Experiencia con la enfermedad de Creutzfeldt-Jakob de un único centro de referencia en México. Análisis de una serie de casos / Experience with Creutzfeldt-Jakob disease in a single referral center in Mexico. Case series

Resumen Introducción: La enfermedad de Creutzfeldt-Jakob (ECJ) es una enfermedad del sistema nervioso central rápidamente progresiva y mortal causada por priones. Objetivo: Presentar las principales características clínicas y paraclínicas de pacientes con probable ECJ en un centro de referencia de América Latina. Métodos: Estudio retrospectivo de pacientes diagnosticados con demencia rápidamente progresiva entre 2014 y 2019. Se incluyeron características clínicas, demográficas, del electroencefalograma, imágenes por resonancia magnética, proteína 14-3-3 y tomografía por emisión de positrones (PET), cuando estaba disponible. Resultados: Veinticuatro pacientes cumplieron con los criterios de ECJ esporádica (75 % mujeres), la edad media fue de 59.29 ± 11.67 años, la duración de la enfermedad desde el inicio de los síntomas hasta el ingreso hospitalario fue de 7.41 ± 6.54 meses y las primeras manifestaciones más comunes fueron las alteraciones del comportamiento (41.7 %). Los complejos de ondas delta prevalecieron en el electroencefalograma (54.2 %), la hiperintensidad cortical en la resonancia magnética (83.3 %) y el hipometabolismo frontal en la PET (37.5 %). En el análisis del líquido cefalorraquídeo, siete casos mostraron proteína tau total positiva; cinco, proteína 14-3-3 positiva; y tres, proteína tau hiperfosforilada positiva. Conclusiones: Existe importante heterogeneidad clínica en cuanto a los síntomas iniciales. Los hallazgos de las pruebas auxiliares coincidieron con los de otras series.

Abstract Introduction: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and fatal central nervous system disease caused by prions. Objective: To present the main clinical and paraclinical characteristics of patients with probable CJD in a referral center of Latin America. Methods: Retrospective study of patients diagnosed with rapidly progressive dementia between 2014 and 2019. Clinical, demographic, electroencephalogram, magnetic resonance imaging, and 14-3-3 protein characteristics were included, as well as positron-emission tomography (PET) data when available. Results: Twenty-four patients met the criteria for sporadic CJD (75% were women). Mean age was 59.29 ± 11.67 years, while mean disease duration from symptom onset to hospital admission was 7.41 ± 6.54 months. The most common first symptom was behavioral changes (41.7%). Delta wave complexes prevailed (54.2%) on electroencephalogram, cortical hyperintensity (83.3%) on magnetic resonance and frontal hypometabolism (37.5%) on PET. Seven cases showed positive total Tau; five, positive 14-3-3 protein; and three, positive phosphorylated tau on cerebrospinal fluid analysis. Conclusions: There is significant clinical heterogeneity regarding initial symptoms. Auxiliary test findings were consistent with those of other series.

Value of serum YKL-40 in the diagnosis of anti-MDA5-positive patients with dermatomyositis complicated with severe pulmonary injury / 北京大学学报(医学版)

