögren's syndrome), paraneoplastic syndromes and infectious myelopathies (neuroschistosomiasis, HIV and HTLV-1 myelitis, and neurosyphilis) were reviewed for discussion. In conclusion, inflammatory myelopathy is a condition of variable severity that produces potential disability, caused by different etiologies, but with a common clinical picture between them. Thus, knowledge on each of these causes is important to promote the best and earliest treatment and reduce sequelae.

La mielopatía inflamatoria o mielitis transversa es un síndrome neurológico potencialmente incapacitante con una variedad de etiologías. Los episodios únicos o recurrentes pueden tener como consecuencia dependencia de silla de ruedas. El cuadro clínico de debilidad, sensibilidad alterada y disfunción autonómica de inicio agudo o subagudo es distintivo de este síndrome. Esto es común a diferentes etiologías, que pueden ser de naturaleza desmielinizante, debido a enfermedades autoinmunes sistémicas, paraneoplásicas o infecciosas. La resonancia magnética de columna es la prueba de neuroimagen de elección. Las pruebas complementarias, como la evaluación del líquido cefalorraquídeo, las pruebas serológicas y la investigación de anticuerpos respaldan la investigación. Dependiendo de la etiología, existen tratamientos específicos para reducir la discapacidad y la posibilidad de nuevos brotes, además de diferentes pronósticos. Este trabajo tiene como objetivo revisar la literatura sobre mielopatías inflamatorias y sus principales etiologías desde los datos obtenidos de la base de datos electrónica PubMed. Se revisaron las etiologías desmielinizantes (encefalomielitis aguda diseminada, esclerosis múltiple, enfermedad del espectro, neuromielitis óptico y neuritis óptica, encefalitis y mielitis asociadas a MOG-IgG), las enfermedades autoinmunes (lupus eritematoso sistémico y síndrome de Sjögren), los síndromes paraneoplásicos y mielopatías infecciosas (neurosquistosomiasis, mielitis por VIH y HTLV-1 y neurosífilis). Se concluyó que la mielopatía inflamatoria es una condición de severidad variable, que produce potencial discapacidad causada por diferentes etiologías, pero tiene un cuadro clínico común entre ellas. Por ello, es importante conocer cada una de las causas para promover el mejor y más precoz tratamiento, además de reducir las secuelas.

Síndrome de hipersecreción de lipasa y lesiones óseas en el cáncer de células acinares del páncreas / Lipase hypersecretion syndrome and bone lesions in acinar cell cancer of the pancreas. Report of one case

Lipase hypersecretion syndrome (LHS) is a rare paraneoplastic syndrome, associated with acinar cell carcinoma of the pancreas (ACCP) in 10% to 15% of patients. Clinically, LHS manifests itself with the appearance of subcutaneous fibrocystic nodules, associated with trophic changes in the overlying skin, such as ulcers or fistulas that are difficult to manage, mainly affecting the lower extremities. Additionally, lipolysis near the joints and in the intraosseous adipose tissue can cause bilateral arthralgias, especially of the knees and ankles. We report a 57-year-old man, with a history of insulin resistance and allergic rhinitis, who presented in June 2019 with multiple subcutaneous nodules in the lower extremities, predominantly in both ankles, associated with arthralgia in that region. Additionally, a CT scan of the abdomen revealed a significant abdominal mass, measuring approximately 17 cm and in contact with the body and tail of the pancreas, pathologically compatible with an ACCP. Treatment with capecitabine was started with a favorable progression. The patient currently presents a small left lateral retro malleolar fistula, which, given the analyzes, studies and reviewed literature is concluded to be a lesion in the context of LHS.

A critical review and update on autoimmune encephalitis: understanding the alphabet soup / Revisão crítica e atualizações em encefalites autoimunes: entendendo a sopa de letrinhas

ABSTRACT Autoimmune encephalitis (AE) comprises a group of diseases mediated by antibodies against neuronal cell surface or synaptic antigens, such as ion channels or neurotransmitter receptors. New clinical syndromes and their associated antibodies were and are still being characterized over the last two decades. The fact that their main clinical features are interdisciplinary, - encompassing neuropsychiatric symptoms, cognitive dysfunction, epileptic seizures, movement and sleep disorders - has led to a surge of interest in this field. Some of these diseases present with a well-defined syndrome, being recognizable on clinical grounds. Correct diagnosis is important since AE are potentially treatable diseases, despite their severity. On the other hand, an increasing number of neuronal antibodies being described casts doubt upon the way we should utilize antibody testing and interpret results. In this article we review, summarize and update the current knowledge on antibody mediated encephalitis.

