Clinical report and genetic analysis of a child with Aicardi-Goutières syndrome type 3 due to compound heterozygous variants of RNASEH2C gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with Aicardi-Goutières syndrome 3 (AGS3).@*METHODS@#Trio whole exome sequencing was carried out for the child and his parents, and candidate variants were verified by Sanger sequencing. To further clarify their pathogenicity, the crystal structure of the variants was simulated and analyzed, and the plasmid of variants was expressed in vitro. A literature search was also carried out to summarize the phenotypic and genetic characteristics of AGS3.@*RESULTS@#The child was found to harbor novel compound heterozygous variants of the RNASEH2C gene, namely c.434G>T (p.Arg145Leu) and c.494G>C (p.Ter165Ser), which were inherited from his mother and father, respectively. Analysis of protein crystal structure suggested that the c.434G>T (p.Arg145Leu) variant may affect the stability of local structure, and in vitro experiments showed that this variant can lead to protein degradation. The c.494G>C (p.Ter165Ser) variant has destroyed the stop codon, resulting in prolonged variant.@*CONCLUSION@#The novel compound heterozygous variants of the RNASEH2C gene probably underlay the AGS3 in this child, which has enriched the phenotypic and mutational spectrum of this disorder.

Síndrome de Guillain-Barré como manifestación neurológica autoinmune asociado a COVID-19: Una revisión de la literatura / no

La enfermedad por coronavirus (COVID-19) producida por el SARS-CoV-2 ha sido un reto para los servicios de salud en todo el mundo. La pandemia se ha extendido ampliamente con más de 80 millones de casos confirmados y más de un millón de muertes a nivel mundial, por lo que ha estado bajo constante investigación para entender todos los aspectos de la enfermedad. Recientemente se han reportado varios casos de pacientes con síndrome de Guillain-Barré asociado a COVID-19 como manifestación principal, convirtiéndola en la primera enfermedad neurológica autoinmune desencadenada por SARS-CoV-2; sin embargo, es necesario obtener más información para entender completamente los mecanismos inmunopatogénicos implicados en esta asociación.

The coronavirus disease (COVID-19) caused by SARS-CoV-2 has been a challenge for health services around the world. The pandemic has spread widely, with more than 80 million confirmed cases and more than one million deaths globally. There have been many studies to understand all aspects of the disease. Recently, several cases have been reported of patients with Guillain-Barré syndrome associated with COVID-19 as the main manifestation. As it may be one of the first autoimmune neurological diseases triggered by SARS-CoV-2, it is necessary to obtain more information to fully understand the immunopathogenic mechanisms involved in this association.

Guillain Barré syndrome in the paediatric population. Consequence of active infection or long Covid?

Background: Guillain-Barre syndrome is a polyradiculoneuropathy that has been associated with infectious diseases as triggers. There is currently little medical evidence exploring the relationship between the development of Guillain-Barre syndrome caused by SARS-CoV-2 infection and long Covid. Objective: To synthesize the medical evidence that describes the relationship between post Covid syndrome and Guillain-Barre syndrome in the paediatric population. Methodology: A scoping review was developed using Scopus and PubMed databases, including analytical and/or descriptive experimental and observational studies. Results: The main clinical manifestations presented by paediatric patients were distal and ascending weakness in the lower limbs and myalgia. The diagnostic approach was based on clinical findings, imaging findings on spinal magnetic resonance and electromyography. The therapeutic strategy is based on the use of intravenous human immunoglobulins. Conclusion: Guillain-Barre syndrome is a frequent disease in the paediatric population with active SARS-CoV-2 infection or in survivors, however, it is necessary to encourage further clinical studies that increase the medical literature that describes this association.