OBJECTIVE@#To investigate the value of serum and bronchoalveolar lavage fluid (BALF) chitinase-3-like-1 protein (YKL-40) in the diagnosis of anti-melanoma differentiation-associated gene 5 (MDA5)-positive dermatomyositis (DM) patients complicated with serious pulmonary injury, including rapidly progressive interstitial lung disease (RP-ILD) and pulmonary infection.@*METHODS@#Anti-MDA5 antibodies positive patients with DM who were hospitalized in the Department of Rheumatology of China-Japan Friendship Hospital from 2013 to 2018 were involved in this study. Demographic information, clinical, laboratory and imaging data were retrospectively collected. ELISA was used to detect the serum and BALF levels of YKL-40. The receiver operating characteristic (ROC) curve was drawn, and the area under ROC curve (AUC) was used to evaluate the diagnostic value of serum YKL-40 for pulmonary injury.Interstitial lung disease (ILD) was confirmed by chest high-resolution CT (HRCT). RP-ILD was defined as progressive respiratory symptoms such as dyspnea and hypoxemia within 3 months, and/or deterioration of interstitial changes or appearace of new pulmonary interstitial lesions on chest HRCT. Pulmonary infection was considered as positive pathogens detected in qualified sputum, blood, bronchoalveolar lavage fluid or lung biopsy specimens.@*RESULTS@#A total of 168 anti-MDA5-positive DM patients including 108 females and 60 males were enrolled in the study. Of these patients, 154 had ILD, and 66(39.3%) of them presented RP-ILD. Seventy patients with pulmonary infection were confirmed by etiology. In the patients with RP-ILD, 39 (59.1%) of them were complicated with pulmonary infection. While only 31 cases(30.4%) had pulmonary infection in the non-RP-ILD patients. The incidence of pulmonary infection in the patients with RP-ILD was significantly higher than that of those with non-RP-ILD (P < 0.001). The serum YKL-40 levels in the RP-ILD patients with pulmonary infection were the highest compared with RP-ILD without pulmonary infection, non-RP-ILD with pulmonary infection and non-RP-ILD without pulmonary infection groups among all the patients [83 (42-142) vs. 42 (21-91) vs. 43 (24-79) vs. 38 (22-69), P < 0.01].The sensitivity, specificity and AUC of serum YKL-40 in the diagnosis of RP-ILD complicated with pulmonary infection were 75%, 67%, and 0.72, respectively. The AUC of diagnosed of anti-MDA5 positive DM patients complicated with RP-ILD and pulmonary infection was higher than that of patients complicated with only RP-ILD and only pulmonary infection (0.72 vs. 0.54 and 0.55, Z=2.10 and 2.11, P < 0.05).@*CONCLUSION@#The prognosis of anti-MDA5-positive DM patients with RP-ILD and pulmonary infection were poor. Serum YKL-40 level can be used as a helpful tool for the diagnosis of coexistence of these conditions in the patients.

Demencia rápidamente progresiva, sobre el reporte de un caso de Creutzfeldt-Jakob / Rapidly Progressive Dementia, on a Creutzfeldt-Jakob Case Report

Resumen La enfermedad de Creutzfeldt-Jakob (ECJ) es una entidad neurodegenerativa, neuroselectiva y fatal con casi nulo reporte en México. Se presenta el caso de un paciente del sexo masculino de 40 años que inició de padecimiento con alteraciones de la memoria a corto plazo, episodios depresivos y labilidad emocional con tendencia a la irritabilidad, posteriormente se agregó desorientación espacial y disminución de fuerza del hemicuerpo izquierdo, lateropulsión en la marcha ipsilateral e insomnio, por lo cual fue ingresado al hospital por 40 días para abordaje diagnóstico. Durante su estancia hospitalaria se le realizaron diversos estudios siendo los más relevantes para el diagnóstico: resonancia magnética, la cual presentó "cintas corticales" e hiperintensidades en los núcleos de la base, ambos hallazgos altamente sugerentes de la patología, así como proteína 14-3-3 positiva, lo cual reafirmó el diagnóstico. Tras 15 meses del inicio de los síntomas neurológicos presentó un cuadro de neumonía adquirida en la comunidad, por lo cual fue admitido al hospital donde se diagnosticó absceso pulmonar y demencia rápidamente progresiva, finalmente el paciente falleció en el nosocomio por una sepsis de origen pulmonar, 18 meses después del inicio de los síntomas, no se realizó necropsia, esto de acuerdo con los estándares actuales del manejo de la enfermedad.

Abstract The Creutzfeldt-Jakob disease is a neurodegenerative, neuroselective and fatal entity, that is not usually reported in Mexico. We present a 40-year-old male patient who presents the onset of this illness, with short-term memory disorder, depressive episodes and emotional lability with a tendency to irritability. He also presents space disorientation, decreased strength of the left and lateral hemibody drive in the ipsilateral walk, and insomnia, for which he is admitted to the hospital during 40 days for diagnostic approach. Several studies were carried out during his hospital stay, the most relevant for the diagnosis: a magnetic resonance which presented "cortical ribboning" and hyperintensities in the nuclei of the base, both diagnosis highly suggested the pathology. The positive results to protein 14-3-3 reaffirmed the diagnosis. After 15 months of the onset of neurological symptoms, the patient presented symptoms of pneumonia, which lead to the hospitalization. During his stay, he presented a pulmonary abscess and rapid progressive dementia. The patient died in the hospital by a pulmonary sepsis 18 months after the onset of symptoms. No necropsy was performed, following the current standards for the disease management.