RESUMO As encefalites autoimunes compreendem um grupo de doenças mediadas por anticorpos contra antígenos de superfície neuronal ou sinapse, como canais iônicos ou receptores de neurotransmissores. Novas síndromes clínicas e os anticorpos a elas associados foram e ainda estão sendo caracterizados ao longo das últimas duas décadas. Dado que suas principais características clínicas são interdisciplinares, isto é, incluem -se sintomas neuropisquiátricos, disfunção cognitiva, crises epilépticas, distúrbio do movimento e do sono, há uma grande onda de interesse sobre esse campo de conhecimento. Algumas dessas doenças apresentam-se com uma síndrome bem definida, sendo possível reconhecê-las clinicamente. Diagnosticá-las corretamente é importante uma vez que se trata de doenças potencialmente tratáveis apesar da gravidade que lhes é característica. Por outro lado, o número crescente de anticorpos sendo descritos causam dúvida frequente sobre qual o melhor teste a solicitar e como interpretá-los. Nós aqui apresentamos uma revisão atualização resumida do conhecimento atual sobre as encefalites mediadas por anticorpos.

Eritema multiforme como manifestación paraneoplásica de un adenocarcinoma de colon

RESUMEN: El eritema multiforme es una enfermedad autoinmune vesicular-ampollosa y autolimitada, se presenta de forma aguda afectando la piel y mucosa. En 2015, Lee E. y Freer J., incluyeron esta enfermedad dentro de los síndromes dermatológicos paraneoplásicos, pero actualmente no existen muchas publicaciones de esta entidad como manifestación a una neoplasia subyacente. El objetivo de esta investigación es presentar el eritema multiforme como una manifestación paraneoplásica inusual. En este caso una paciente de 64 años de edad que cursaba con adenocarcinoma de colon exhibió el eritema multiforme oral; cuyas manifestaciones bucales involucionaron gracias a la farmacoterapia local y sistémica en conjunto con la excéresis de la lesión cancerosa en el colon. Es importante reconocer la presencia de eritema multiforme como una manifestación paraneoplásica cuando no se exhiben los factores etiológicos frecuentes de esta patología y, por lo tanto, centrarse en la búsqueda subyacente de neoplasias malignas que no son muy evidentes.

ABSTRACT: Erythema multiforme is a self-limiting, blistering, autoimmune disease that presents acutely, affecting the skin and mucosa. In 2015, Lee E. and Freer J. included this disease in paraneoplastic dermatological syndromes, but there are currently not many publications about this entity as a manifestation of an underlying malignancy. The objective of this research is to present the erythema multiforme as an unusual paraneoplastic manifestation. In this case, a female 64-year-old patient with colon adenocarcinoma exhibited oral multiform erythema; whose oral manifestations regressed thanks to local and systemic pharmacotherapy in conjunction with the exeresis of the cancerous lesion in the colon. It is important to recognize the presence of erythema multiforme as a paraneoplastic manifestation when the frequent etiological factors of this pathology are not exhibited and, therefore, to focus on the underlying search for malignant neoplasms that are not very evident.

Comportamiento de las dermatosis paraneoplásicas en pacientes oncológicos. Cienfuegos, 2016-2017

RESUMEN Fundamento Las dermatosis paraneoplásicas son poco frecuentes, y acerca de ellas no existen estudios previos en la provincia de Cienfuegos. De su correcto reconocimiento depende en ocasiones el diagnóstico oportuno de una posible neoplasia interna. Objetivo describir el comportamiento de las dermatosis paraneoplásicas en pacientes oncológicos. Métodos estudio descriptivo, realizado en pacientes con neoplasias malignas, atendidos durante el período de junio de 2016 a diciembre de 2017, en el Hospital Dr. Gustavo Aldereguía Lima, de Cienfuegos. Fueron incluidos 59 pacientes con dermatosis paraneoplásicas, para los cuales se analizó tipo de dermatosis, momento de aparición y su asociación con cada tipo de neoplasia. La información se obtuvo a través del exámen clínico dermatológico y las historias clínicas. Resultados se identificaron 17 tipos de dermatosis paraneoplásicas, con destaque del signo Leser Trélat (21,0 %), seguido del Síndrome de Sweet (16,1 %) y el pioderma gangrenoso (11,3 %). En 25 (42,4 %) pacientes estas fueron detectadas antes del diagnóstico de neoplasias, entre las cuales el linfoma (86,7 %) fue la más representativa, seguido por las neoplasias de colon y mamas, aunque también se asociaron a Síndrome de Sweet y a pioderma gangrenoso. Conclusión Reconocer las lesiones características de las dermatosis paraneoplásicas facilita la detección precoz de un cáncer oculto, cuyas manifestaciones propias, probablemente, aparecerían meses después, incluso años.