Introducción: El síndrome de Guillain-Barré es una polirradiculoneuropatía que se ha asociado con enfermedades infecciosas como desencadenantes. En la actualidad es escasa la evidencia médica que explore la relación entre el desarrollo del síndrome de Guillain-Barré causado por la infección por SARS-CoV-2 y la COVID prolongada. Objetivo: Sintetizar la evidencia médica que describe la relación entre el síndrome pos-COVID y el síndrome de Guillain-Barré en la población pediátrica. Metodología: Se realizó una revisión exploratoria utilizando las bases de datos de Scopus y PubMed, incluyendo estudios experimentales y observacionales analíticos o descriptivos. Resultados: Las principales manifestaciones clínicas presentadas por los pacientes fueron debilidad distal y ascendente en miembros inferiores y mialgias. El enfoque diagnóstico se apoyó en los hallazgos clínicos, hallazgos imagenológicos por resonancia magnética de columna y electromiografía. La estrategia terapéutica se basó en el uso de inmunoglobulinas humanas intravenosas. Conclusión: El síndrome de Guillain-Barré es una enfermedad frecuente en la población pediátrica con infección activa por SARS-CoV-2 o en sobrevivientes, sin embargo, es necesario incentivar el desarrollo de estudios clínicos que incrementen la literatura médica que describe esta asociación.

Concurrencia entre el síndrome de Guillain-Barré y púrpura trombocitopénica inmune posiblemente inducidos por COVID-19 prolongado / Concurrence between Guillain-Barré syndrome and immune thrombocytopenic purpura possibly induced by long COVID-19

RESUMEN Durante la infección aguda por el SARVS-CoV-2 se produce una desregulación del sistema inmune que puede durar hasta ocho meses después de controlado el cuadro agudo. Esto, sumado a otros factores, posiblemente este asociado con un aumento del riesgo de aparición y concurrencia de enfermedades autoinmunes. La aparición simultanea del síndrome de Guillain-Barré (SGB) y púrpura trombocitopénica (PTI) se ha reportado poco en la literatura, y el SGB raramente se asocia con otra enfermedad autoinmune. Presentamos el caso de un varón que luego de un mes de tener un cuadro agudo de COVID-19 moderado, presentó concurrentemente SGB y PTI con respuesta adecuada al tratamiento.

ABSTRACT During acute SARS-CoV-2 infection, there is persistent deregulation of the immune system that can last up to 8 months after the acute condition is controlled. This, added to other factors, is possibly associated with an increased risk of the appearance and concurrence of autoimmune diseases. The simultaneous occurrence of GBS and ITP has been rarely reported in the literature, and GBS is rarely associated with another autoimmune disease. We present the case of a man who, one month after his recovery from acute moderate COVID-19, presented concurrent GBS and ITP with an adequate response to treatment.

Research progress on the correlation between autoimmune diseases of the nervous system and intestinal flora / 中华预防医学杂志

With people's understanding and development of autoimmune-related diseases of the nervous system, the level of diagnosis and treatment has improved significantly. However, the etiology of some autoimmune diseases of the nervous system is still unknown. There is a close relationship between gut microbiota and nervous system immunity. The research and discussion on the flora will help clarify the pathogenesis and prevent the progress of diseases in the field of preventive medicine. This article summarizes the latest research progress in order to provide new ideas.

Encefalitis autoinmune en pediatría. Receptor antirreceptor N-metil D-aspartato (Anti-R-NMDA) / Autoimmune encephalitis in pediatrics. N-methyl D-aspartate Receptor Receiver (Anti-R-NMDA)

La encefalitis es un desorden inflamatorio del encéfa- lo que deriva en un estado mental alterado, crisis con- vulsivas, déficits neurológicos focales, acompañado usualmente de signos de inflamación en el líquido ce- falorraquídeo y hallazgos en la resonancia magnética que pueden ir desde normalidad hasta anormalidades extensas. El anticuerpo anti RNMDA es el que origi- na la mayoría de los casos de encefalitis autoinmune en niños y adultos jóvenes, seguido por el anticuerpo anti LGI1 de presentación en el adulto. Se caracteri- zan por estar frecuentemente asociadas a algún tumor, responder a la inmunoterapia y provocar daños cere- brales variables que se manifiestan como cuadros clí- nicos polimorfos (desde la disfunción límbica hasta una encefalopatía multifocal o difusa). La prevalencia exacta de las encefalitis autoinmunes es incierta, exis- tiendo un aumento importante del reporte de casos en los últimos 10 años, asociado al avance en la pesqui- sa de los anticuerpos contra un antígeno celular espe- cífico. Todas las encefalitis autoinmunes responden a terapia inmunomoduladora, generalmente la evolución a la mejoría es lenta y puede completarse en meses o incluso en un año o más. Revisaremos generalidades de la encefalitis autoinmune, su forma más común y discutiremos su enfoque diagnóstico y tratamiento...(AU)