Reporte de un caso de glomerulonefritis rápidamente progresiva por anticuerpos antimembrana basal glomerular / Case report of rapidly progressive glomerulonephritis due to anti-glomerular basement membrane antibodies

RESUMEN Una vez más en medicina interna no podemos, aún, prescindir de los métodos invasivos para alcanzar un diagnóstico. Los avances diarios en el hallazgo de nuevas herramientas paraclínicas no permiten reemplazar aquellos métodos de certeza como la anatomía patológica. El caso presentado es una muestra de ello. Se trata de una mujer de 27 años de edad, con antecedente de tiroiditis de Hashimoto que consulta por presentar severo deterioro de la función renal asociado a oligoanuria. Realizamos una revisión del tratamiento de las glomerulonefritis rápidamente progresivas por anticuerpos antimembrana basal glomerular, serológicamente negativas.

ABSTRACT Once again in internal medicine we cannot do a diagnosis without invasive methods. Daily advances in the finding of new paraclinical tools do not allow the replacement of certain methods such as pathological anatomy. The case presented is a sample of this. This is a 27-year-old woman with a history of Hashimoto's thyroiditis who consults for presenting severe impairment of kidney function associated with oligoanuria. We performed a review of the treatment of the rapidly progressive glomerulonephritis for serologically negative anti-GBM antibodies.

Demencia rápidamente progresiva por neurosífilis (parálisis general). Un caso tratable de demencia / Rapidly progressive dementia due to neurosyphilis (general paralysis). A treatable case of dementia

Resumen Las demencias rápidamente progresivas son cuadros de deterioro en más de un dominio cognitivo con compromiso funcional que progresan en menos de 1 a 2 años; y la neurosífilis es una de las etiologías. La sífilis es una infección bacteriana crónica que causa una serie de cuadros clínicos muy variables durante los primeros 2 a 3 años, seguido de una etapa latente prolongada que puede evolucionar a una etapa de infección terciaria. Luego de un período de años, o incluso décadas, un tercio de las personas con sífilis latente no tratada tendrá manifestaciones clínicas de sífilis terciaria como neurosífilis. Presentamos el caso de un varón de 41 años de edad que consultó por cuadro de postración, precedido por alteraciones cognitivas conductuales progresivas de 18 meses de evolución. Se constató cuadro demencial asociado a parkinsonismo farmacológico secundario a risperidona, por lo que se suspendió dicho tratamiento. Las neuroimágenes mostraron una atrofia cerebral grave; VDRL reactiva en suero y líquido cefalorraquídeo (LCR); además de un leve aumento de proteínas en LCR. Se realizó el diagnóstico de neurosífilis tardía iniciando tratamiento con penicilina G cristalina 1 400 000 UI cada 4 h por 14 días con excelente respuesta. Nuestro caso nos permite reflexionar sobre la importancia de solicitar estudios diagnósticos de sífilis en pacientes jóvenes que presentan cuadro de demencia rápidamente progresiva, ya que esta enfermedad tiene un tratamiento que puede revertir parcial o totalmente los síntomas.

Abstract Rapidly progressive dementias are conditions of impairment in more than one cognitive domain with functional compromise that progress in less than 1 to 2 years; and neurosyphilis is one of the etiologies. Syphilis is a chronic bacterial infection that causes a series of highly variable clinical conditions during the first 2 to 3 years, followed by a prolonged latent stage that can progress to a tertiary infection stage. After a period of years, or even decades, a third of people with untreated latent syphilis will have clinical manifestations of tertiary syphilis such as neurosyphilis. We present the case of a 41-year-old man who consulted for prostration symptoms, preceded by progressive behavioral cognitive alterations of 18 months of evolution. A dementia picture was found associated with pharmacological parkinsonism secondary to risperidone, so this treatment was suspended. Neuroimaging showed severe cerebral atrophy; serum and cerebrospinal fluid (CSF) reactive VDRL, in addition to a slight increase in CSF proteins. The diagnosis of late neurosyphilis was made and treated with crystalline penicillin G 1 400 000 IU every 4 h for 14 days with an excellent response. Our case allows us to reflect on the importance of requesting diagnostic studies of syphilis in young patients who present a rapidly evolving dementia, since this disease has a treatment that can partially or totally reverse the symptoms.