ABSTRACT Background Paraneoplastic dermatoses are rare, and about them there are no previous studies in the Cienfuegos province. The timely diagnosis of a possible internal neoplasm sometimes depends on its correct recognition. Objective to describe the behavior of paraneoplastic dermatoses in cancer patients. Methods descriptive study, carried out in patients with malignant neoplasms, treated from June 2016 to December 2017, at the Dr. Gustavo Aldereguía Lima Hospital, in Cienfuegos. Fifty-nine patients with paraneoplastic dermatosis were included, for which the type of dermatosis, time of appearance and its association with each type of neoplasia were analyzed. The information was obtained through the clinical dermatological examination and the medical records. Results 17 types of paraneoplastic dermatoses were identified, highlighting the Leser Trélat sign (21.0%), followed by Sweet's syndrome (16.1%) and pyoderma gangrenosum (11.3%). In 25 (42.4%) patients these were detected before the diagnosis of neoplasms, among which lymphoma (86.7%) was the most representative, followed by colon and breast neoplasms, although they were also associated with Syndrome of Sweet and a pyoderma gangrenosum. Conclusion Recognizing the characteristic lesions of paraneoplastic dermatoses facilitates the early detection of a hidden cancer, whose own manifestations would probably appear months later, even years.

Anti-retinal antibodies and their role in autoimmune retinopathy / 中华实验眼科杂志

Autoimmune retinopathy (AIR) is a group of immune-mediated retinopathies that usually results in severe loss of vision and visual field defects.AIR mainly includes paraneoplastic and non-paraneoplastic syndromes.One main feature of AIR is the presence of circulating anti-retinal antibodies (ARAs) in peripheral blood, which are produced through anti-tumor responses, anti-microbial responses, and immune responses induced by autoantigen fragments following retinal injury, and mainly attack retinal photoreceptor cells.ARAs are important for the diagnosis, progression assessment and treatment outcome of AIR.These ARAs often appear before the diagnosis of cancer and can be helpful for the early detection of malignant tumors.The mechanism of ARAs production, its pathological role in AIR, and its significance in clinical practice were reviewed in this article.

Research progress of autoimmune retinopathy / 中华实验眼科杂志

Autoimmune retinopathy (AIR) is a rare immune retinopathy characterized by decreased visual acuity, scotoma, visual field defect, and photoreceptor dysfunction.AIR is divided into paraneoplastic AIR (pAIR) and non-neoplastic AIR (npAIR). pAIR is further divided into cancer-associated retinopathy (CAR), melanoma-associated retinopathy (MAR), and bilateral diffuse uveal melanocytic proliferation (BDUMP). Circulating anti-retinal antibodies often exist in peripheral blood of patients with various types of AIR, accompanied by electroretinogram abnormalities, but no significant abnormality in fundus examination (except BDUMP). A variety of anti-retinal antibodies such as anti-recoverin protein antibody and anti-α-enolase antibody have been identified in the serum of AIR patients.However, anti-retinal antibodies can also be negative in some AIR patients' serum.At present, the diagnostic criteria and laboratory examination criteria for AIR are not uniform, and there are large differences in clinical examination performance among patients, which may lead to misdiagnosis and missed diagnosis.Therefore, a thorough examination is required to rule out other possible causes before making a speculative diagnosis.So far, the treatments for different types of AIR are not unified.Most clinicians choose a combination of various immunomodulatory therapies, including systemic or topical application of corticosteroids, intravenous immunoglobulin, plasmapheresis, and the use of antimetabolites or anti-CD20 monoclonal antibody.The clinical characteristics of different AIR types, serum anti-retinal autoantibodies detection, differential diagnosis and treatment prognosis of AIR were reviewed in this article to improve the understanding of clinicians and researchers toward the disease, and to achieve early diagnosis and early treatment of AIR.