Significando a vivência das pessoas com doença autoimune do sitema nervoso, na perspectiva das demandas de cuidado: contribuições para a enfermagem e para a saúde integral / Meaning the experience of people with autoimmune disease of the nervous system, from the perspective of care demands: contributions to nursing and to integral health

A presente dissertação de mestrado inserida no Núcleo de Fundamentos do Cuidado de Enfermagem (NUCLEARTE) da EEAN tem como objeto o significado da vivência da pessoa com afecção autoimune do sistema nervoso na relação com as demandas de cuidado. Para tanto, foram traçados os seguintes objetivos: objetivo geral: Compreender a vivência da pessoa com afecção autoimune do sistema nervoso na perspectiva das demandas de cuidado; e objetivos específicos: Conhecer a vivência da pessoa com afecção autoimune do sistema nervoso, Relacionar a vivência com as demandas de cuidado e Propor uma teoria substantiva que congregue as demandas de cuidado à saúde integral. O referencial teórico do estudo é o Interacionismo Simbólico, haja vista a importância do significado para o fenômeno em investigação. Foi utilizada a abordagem metodológica qualitativa, guiada pelos conceitos da Teoria Fundamentada nos Dados (TFD). O cenário de estudo compreendeu as unidades de atenção básica à saúde, incluindo as Estratégias de Saúde da Família do município de Macaé ­ RJ. O grupo amostral foi composto de doze mulheres com diagnóstico confirmado de doença autoimune do sistema nervoso, a saber esclerose múltipla e miastenia gravis, tendo sido utilizado o critério de saturação teórica. A coleta dos dados se deu mediante entrevista semi-estruturada em profundidade a fim de proporcionar uma imersão no universo da pessoa entrevistada, captando aspectos verbais e não-verbais, dentre outros. Os depoimentos coletados foram analisados de acordo com os procedimentos próprios da TFD: codificação aberta, codificação axial e codificação seletiva para posterior construção da categoria central, cerne do estudo. A partir da conjunção dos fenômenos relacionados ao objeto de estudo: condições causais, condições contextuais, condições interventoras, estratégias de ação-interação e consequências, foi possível identificar o fenômeno central: (RE) SIGNIFICANDO A VIDA A PARTIR DAS DEMANDAS DE CUIDADO: A VIVÊNCIA DA DOENÇA AUTOIMUNE DO SISTEMA NERVOSO REVELA UM NOVO SER.(AU)

Encefalite autoimune anti recetor N-metil D-aspartato: relato de dois casos / Auto-immune anti-N-methyl-D-aspartate receptor encephalitis: a two-case report

OBJETIVOS: Relatar dois casos com apresentações diferentes de encefalite antirreceptor N-metil-D-aspartato (NMDA), uma doença autoimune recentemente identificada e caracterizada por alterações da consciência, déficit de memória, convulsões, disfunção autonômica e distúrbios do movimento. DESCRIÇÃO DOS CASOS: Criança de seis anos, sexo feminino, que se apresentou com movimentos distônicos e coreoatetósicos incapacitando a marcha. Adolescente de 17 anos, sexo masculino, com alteração do comportamento, amnésia retrógrada e convulsões. Ambos realizaram eletroencefalograma e ressonância magnética cerebral que não revelaram alterações relevantes. Os anticorpos antirreceptor NMDA foram positivos no líquido cefalorraquidiano em ambos os casos e no sangue no primeiro paciente. Foram administrados metilprednisolona, imunoglobulina e rituximab em diferentes intervalos. Ambos tiveram uma recidiva cerca de seis meses depois, com recuperação ao final de um ano e meio após o diagnóstico. CONCLUSÕES: A encefalite antirreceptor NMDA deve ser considerada quando estamos perante o início súbito de sintomas neuropsiquiátricos. O diagnóstico e terapêutica precoces são fatores prognósticos fundamentais.