Glomerulonefritis rápidamente progresiva de etiología posinfecciosa. Caso pediátrico / Postinfectious rapidly progressive glomerulonephritis in a pediatric patient

La glomerulonefritis rápidamente progresiva de etiología posinfecciosa es rara en la infancia, con una prevalencia estimada del 1-3 %. La mayoría debuta como insuficiencia renal aguda y su tratamiento se basa en el uso de corticoides y ciclofosfamida. Si se realiza diagnóstico precoz, el 70 % presenta una recuperación temprana de la función renal. En los últimos años, se han descrito "glomerulopatías por C3", que presentan características que se superponen. Son útiles, en el diagnóstico diferencial, la inmunofluorescencia y la determinación del factor nefrítico. Se presenta un varón de 4 años que acude por fiebre y cuadro respiratorio. Se observa microhematuria, proteinuria, descenso de filtrado glomerular y descenso de C3, y se sospecha glomerulonefritis aguda. Se realiza una biopsia, cuya microscopía óptica muestra la presencia de semilunas epiteliales, y la electrónica, depósitos subepiteliales en forma de joroba, por lo que se diagnostica glomerulonefritis rápidamente progresiva de etiología posinfecciosa.

Postinfectious glomerulonephritis is rarely presented as rapidly progressive glomerulonephritis in children; the prevalence is approximately 1-3 %. Most children have acute onset of renal failure; initial treatment involves corticosteroids and immunosuppressive therapy. Early diagnosis improves prognosis. In recent years, an entity known as "C3 glomerulopathies" has been described, presenting characteristics that overlap. In the differential diagnosis, the immunofluorescence and the determination of the nephritic factor are useful. We report a 4-year-old boy with fever, respiratory symptoms and hyporexia. Microhematuria, proteinuria, decline in glomerular filtration and depressed C3 were found. Acute glomerulonephritis was suspected. Renal biopsy showed crescent formation, immunofluorescence staining for C3 and subepithelial humps. Therefore, postinfectious glomerulonephritis with crescent formations was diagnosed.

Acute renal failure by rapidly progressive glomerulonephritis with IgA deposition in a patient concomitantly diagnosed with multibacillary Hansen's disease: a case report / IRA por glomerulonefrite rapidamente progressiva com depósito de IgA em uma paciente com diagnóstico concomitante de hanseníase multibacilar: relato de caso

ABSTRACT Rapidly progressive glomerulonephritis (RPGN) is a renal disease with an extensive differential diagnosis. This paper reports the case of a 55-year-old female patient diagnosed with Hansen's disease with acute progressive renal impairment after developing lower limb pyoderma. The association between Hansen's and kidney disease has been well documented, with glomerulonephritis (GN) ranked as the most common form of renal involvement. Post-infectious glomerulonephritis (PIGN) in adults has been associated with a number of pathogens occurring in diverse sites. The patient described in this case report had RPGN and biopsy findings suggestive of PIGN with C3 and IgA detected on immunofluorescence and kidney injury secondary to recent infection by Staphylococcus, a well-documented manifestation of renal impairment in patients with Hansen's disease.

RESUMO A Glomerulonefrite Rapidamente Progressiva (GNRP) é um padrão de doença renal com amplo diagnóstico diferencial. O caso reporta uma paciente de 55 anos com deterioração aguda e progressiva da função renal após quadro de piodermite em membro inferior com diagnóstico concomitante de hanseníase. Associação da hanseníase com doença renal é bem descrita, sendo a GN a forma de acometimento renal mais comum. As glomerulonefrites pós-infecciosas (GNPIs) em adultos ocorrem devido a um grande número de patógenos, nos mais diversos sítios. A paciente do caso relatado apresentava quadro de GNRP e achados de biópsia que sugerem GNPI com marcação de C3 e IgA na imunofluorescência, sugestiva de lesão renal secundária a infecção recente por Staphylococcus, uma manifestação bem descrita de doença renal em pacientes com hanseníase.