Doege-Potter syndrome associated to metastatic solitary fibrous tumor

ABSTRACT Solitary fibrous tumor (SFT) is a rare fibroblastic mesenchymal neoplasm with an estimated annual incidence of 0.35 per 100,000 individuals. Doege-Potter syndrome is a paraneoplastic syndrome related to solitary fibrous tumor clinically characterized by hypoglycemia, occurring in less than 5% of cases. Herein, we report a case of metastatic SFT associated with recurrent severe hypoglycemia. A 43-year-old male with a noncontributory medical history presented with a painless and progressive growing mass in the right thigh. The histological evaluation rendered the diagnosis of SFT, and tumor resection was performed. One year after the operation, on the oncological follow-up, he was admitted to the emergency unit, manifesting an early-morning seizure associated with a severe hypoglycemia. The laboratory findings of non-islet cell tumor hypoglycemia (NICTH) in the background of a relapsed metastatic solitary fibrous tumor were consistent with the diagnosis of Doege-Potter syndrome. Hepatic embolization associated with oral glucocorticoid was an efficient palliative treatment to control the hypoglycemic crisis and allow hospital discharge.

Clinical analysis of 11 cases of lymphoma complicated with paraneoplastic neurological syndrome / 中华血液学杂志

Objective: To evaluate the clinical characteristics, treatment, and prognosis of patients with paraneoplastic neurological syndrome (PNS) associated with lymphoma. Methods: Between January 2012 and May 2021, the clinical data of 11 patients with lymphoma complicated with PNS treated at Peking Union Medical College Hospital were retrospectively reviewed. Results: Among the 11 patients (8 male and 3 female) , the median onset age was 61 (range, 33-78) years. The symptoms of PNS preceded lymphoma in 10 patients. The median time from the onset of PNS to the diagnosis of lymphoma was 4 months. Of the 11 patients, one had Hodgkin's lymphoma, 8 had B-cell non-Hodgkin's lymphoma, and 2 had peripheral T-cell lymphoma. Seven patients were evaluated for onconeural antibody, of whom 2 were positive (1 for anti-Ma2 antibody and 1 for anti-Yo antibody) . Of the 11 patients, the PNS symptoms of 3 patients were located in the central nervous system, 4 were located in the peripheral nervous system, and 3 were located in the muscle. Eight of the 11 patients were treated with glucocorticoid-based immunosuppressive therapy before the diagnosis of lymphoma. Patients with central nervous system involvement and dermatomyositis responded well to glucocorticoid, whereas patients with peripheral neuropathy did not significantly benefit. All 11 patients were treated with chemotherapy after the diagnosis of lymphoma. The efficacy of chemotherapy was assessed in 9 patients, 7 cases achieved complete remission, 1 case was evaluated as stable disease, and 1 case was evaluated as disease progression. The PNS symptoms of the patients who achieved complete response were almost completely recovered. The median follow-up time was 42 (range, 4-95) months. At the end of the follow-up period, 6 of the 11 patients survived, 3 were lost to follow-up, and 2 died. The median overall survival of the whole group was not reached. Conclusions: PNS can involve various parts of the nervous system and can be associated with different types of lymphoma. Through early diagnosis and treatment, the PNS symptoms could improve in most patients who achieve complete remission of lymphoma.

Anti-amphiphysin-associated paraneoplastic brainstem encephalitis with esophageal neuroendocrine carcinoma: a case report / 中华神经科杂志

Paraneoplastic neurological syndromes (PNS) are heterogeneous disorders caused by autoimmune responses of cancer, which can affect any part of the nervous system. Anti-amphiphysin antibody is one of the high-risk PNS antibodies, which is usually associated with small cell lung cancer and breast cancer. However, extrapulmonary neuroendocrine carcinoma is rare in patients with anti-amphiphysin antibody. A case of anti-amphiphysin-associated paraneoplastic brainstem encephalitis with esophageal neuroendocrine carcinoma is reported. The tumor was detected by fluorine 18 fluorodeoxyglucose positron emission tomography and pathologically confirmed by gastroscopic biopsy. The patient′s neurological symptoms were partially improved after treatment of intravenous immunoglobulin and glucocorticoids. However, the disease prognosis is closely related to the accompanying tumor.