AIMS: To report two cases with different presentations of anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis, a newly identified autoimmune disease characterized by consciousness changes, memory deficit, seizures, autonomic dysfunction and movement disorders. CASES DESCRIPTION: A six-year-old female, who presented with dystonic and choreoathetoid movements with refusal to walk. A 17-yearold male, presented with behavioral changes, retrograde amnesia and seizures. Electroencephalogram and brain magnetic resonance imaging did not show any significant findings. Anti-NMDAR antibodies were positive in cerebrospinal fluid in both cases and in serum in the first patient. Methylprednisolone, immunoglobulin and rituximab were given at different intervals. Both had a recurrence about six months later, with recovery at the end of one and a half year of the diagnosis. CONCLUSIONS: Anti-NMDAR encephalitis should be considered in patients with sudden onset of neuropsychiatric symptoms. Early diagnosis and treatment are major prognostic factors.

Association between Wegener´s granulomatosis and severe lumbar pain

Introducción: La granulomatosis de Wegener (GW) es una enfermedad autoinmune sistémica caracterizada por vasculitis granulomatosa necrotizante que afecta principalmente a las vías respiratorias superiores, pulmones y riñones. Sin embargo, con menos frecuencia puede afectar a los músculos, las articulaciones, la piel, los ojos, el sistema cardiovascular y el sistema nervioso. La presencia de dolor lumbar consiste en una manifestación clínica inusual debido a la afectación del sistema nervioso. Objetivo: El objetivo de este estudio es alertar a los profesionales de la salud acerca de la posibilidad de cortar el dolor lumbar estar relacionado con la granulomatosis de Wegener, su impacto en la vida diaria del paciente, así como los signos clínicos y las formas de diagnóstico. Materiales y Métodos: Revisión de la literatura utilizando PubMed, MEDLINE, Google Scholar, SciELO, EBSCO. Los trabajos seleccionados entre 1995 y 2013 por un total de 48 obras de las cuales se seleccionaron 21 de acuerdo con sus informes de afectación neurológica, diagnóstico y tratamiento. Discusión: Los síntomas neurológicos pueden ocurrir en 22-50 por ciento de los pacientes durante el curso de la GW. sistema nervioso (SNC) central es poco frecuente (sólo 2-8 por ciento de los pacientes) dolor lumbar .Severe es una manifestación clínica poco frecuente y puede estar asociada con la participación de sistema nervioso central y periférico. CNS debido a la compresión de la médula espinal a nivel lumbar. sistema nervioso periférico debido a la compresión de las raíces nerviosas. Conclusión: La granulomatosis de Wegener es ser una enfermedad sistémica puede presentar diferentes manifestaciones clínicas De acuerdo con el sitio involucrado. Es asociaciones con el dolor lumbar es rara y la refleja la afectación neurológica. Por lo tanto, en pacientes con dolor lumbar grave sin diagnóstico confirmado, granulomatosis de Wegener no debería ser considerado.

Introduction: Wegener’s granulomatosis (WG) is a systemic autoimmune disease characterized by necrotizing granulomatousvasculitis which primarily affects upper respiratory tract, lungs and kidneys. However, less frequently can affect muscles,joints, skin, eyes, cardiovascular system and nervous system. The presence of lumbar pain consists in an unusual clinicalmanifestation due to the involvement of the nervous system. Objective: The objective of this study is to alert health professionalsabout the possibility that severe lumbar pain be related to Wegener’s granulomatosis, it’s impact on the patient’s dailylife as well as clinical signs and diagnosis forms. Materials and Methods: Literature review using PubMed, MEDLINE, GoogleScholar, SciELO, EBSCO. Selected works from 1995 to 2013 totaling 48 works of which 21 were selected according to theirreports of neurological involvement, diagnosis and treatment. Discussion: Neurological symptoms may occur in 22-50 percent of patients during the course of WG. Central nervous system (CNS) involvement is uncommon (only 2-8 percent of patients).Severelumbar pain is a rare clinic manifestation and it can be associated with the involvement of central and peripheral nervous system.CNS due to compression of the spinal cord at the lumbar level. Peripheral nervous system due to compression of nerveroots. Conclusion: Wegener’s granulomatosis for being a systemic disease can present different clinical manifestations accordingto the involved site. It’s associations with lumbar pain is rare and reflects it’s neurological involvement. Therefore, inpatients with severe lumbar pain without confirmed diagnosis, Wegener’s granulomatosis should be considered.