Glomerulonefritis rápidamente progresiva asociada con vasculitis por ANCA / Rapidly progressive glomerulonephritis associated with ANCA-vasculitis

Resumen El glomérulo renal, estructura altamente vascularizada, se ve afectado por un grupo de vasculitis de pequeño vaso asociadas con anticuerpos anticitoplasma de neutrófilo (ANCA), descritas por su relativa escasez de depósitos inmunes como pauciinmunes. Estas vasculitis se clasifican según el consenso internacional de Chapel-Hill en poliangeítis microscópica, granulomatosis con poliangeítis, granulomatosis eosinofílica y la llamada vasculitis limitada al riñón. Desde el punto de vista anatomopatológico, la glomerulonefritis rápidamente progresiva puede dividirse en pauciinmune, antimembrana basal glomerular (GBM GN) y mediada por inmunocomplejos. El tratamiento, en general, es con inmunosupresor y terapia renal de soporte desde medidas conservadoras hasta tratamiento de sustitución renal. Se comunica un caso de glomerulonefritis rápidamente progresiva asociada con ANCA por confirmación anatomopatológica.

Abstract The renal glomerulus highly vascularized structure is affected by a small vessel vasculitis group associated with neutrophil cytoplasmic antibodies (ANCA) described by its relative scarcity of pauci-immune deposits as immune. This vasculitis is classified according to international consensus in Chapel-Hill microscopic poliangetitis, granulomatosis with polyangiitis, eosinophilic granulomatosis and the called vasculitis limited to the kidney. From the anatomopathological point of view, the rapidly progressive glomerulonephritis can be divided into pauci-immune, anti glomerular basement membrane and mediated by immune complexes. The treatment is generally based on immunosuppressive therapy and renal therapy support from conservative measures to renal replacement therapy. This paper reports a case of rapidly progressive glomerulonephritis associated with ANCA pathological confirmation.

Inusual causa de deterioro progresivo de la función renal / Uncommon cause of progressive renal function decline

Toda vez que a lo largo de 3 meses hay una caída del 50% del filtrado glomerular estamos en presencia de lo que se define como deterioro rápidamente evolutivo de la función renal. Si además es acompañado de un sedimento urinario activo, inferimos estar frente a una glomerulopatía rápidamente evolutiva, una microangiopatía trombótica, una enfermedad renal ateroembólica o una nefritis intersticial. La mayoría de las veces la celeridad con que se inicia el tratamiento impacta en el resultado del mismo, lo que con frecuencia obliga a realizarlo en forma empírica. No obstante, como la terapéutica a emplear no es inocua, debemos extremar las medidas diagnósticas para definir la etiología, este caso es un ejemplo de ello

Whenever there is a 50% drop in glomerular filtration over 3 months we are in the presence of what is defined as rapidly progressive deterioration of renal function. If it is also accompanied by an active urinary sediment, it is inferred that one of these may be taking place: a rapidly progressive glomerulonephritis, a thrombotic microangiopathy, an atheroembolic renal disease or an interstitial nephritis. In most cases the speed with which the treatment is initiated impacts on its result, which often requires that it is done empirically. However, as the therapy used is not innocuous, we must maximize diagnostic measures to define the etiology; this case is an example of this

ANCA-associated rapidly progressive glomerulonephritis in a patient with IgA nephropathy, case report / Glomerulonefritis rápidamente progresiva asociada a ANCA en un paciente con nefropatía por IgA, reporte de caso

Abstract IgA nephropathy is the most common glomerulonephritis, in which less than 10% of patients have a rapid decline of renal function. The histological findings of this group resemble those of vasculitis, with presence of crescents and fibrinoid necrosis. The coexistence of IgA nephropathy and neutrophil anti-cytoplasmic antibodies is infrequent, and the pathogenic role of these antibodies in IgA nephropathy is unclear. Here we describe a case of a patient with IgA nephropathy, rapidly progressive glomerulonephritis and neutrophil positive anti-cytoplasmic antibodies, and literature review is presented.

Resumen La nefropatía por IgA es la glomerulonefritis más frecuente, en la cual menos del 10% de los pacientes cursan con deterioro rápido de la función renal. Los hallazgos histológicos de este grupo semejan los de vasculitis, con presencia de semilunas y necrosis fibrinoide. La coexistencia de nefropatía por IgA y anticuerpos anticitoplasma de neutrófilo es infrecuente y no está claro el rol patogénico de estos anticuerpos en la nefropatía por IgA. A continuación, se describe un caso de un paciente con nefropatía por IgA, glomerulonefritis rápidamente progresiva y anticuerpos anticitoplasma de neutrófilo positivos y se realiza una revisión de la literatura referente al tema.