Reporte de un caso fatal de encefalitis autoinmunitaria asociada a teratoma ovárico / Report of a fatal case of autoimmune encephalitis associated with an ovarian teratoma

INTRODUCCIÓN: El teratoma del ovario es el tumor de células germinales más frecuente. Entre sus complicaciones se describen algunos síndromes paraneoplásicos, como la encefalitis por anticuerpos contra el receptor N-metil-D-aspartato (NMDA). CASO CLÍNICO: Mujer de 22 años sin antecedentes de importancia que consulta por cuadro clínico de 4 días de evolución caracterizado por síntomas psiquiátricos y un episodio convulsivo. Se considera un cuadro de meningoencefalitis y se indica manejo antibiótico de amplio espectro y antiviral. Ante el deterioro se sospecha una encefalitis autoinmunitaria, se identifica un tumor anexial en los estudios imagenológicos compatible con teratoma y se confirma el diagnóstico con el hallazgo de anticuerpos NMDA en el líquido cefalorraquídeo. A pesar de su resección y manejo sistémico, fallece a los 5 meses. DISCUSIÓN: La encefalitis autoinmunitaria asociada a un teratoma es inusual, pero es una complicación que debe sospecharse como diagnóstico de exclusión. La mayoría tienen un pronóstico favorable, aunque hasta una cuarta parte de los casos puede asociarse a daño irreversible en la corteza del hipocampo e incluso la muerte, principalmente cuando el diagnóstico y el tratamiento son tardíos. CONCLUSIONES: Este caso es un reto clínico que representa un vacío en la evidencia actual, puesto que no existe un estándar de manejo de los teratomas. Se propone que, una vez diagnosticado un teratoma, se realice una cistectomía ovárica. Son necesarios más estudios para validar esta recomendación.

INTRODUCTION: The ovarian teratoma is the most common cell germ tumor. Some paraneoplastic syndromes have been described, including the anti-N-methyl-D-aspartate (NMDA) receptor encephalitis as part of its complications. CASE REPORT: A 22 years old female patient with no important medical history, consults due to an acute psychotic disorder and a convulsion. A meningoencephalitis was considered and broad-spectrum antibiotics and antivirals were started. Faced with deterioration, an autoimmune encephalitis is considered as well. Imaging studies revealed an ovarian teratoma and diagnosis was confirmed with antibodies against NMDA receptor in cerebrospinal fluid. Despite its resection and systemic management, the patient dies after 5 months. DISCUSSION: The autoimmune encephalitis associated with an ovarian teratoma is rare, its a complication that must be suspected as an exclusion diagnosis and most have a favorable prognosis, however up to a quarter of cases can be associated with irreversible damage to the hippocampal cortex and even death, mainly when late diagnosis and treatment are made. CONCLUSIONS: This case is a clinical challenge, no evidence is available since there is no standard for teratoma management. It is proposed that once a teratoma is diagnosed, an ovarian cystectomy is performed. Further studies are necessary to validate this recommendation.

La dermatomiositis paraneoplásica como una presentación inusual de cáncer de mama / Paraneoplastic dermatomyositis as an unusual presentation of breast cancer

Introducción: La dermatomiositis es una inflamación muscular autoinmune con presencia de rash, se manifiesta con debilidad muscular proximal, asociado a complicaciones cardiacas como miocarditis y/o trastornos de la conducción. En algunas ocasiones puede ser la única manifestación clínica de una neoplasia maligna oculta, por lo cual su detección temprana puede tener grandes repercusiones en el pronóstico del tumor oculto. Objetivo: Describir el caso de una paciente con un síndrome paraneoplásico dado por una dermatopolimiositis como presentación inusual de un cáncer de mama. Caso clínico: Se trata de una paciente en quinta década de la vida sin antecedentes personales de importancia, que debuta con una debilidad en miembros superiores de predominio proximal incapacitante, fiebre y elevación importante de la creatinquinasa (CPK), bajo un diagnóstico de una dermatopolimiositis como manifestación principal de un cáncer de mama infiltrante. Conclusiones: La dermatomiositis en mujeres de mediana edad debe hacer sospechar en una patología neoplásica oculta. Lo más importante es descastar el cáncer de mama(AU)