Paquimeningitis asociada a enfermedad por IgG4 / Pachymeningitis associated with IgG4 disease

La paquimeningitis hipertrófica es una enfermedad infrecuente. Puede ser idiopática, secundaria a infección o enfermedad oncológica. Recientemente se la describió asociada a la enfermedad por IgG4, pudiendo ser esta la causa de muchas clasificadas como idiopáticas. Se presenta el caso de un hombre de 60 años de edad con historia de cefalea y epiescleritis, con respuesta parcial a corticoides. La resonancia magnética con contraste evidenciaba refuerzo meníngeo a nivel temporal y occipital izquierdo con extensión a la tienda del cerebelo. La biopsia meníngea demostró fibrosis e infiltrado linfoplasmocitario con más de 10 células plasmáticas IgG4 positivas por campo de gran aumento. El tratamiento con rituximab provocó mejoría clínica y radiológica. La paquimeningitis hipertrófica es una manifestación de la enfermedad por IgG4 y debe ser sospechada con la resonancia magnética y niveles plasmáticos altos de IgG4.

Hypertrophic pachymeningitis is an infrequent disorder. It can be idiopathic or secondary to infectious, autoimmune or neoplastic disease. The recently described ‹IgG4-related disease› could be the origin of many cases considered cryptogenic. We present the case of a 60-year-old man, with a history of headache and episcleritis in both eyes, with partial response to corticoid therapy. The brain MR study with gadolinium showed enhancement and thickening of the dura mater, extending from lateral wall of left temporal and occipital lobes to ipsilateral tentorium. Meningeal biopsy showed fibrosis and lymphoplasmacytic infiltrate, with more than 10 IgG4+ plasma cells per high power field. After treatment with rituximab there was clinical improvement accompanied by the virtual disappearance of the alterations detected in neuroimaging. Hypertrophic pachymeningitis as a manifestation of IgG4-related disease can be based on MRI findings if plasma IgG4 are elevated.

Miastenia gravis seronegativa: revisión de la literatura / Seronegative Myasthenia Gravis: A Literature Review

RESUMEN En 1976 se identificaron varios anticuerpos dirigidos contra el receptor de acetil colina en el suero de los pacientes con miastenia gravis (MG). Sin embargo, luego de unos años, se evidenció que aproximadamente el 20 % de los pacientes con MG generalizada y con evidencia electrofisiológica de un trastorno de la unión neuromuscular, no expresan dichos anticuerpos por radioinmunoensayo (RIA); éstos constituyen los casos de miastenia gravis seronegativa (MGSN). El diagnóstico en estos pacientes es difícil, dada la ausencia de autoanticuerpos detectables en suero y la falta de estudios neurofisiológicos sensibles. Recientemente un nuevo método basado en ensayos celulares muestra un aumento significativo en la detección de miastenia seropositiva, en casos diagnosticados previamente como seronegativos. Este artículo pretende dar un abordaje sobre la fisiopatología de la miastenia gravis seronegativa, así como una actualización de los últimos avances sobre su diagnóstico. También busca hacer una revisión sobre el contexto general actual de esta patología en Colombia.

SUMMARY In 1976 antibodies against acetyl-choline receptor were identified on the serum of patients with myasthenia gravis. However, some years later, it became clear that about 20% of patients with generalized MG and an electro physiologic disorder on the neuromuscular junction did not express these antibodies by radioimmunoassay (RIPA). These cases represent seronegative myasthenia gravis (SNMG). The diagnosis of these patients is difficult, given the absence of detectable autoantibodies on serum and the lack of sensitive neurophysiologic tests. Recently, a new method based on cellular assays shows an increase on detection of seropositive MG from cases, which were initially diagnosed as seronegative. This article reviews the physiopathology of seronegative MG and gives an update on the latest advances concerning its diagnosis. It also hopes to approach the current general context of the illness in Colombia.