Síndrome pulmón riñón, reporte de caso y revisión de la literatura / Pulmonary-renal syndrome, case report and literature review / Síndrome Pulmão-Rim, relato de um caso e revisão da literatura

Resumen: El complejo del síndrome pulmón riñón (SPR) se define como la combinación de hemorragia alveolar difusa acompañada de glomerulonefritis rápidamente progresiva, dentro del protocolo de diagnóstico se requieren niveles de anticuerpos anticitoplasma de neutrófilos (ANCA), broncoscopia, tomografía de tórax y estudio de sedimento urinario, es más común que se manifieste en el sexo masculino entre la edad de 40 y 55 años, siendo infrecuente en población joven. Se han descrito tres formas principales, la granulomatosis con poliangeítis, síndrome de Churg Strauss y síndrome de Goodpasture (SGP). En cualquiera de sus presentaciones se asocia a una elevada tasa de mortalidad que requiere manejo multidisciplinario con soporte ventilatorio, sustitución de la función renal, manejo específico con esteroide sistémico y terapia inmunosupresora. La introducción de la ciclofosfamida en combinación con esteroides anunció una alternativa en el tratamiento de las vasculitis observando disminución en la mortalidad en comparación con los glucocorticoides como monoterapia. El objetivo de este artículo es presentar el caso de un paciente con SPR y revisar la patogénesis, el abordaje diagnóstico y tratamiento, haciendo énfasis en la importancia del manejo multidisciplinario en la unidad de cuidados intensivos.

Abstract: The complex syndrome lung-kidney or pulmonary renal syndrome (PRS) is defined as the combination of diffuse alveolar hemorrhage accompanied by rapidly progressive glomerulonephritis, within the diagnostic protocol levels of anti-cytoplasm (ANCA), bronchoscopy, chest tomography and study required urinary sediment, occurs more commonly in males between 40 and 55 years, being rare in young people, described three main forms granulomatosis with polyangiitis, Churg Strauss syndrome Goodpasture (SGP), in any of its presentations is associated with a high mortality rate requiring multidisciplinary management with ventilatory support, replacement of renal function, specific management with systemic steroid and immunosuppressive therapy. The introduction of cyclophosphamide in combination with steroids announced an alternative in the treatment of vasculitis finding decrease mortality compared with glucocorticoids as monotherapy. The aim of this paper is to present the case of a patient with PSR, review the pathogenesis, diagnosis and treatment approach, emphasizing the importance of multidisciplinary management in the Intensive Care Unit.

Resumo: A complexa síndrome do Pulmão-Rim (SPR) é definida como a combinação de hemorragia alveolar difusa e glomerulonefrite rapidamente progressiva, dentro do protocolo de diagnóstico é necessário níveis de anticorpos anti citoplasmáticos de neutrófilos (ANCA), broncoscopia, tomografia torácica e estudo do sedimento urinário. A síndrome é mais frequente em homens entre 40 e 55 anos, sendo raro na população jovem. Descreveu-se três formas principais: Granulomatose com Poliangeíte, Síndrome de Churg Strauss e síndrome de Good-Pasture (SGP), em qualquer das suas apresentações é associada com uma alta taxa de mortalidade, requerendo uma abordagem multidisciplinar com suporte respiratório, substituição da função renal, tratamento específico com esteróide sistêmico e terapia imunossupressora. A introdução da ciclofosfamida combinada com esteróides é uma alternativa no tratamento da vasculite, diminuindo a mortalidade, em comparação aos glucocorticóides como monoterapia. O objetivo deste artigo é apresentar o caso de um paciente com SPR, revisar a patogênese, a abordagem diagnóstica e o tratamento, enfatizando a importância do tratamento multidisciplinar na unidade de terapia intensiva.