Introduction: Dermatomyositis is an autoimmune muscle inflammation exhibited rash, and proximal muscle weakness, associated with cardiac complications such as myocarditis and / or conduction disorders. In some cases, it can be the only clinical manifestation of hidden malignancy, so its early detection can have great repercussions on the prognosis of the hidden tumor. Objective: To describe the case of a patient with a paraneoplastic syndrome caused by dermatopolymyositis as an unusual presentation of breast cancer. Clinical case report: This is a patient in her fifties with no significant clinical personal history, who had disabling proximal weakness, predominantly in her upper limbs, fever and significant elevation of creatine kinase (CPK), under a diagnosis of dermatopolymyositis as the main manifestation of an infiltrating breast cancer. Conclusions: Dermatomyositis in middle-aged women should make us suspect an occult neoplastic pathology. The most important is to rule out breast cancer(AU)

Dermatomiositis paraneoplásica como presentación de linfoma. Reporte de caso y revisión de la literatura / Paraneoplastic dermatomyositis as presentation of lymphoma. Case report and literature review

RESUMEN Los síndromes paraneoplásicos neurológicos se presentan en menos del 1% de los tumores sólidos y son infrecuentes en linfomas. Se asocian a tumores con alta actividad biológica y condicionan deterioro funcional y discapacidad. La dermatomiositis se asocia a cáncer, por tanto obliga al estudio de neoplasias ocultas; su diagnóstico como síndrome paraneoplásico se establece con criterios específicos. El pronóstico funcional depende del diagnóstico oportuno, control del cáncer y de la regulación de la respuesta inmunológica. Se presenta el caso de una mujer de 65 años con dermatomiositis en el curso de un linfoma B marginal variante convencional de primario cutáneo.

ABSTRACT Neurological paraneoplastic syndromes occur in less than 1% of solid tumours and are uncommon in lymphomas. They are related to tumours with high biological activity and cause functional impairment and disability. Dermatomyositis is associated with cancer, and requires the study of hidden neoplasms. Its diagnosis as a paraneoplastic syndrome is established with specific criteria. Functional prognosis depends on early diagnosis, cancer control, and regulation of the immune response. The case is presented of a 65 year-old woman with dermatomyositis during the course of a conventional variant of a primary cutaneous B marginal lymphoma.

Síndrome RS3PE (sinovitis simétrica seronegativa remitente con edema) como manifestación paraneoplásica de mesotelioma: reporte de un caso y revisión de la literatura / Remitting seronegative symmetrical synovitis with pitting oedema as a paraneoplastic manifestation of mesothelioma: A case report and review of the literature

RESUMEN El síndrome RS3PE (sinovitis simétrica seronegativa remitente con edema) fue descrito por McCarty (1985) como una forma benigna de artritis reumatoide de inicio en hombres mayores de 70 arios, con compromiso simétrico y asociada a edema de manos y pies. El enfoque de la poliartritis aguda en el adulto mayor debe incluir el síndrome RS3PE, en el que la pobre respuesta a esteroides y el compromiso multisistémico orientan hacia una naturaleza paraneoplásica, principalmente tumores sólidos (adenocarcinoma gástrico y pancreático), linfomas y leucemias. Se presenta el caso de un paciente con RS3PE como manifestación paraneoplásica de mesotelioma, una manifestación rara en este tipo de tumor.

A B S T R A C T Remitting seronegative symmetrical synovitis with pitting oedema (RS3PO) was described by McCarty (1985), as a benign form of rheumatoid arthritis that onset in men older than 70 years (80% of cases), with symmetrical and associated involvement of oedema of hands and feet. The approach of acute polyarthritis in the elderly should include the RS3PO syndrome, where poor steroid response and multisystem involvement oriented towards paraneoplastic nature, mainly with solid tumours (gastric and pancreatic adenocarcinoma), lymphomas and leukaemia. The case is presented of a patient with RS3PO as a paraneoplastic manifestation of mesothelioma, which is rare in this type of tumour.