Corticosteroid Treatment in Autoimmune Encephalitis

An increasing number of neuronal autoantibodies which target cell surface or synaptic proteins have been discovered over the last decade. Autoimmune encephalitis refers to this new category of autoimmune-mediated neurological disorders, which involve the central nervous system. Recent studies have established that autoimmune encephalitis is now the major cause of encephalitis, which was previously considered to be encephalitis of an unknown etiology. Moreover, the fact that autoimmune encephalitis is potentially treatable with immunomodulating therapy has changed the paradigm for the diagnosis and treatment of acute encephalitis syndrome. We herein review the pathophysiology, clinical manifestations, diagnosis, and treatment of autoimmune encephalitis with a focus on corticosteroid therapy as the first-line immunotherapy. In addition, regarding the diagnostic approach, we emphasize the differentiation between autoimmune and infectious encephalitis, because this distinction is not necessarily clear-cut in real clinical practice and should be considered when determining the initiation and type of immunotherapy.

Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review / 中华儿科杂志

<p><b>OBJECTIVE</b>Aicardi-Goutières syndrome (AGS) is a rare early-onset genetic encephalopathy. The aim of this study was to explore the clinical, imaging and genetic features of a family with AGS, which may contribute to definite diagnosis, genetic counseling and prenatal diagnosis of this rare disease in China. We summarized the characteristics of AGS through reviewing related references.</p><p><b>METHOD</b>Information of the proband and other family members as well as their DNA samples were collected. All the exons and exon-intron boundaries of pathogenic genes were amplified with PCR and were directly sequenced for genomic DNA. And we reviewed the reports of 252 cases.</p><p><b>RESULT</b>(1) The proband was a 6 years plus 7 months old boy. He presented with severe developmental delay and abnormal posture mainly as torsion of limbs. By physical examination he was found to have some chilblain-like skin lesions at the end of limbs and microcephaly. The CT scan of his head displayed multiple calcification, especially in the basal ganglia. The MRI of his head displayed a hypointense signal in T1-weighted (T1W) images and a hyperintense signal in T2-weighted (T2W) in cerebral white matter and cystic lesions in temporal white matter. The younger sister of the proband presented with chilblain-like skin lesions on her face and the end of limbs had no developmental delay. The CT of her head showed multiple calcification, especially in the basal ganglia. (2) Two mutations were identified in TREX1, one was a novel nonsense mutation (c.294_295insA), and the other was a known pathogenic mutation (c.868_885del). (3) The common performances of AGS included mental retardation [92% (231/252) ], dystonia [75% (189/252)], microcephaly [63% (159/252) ], chilblain [42% (106/252) ], basal ganglia calcification [100% (252/252)], brain atrophy[88% (222/252)] and cerebral white matter lesions [86% (217/252)]. TREX1 [38% (96/252) ] and RNASEH2B [23% (58/252)]are the most common pathogenic genes.</p><p><b>CONCLUSION</b>We determined pathogenic gene of these patients which is the basis of genetic counseling for this family. c.294_295insA mutation is a novel mutation not reported around the world yet.</p>

Anti-NMDAR encephalitis: a rare cause of status epilepticus and chorea in children / Encefalite anti-NMDA: uma causa rara de estado de mal epiléptico e coréia em crianças

Introduction: the anti- N-methyl-D-aspartate-receptor (NMDAR) encephalitis is a relatively rare auto-immune disease characterized by a severe encephalopathy with subacute onset of behavioral and neuropsychiatric symptoms. Methods: we discuss three cases of children with encephalitis in which we identified anti-NMDAR antibodies. Results: the three patients had similar onset symptoms: status epilepticus followed by behavioral changes and chorea. Conclusions: encephalitis anti- NMDAR should be included in the differential diagnosis of acute and subacute encephalitis in children presenting status epilepticus and extrapyramidal movement disorder...

Introdução: a encefalite com anticorpos anti-receptor N-metil-D-aspartato (NMDAR) é uma doença autoimune relativamente rara, caracterizada por uma encefalopatia grave com aparecimento de sintomas comportamentais e neuropsiquiátricos de forma subaguda. Métodos: discutir três casos de crianças com encefalite em que identificamos anticorpos anti-NMDAR. Resultados: os três pacientes tiveram o início dos sintomas semelhantes: estado de mal epiléptico seguido de alterações comportamentais e coréia. Conclusões: encefalite anti-NMDAR deve ser incluído no diagnóstico diferencial de encefalite aguda e subaguda em crianças com estado de mal epiléptico e distúrbio de movimento...