Nursing care of two cases of anti-glomerular basement membrane disease / 现代临床护理

Objective To summarize the experience in nursing 2 patients with anti-glomerular basement membrane disease.Method The nursing measures such as close observation of disease condition,careful nursing of medication,nursing during the treatment of double filtrated plasmapheresis and mental care to the patients and their family members.Results After treatment,the concentration of anti-GBM antibody was declined and the level of serum creatinine was also decreased.The renal function got rccovered to a certain extent.Conclusion Such nursing points as close observation of renal and pulmonary pathgenesis,timely and accurate administration of medicine according to doctor's orders and active observation and prevention of complication from double filtrated plasmapheresis are key.

Enfermedad de Creutzfeldt-Jakob familiar: a propósito de un caso de demencia rápidamente progresiva en Chile / Creutzfeldt-Jakob familial disease: about a rapidly progressive dementia case in Chile

La enfermedad de Creutzfeldt-Jakob (ECJ) corresponde una enfermedad por priones, la cual se manifiesta como demencia rápidamente progresiva. Dentro de sus manifestaciones clínicas puede presentar deterioro cognitivo progresivo y mioclonías, entre otros. El objetivo de este trabajo es dar a conocer la ECJ de variante familiar, mediante la presentación de un caso clínico. Presentación del caso: Paciente de 67 años, con antecedentes de familiares fallecidos por ECJ, previamente autovalente, que consulta por cuadro de 2 meses de evolución, caracterizado por deterioro cognitivo progresivo, desorientación temporo-espacial, mioclonías y apraxia ideomotora principalmente. Dentro del estudio realizado durante su hospitalización, destaca resonancia magnética de cerebro que describe hiperintensidad de señal bilateral simétrica en ganglios basales y cortezas frontales paramedianas. Además de electroencefalograma (EEG) que muestra descargas agudas de morfología trifásica. Esto junto a la clínica y exámenes complementarios permiten plantear una probable ECJ de variante familiar. Discusión: La aproximación diagnóstica a la ECJ es principalmente clínica, siendo el estudio histopatológico mediante biopsia cerebral el GOLD standard. Dentro de los estudios fundamentales que apoyan el diagnóstico de ECJ, se encuentra la resonancia magnética (RM) y EEG característicos. El diagnóstico de la variante familiar de ECJ se basa en el estudio genético del codón 200 y 129. Se expone una enfermedad no conocida de forma completa, de la cual aún no existen métodos diagnostico totalmente certeros, salvo por la biopsia. Es por esto que los aspectos clínicos son de gran relevancia para su sospecha, representando un desafío para el medico actual.

Introduction: Creutzfeldt-Jakob disease (CJD) is a prion disease, which manifests itself as a rapidly progressive dementia. Within its clinical manifestations may present progressive cognitive impairment and myoclonus, among others. The aim of this paper is to present the familal-type CJD by presenting a clinical case. Case Report: 67-year-old patient with a history of relatives who died of CJD, previously autovalent that consults for a 2 months period characterized by progressive cognitive impairment, time and space disorientation, myoclonus and ideomotor apraxia. In the study carried out during his hospitalization, he was studied with a brain magnetic resonance that describes symmetrical bilateral signal hyperintensity in basal ganglia and paramedian frontal cortex. In addition the electroencephalogram (EEG) showed acute discharges of three-phase morphology. These findings together, with the clinical manifestations and complementary tests allowed to raise a probable familial CJD. Discussion: The diagnostic approach to CJD is mainly clinical, with the GOLD standard being the histopathological study using cerebral biopsy. Among the fundamental studies that support the diagnosis of CJD are the characteristic MRI and EEG. The diagnosis of the familial type of CJD is based on a genetic study of codon 200 and 129. This case exposes a disease of which is not yet fully known which there are still no completely accurate diagnostic methods, except for the biopsy. That is why the clinical aspects are of great relevance to suspect it, representing a challenge for the current doctor.