Policondritis recidivante como fenómeno paraneoplásico en paciente con síndrome mielodisplásico / Relapsing Polychondritis as paraneoplastic phenomenon in patient with Myelodysplastic Syndrome

Los síndromes mielodisplásicos son un grupo heterogéneo de enfermedades hematológicas, caracterizadas por hematopoyesis ineficaz con riesgo de progresión a leucemia mieloide aguda. Pueden asociarse a manifestaciones autoinmunes en un 10-30% de los pacientes, apareciendo antes, durante o luego del diagnóstico del trastorno hematológico. La prevalencia de policondritis recidivante como fenómeno paraneoplásico es de 0,7-5,4%, presentándose de forma simultánea en la mayoría de los casos. Otros procesos autoinmunes asociados incluyen: vasculitis sistémica, poliartritis seronegativa, dermatosis neutrofílica, citopenias inmunomediadas, presencia de autoanticuerpos y crioglobulinemia. Reportamos el caso de una mujer de 60 años, sin antecedentes patológicos previos, que presentó un cuadro de policondritis recidivante y vasculitis sistémica asociadas a síndrome mielodisplásico.

Myelodysplastic syndromes are a heterogeneous group of hematological diseases, characterized by ineffective hematopoiesis with risk of progression to acute myeloid leukemia. They can be associated to autoimmune manifestations in 10-30% of patients, appearing before, during or after the diagnosis of the hematological disorder. The prevalence of relapsing polychondritis as a paraneoplastic phenomenon is 0.7-5.4%, occurring simultaneously in the majority of cases. Other associated autoimmune processes include: systemic vasculitis, seronegative polyarthritis, neutrophilic dermatosis, immunomediated cytopenias, presence of autoantibodies and cryoglobulinemia. We report the case of a 60-year-old woman, with no previous medical history, who presented with recurrent polychondritis and systemic vasculitis associated with myelodysplasia.

Erythroderma as first manifestation of squamous cell lung cancer: rare case report

Abstract Erythroderma as the first manifestation of a solid organ malignancy is rare. The underlying cancer is a challenging condition to diagnose. There are a few cases of erythroderma in cancer patients reported in the literature. We here describe the case of a 70-year-old man who presented with asthenia, weight loss, dry cough and total body erythema with desquamation over the past month. A chest computed tomography scan showed a nodular lesion, which was finally diagnosed as a squamous cell lung carcinoma. To our knowledge, as an erythroderma presentation, only 13 cases have been reported in the literature. This case report demonstrates the need to search for a neoplasm in patients presenting with erythroderma, particularly in the presence of accompanying debilitating symptoms.

Dermatomiositis asociada con carcinoma hepatocelular relacionado con el virus de la hepatitis B: un reporte de caso en Perú / Dermatomyositis associated with hepatitis B virus-related hepatocellular carcinoma: a case report in Peru

La dermatomiositis (DM) es una miopatía inflamatoria de causa desconocida caracterizada por inflamación muscular, debilidad músculo-esquelética proximal y manifestaciones cutáneas típicas. Se ha asociado a malignidades como un síndrome paraneoplásico. Reportamos el caso de un paciente varón de 33 años, diagnosticado de hepatitis B, VHB crónico inactivo, que presentó lesiones papulares, pruriginosas y descamativas en cara, manos, zona inguinal y pies. Al examen físico se evidenció pápulas de Gottron, signo del heliotropo, debilidad muscular simétrica proximal. Se realizó una biopsia de piel donde se encontraron hallazgos compatibles con DM. Tras una ecografía abdominal se encontró una tumoración hepática, cuyo resultado en biopsia fue de carcinoma hepatocelular moderadamente diferenciado. Posteriormente se le realiza segmentectomía con lo cual síntomas de DM disminuyen. Es un caso infrecuente, y de sumo interés por lo que se decide reportar.

Dermatomyositis is an idiopathic inflammatory myopathie characterized by proximal skeletal muscle weakness, typical skin manifestations and muscle inflammation. This disease has been associated with malignancies as a paraneoplastic syndrome. We present a patient of thirty-three years diagnosed with hepatitis B, chronic inactive HBV who presents papular, pruritic and desquamative lesions on the face, hands, inguinal area and feet. At the physical examination is evidentiated Gottron's papules, heliotrope sign and proximal symmetric muscular weakness. Findings compatible with DM were found in a skin biopsy. An abdominal ultrasound revealed a liver tumor whereby a biopsy was performed and the result was a moderately differentiated hepatocellular carcinoma. Subsequently, a segmentectomy has been made and consequently the DM symptoms decreased. This case is of great interest and rare reason why we decided to reported it.