Sindrome Aicardi-Goutières: presentacion de un caso / Aicardi Goutières syndrome: a case presentation

El síndrome Aicardi-Goutières es una encefalopatía autosómica recesiva geneticamente caracterizada en su forma más severa por atrofia cerebral, leucodistrofia, calcificaciones intracraneales, linfositosis, alfa interferón incrementado y serología negativa, es fenotipicamente similar a las infecciones intrauterinas por virus. Clínicamente aparecen muchas disfunciones neurológicas y se manifestan progresivamente tales como microcefalia, espasticidad, posturas distónicas, retardo psicomotor profundo y hasta la muerte en la infancia temprana. En este trabajo nos propusimos demostrar que la aplicación del programa de neurorrehabilitación multifactorial Intensiva de la Clínica de Neurología Infantil del Centro Internacional de Restauración Neurológica puede mejorar la calidad de la Función Motora Gruesa y Logpédica de los pacientes portadores de enfermedades neurológicas progresivas. La muestra está compuesta por un paciente transicional de 2 años de edad al cual se le aplicó un Programa de Neurorrehabilitación Multifactorial Intensiva y se le realizaron evaluaciones antes y después del tratamiento las que mostraron que el paciente logró una postura simétrica, inició el rolido a prono por el lado izquierdo, desde decúbito prono eleva la cabeza del colchón, logró llevar la cabeza a la línea media por menos de tres segundos desde la posición de sentado, mantiene la postura de sentado con el tronco flexinado. Mejoró la praxis articulatorias incorporando alimentos de texturas más sólidas. Teniendo en cuenta los logros antes mencionados podemos decir que hubo una mejoría en la calidad de vida de este paciente después de aplicado el programa de neurorrehabilitación multifactorial Intensiva por lo que podemos inferir que aun quando las enfermedades neurológicas son progresivas el programa de neurorrehabilitación multifactorial Intensiva les aporta beneficios.

Aicardis-Goutières syndrome is a gentically heterogeneous autosomal recessive encephalopathy characterized in its most severe form by cerebrqal atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased alpha-interferon and negative serological results for common prenatal infections. It is phenotypically similar to an in utero viral infection. Severe neurologic dysfunction becomes apparent at infancy and manifests itself as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Our goal at CIREN, the International Center for Neurological Restoration, has been to implement a highly intensive, multifactorial rehabilitative program to improve the motor and oromotor skills of patients with progressive neurological disorders, therefore providing them with a better quality of life. The example given is that of a two year old child who was evaluated uopn arrival to our program, as well as after receiving the intensive rehabilitative therapy treatment. We found that the patient had improved significantly in his symmetrical posture. He was able to roll his body to the left from a prone position. His was able to lift his head midline for less than three seconds while sitting upright. He also improved in his feeding skills, able to tolerate more solid textures. These accomplishments are an indication to us that after receiving our intensive treatment program, there was a significant improvement to the quality of this child's life. In conclusion, we can infer that even if a progressive neurological disorder is presnet, a patient can benefit from our intensive, multifactorial rehabilitative program.

What should you know about limbic encephalitis? / O que deve saber sobre encefalites auto-imunes?

Autoimmune encephalitis is an inflammatory disorder characterized by a subacute impairment of short-term memory, psychiatric features and seizures. It is often associated with a variety of other neurological symptoms, and its differential diagnosis is wide, leading to challenges in its recognition. It used to be regarded as a rare disease, usually paraneoplastic and with poor prognosis. However, with the recent recognition of membrane-surface directed antibodies, it is now known that in a substantial proportion of cases there is no association with any malignancy and there is a good prognosis if treated. Hence, early recognition and prompt initiation of immunotherapies are of great importance.

A encefalite autoimune é uma doença inflamatória caracterizada por envolvimento subagudo da memória de curto prazo, presença de sintomas psicóticos e crises epilépticas. Dada a diversidade de sintomas na apresentação, o diagnóstico diferencial é um verdadeiro desafio. Anteriormente, era considerada uma doença rara, de etiologia paraneoplásica e com mau prognóstico. No entanto, com a recente descoberta dos anticorpos dirigidos à superfície da membrana, é atualmente reconhecido que uma grande parte dos casos não tem uma neoplasia subjacente e apresenta um ótimo prognóstico. Assim, o diagnóstico e tratamento imunoterápico precoces são de extrema importância.

A experiência de um estudante do curso técnico em enfermagem sobre a síndrome de Guillain Barré / The experience of a student of the nursing technical course on Guillain Barré syndrome

Este relatório tem por objetivo fazer uma breve descrição sobre a Síndrome de Guillain Barré e a minha experiência de contato e prestação de cuidados para um paciente portador desta síndrome durante um dos estágios realizados para a minha formação no curso técnico em Enfermagem da Escola GHC. Discorre sobre a doença e sua epidemiologia, enfocando os sinais, sintomas e peculiaridades da doença, dando ênfase aos cuidados de enfermagem ao paciente. Salienta-se a inclusão da família na atenção e reintegração à vida cotidiana. Segue revisão bibliográfica das recomendações de cuidados de enfermagem para atendimento de paciente com esta síndrome, em unidades de internação não intensiva(AU)

Neuropsychiatric Manifestations of Childhood Systemic Lupus Erythematosus

PURPOSE: Systemic lupus erythromatosus (SLE) is an autoimmune disease which involves multiple organs, including the central nervous system. Neuropsychiatric (NP) involvement is one of the major causes of morbidity and mortality in children with SLE. The aim of this study was to evaluate neuropsychiatric manifestations and to find the clinical factors associated with the development of NP manifestation in children with SLE (NPSLE). METHODS: We retrospectively reviewed the medical records of 51 patients diagnosed with SLE at Asan Medical Center Children's hospital between April 1998 and January 2011. Clinical factors between patients with NP manifestations and patients without NP manifestations were compared. RESULTS: NPSLE developed in 41.2% (21/51) of the patients with SLE. The mean age of onset was 13.0 (8-19) years. Twelve patients (57.1%) developed NP manifestations within 1 month after the diagnosis of SLE. NP manifestations included seizures (47.6%), headaches (42.9%), movement disorders (9.5%), peripheral neuropathy/AIDP (9.5%), stroke/TIA (9.5%), psychosis (4.8%). As comparing clinical factors, hematological profile and immunologic profile between patients with NP manifestations and patients without NP manifestations, there were no significant differences between the two groups. CONCLUSION: NP symptoms are common in children with SLE, especially within 1 month after the diagnosis of SLE. However, there were no clinical factors or laboratory profiles that may predict the development of NPSLE. Therefore, careful monitoring of NP manifestations may be important in children with newly-diagnosed SLE and prompt immunomodulatory treatment should be considered.

Indicaciones no tradicionales de amigdalectomía: [revisión] / Nontraditional indications for tonsillectomy: [review]

La amigdalectomía es la intervención quirúrgica más frecuente en otorrinolaringología y sus indicaciones son ampliamente conocidas en la especialidad. El avance en el conocimiento de sus funciones inmunológicas ha determinado su uso en el tratamiento de otras enfermedades tales como la nefropatía por IgA, síndromes neuropsiquiátricos, el síndrome de fiebre recurrente, algunas entidades dermatológicas, entre otras. Pretendemos así, revisar la literatura para evaluar la evidencia disponible que sustente lo que denominamos indicaciones no tradicionales. Al parecer, la evidencia a favor del uso de amigdalectomía en el tratamiento de algunas de estas enfermedades es sólido, mientras que para otras aún no supera la suposición teórica, pues sólo se cuenta con casos aislados. Consideramos necesario estudios más extensos, con mayor calidad metodológica para definir mejor la indicación de amigdalectomía. Esto, más la evaluación multidisciplinaria de cada caso nos debiera conducirá la mejor decisión.

Tonsillectomy is the most common surgical procedure in otorhinolaryngology and their indications are well known in the field. The advance in knowledge of their immune function has determined its use in the treatment of other diseases such as IgA nephropathy neuropsychiatric syndromes, periodic fever syndrome, some dermatologic entities, and others. We review the literature to evaluate the available evidence that supports what we cali nontraditional indications. Apparently the evidence for the use of tonsillectomy in the treatment of some diseases is solid, while others still not overcome the theoretical assumption, since there are only isolated cases. Larger studies are needed to consider, with higher methodological quality, to better define the indication for tonsillectomy. This and the multidisciplinary assessment of each case should lead us to the best decision.