The importance of recognizing faciobrachial dystonic seizures in rapidly progressive dementias / A importância do reconhecimento das crises distônicas faciobraquiais nas demências rapidamente progressivas

ABSTRACT Background: Creutzfeldt-Jakob Disease (CJD) is the prototypical cause of rapidly progressive dementia (RPD). Nonetheless, efforts to exclude reversible causes of RPD that mimic prion disease are imperative. The recent expanding characterization of neurological syndromes associated with antibodies directed against neuronal cell surface or sympathic antigens, namely autoimmune encephalitis is shifting paradigms in neurology. Such antigens are well known proteins and receptors involved in synaptic transmission. Their dysfunction results in neuropsychiatric symptoms, psychosis, seizures, movement disorders and RPD. Faciobrachial dystonic seizure (FBDS) is a novel characterized type of seizure, specific for anti-LGI1 encephalitis. Objective: In order to improve clinical recognition we report the cases of two Brazilian patients who presented with characteristic FDBS (illustrated by videos) and anti-LGI1 encephalitis. Methods: We have included all patients with FBDS and confirmed anti-LGI1 encephalitis and video records of FDBS in two tertiary Brazilian centers: Department of Neurology of Hospital das Clínicas, Sao Paulo University, Sao Paulo, Brazil and Hospital Geral de Fortaleza, Fortaleza, Brazil between January 1, 2011 and December 31, 2015. Results: Both patients presented with clinical features of limbic encephalitis associated with FBDS, hyponatremia and normal CSF. None of them presented with tumor and both showed a good response after immunotherapy. Conclusion: FBDSs may be confounded with myoclonus and occurs simultaneously with rapid cognitive decline. Unawareness of FDBS may induce to misdiagnosing a treatable cause of RPD as CJD.

RESUMO Embasamento: A doença de Creutzfeldt-Jakob (DCJ) é o protótipo de demência rapidamente progressiva (DRP). No entanto, é imperativo que sejam excluídas causas reversíveis de DRPs que possam simular doença priônica. A recente caracterização de síndromes neurológicas associadas a anticorpos direcionados contra antígenos de superfície neuronal ou sinapse, assim denominadas de encefalites autoimunes, está mudando paradigmas em neurologia. Esses antígenos estão envolvidos na transmissão sináptica, sendo que as disfunções destes podem resultar em sintomas neuropsiquiátricos, psicose, crises epilépticas, distúrbios do movimento e DRP. A crise distônica faciobraquial (CDFB) é um tipo de crise recentemente caracterizada e específica da encefalite anti-LGI1. Objetivo: Para promover um melhor reconhecimento da doença relatamos os casos de 2 pacientes brasileiros que apresentaram CDFBs (ilustradas com vídeos) associadas à encefalite anti-LGI1. Métodos: Foram incluídos todos os pacientes com CDFBs e encefalite anti-LGI1 confirmados em 2 centros brasileiros terciários: Departamento de Neurologia do Hospital das Clínicas da Universidade de São Paulo, São Paulo, Brasil e o Hospital Geral de Fortaleza entre 01 de janeiro de 2011 e 31 de dezembro de 2015. Resultados: Ambos os casos apresentaram quadro clinico típico de encefalite límbica associada a CDFBs e exame do LCR sem alterações. Nenhum caso associou-se à presença de neoplasia e ambos apresentaram boa resposta à imunoterapia. Conclusão: A CDFB podem ser confundidas com mioclonias e ocorrer simultaneamente com rápido declínio cognitivo, o seu não reconhecimento pode induzir ao diagnóstico errôneo de uma causa potencialmente tratável de DRP como sendo DCJ.

Glomerulonefritis con semilunas / Glomerulonephritis with crescents

La glomerulonefritis rápidamente progresiva (GNRP) es una entidad caracterizada por una brusca y progresiva declinación de la función renal y por la presencia en la biopsia renal de proliferación celular extra capilar (semilunas) que ocupan el espacio de Bowmans. Nosotros analizamos en forma retrospectiva 37 niños con diagnóstico de GNRP (50% o más de los glomérulos con semilunas) asistidos en esta institución durante los últimos 20 años. El propósito fue evaluar la presentación clínica e histopatológica, etiología, evolución y factores de mal pronóstico. La edad media al diagnóstico fue de 11 ± 3,5 años. Los síntomas de presentación fueron: hematuria 100% de los casos (hematuria macroscópica 56%); hipertensión arterial 92%; proteinuria 88%; síndrome nefrótico 57%. Fue necesaria diálisis al ingreso en el 64,1% de los casos. Las biopsias renales fueron realizadas a 38 ± 26 días desde el comienzo de los síntomas. El porcentaje de glomérulos que presentaron semilunas fue del 81,4%; las mismas fueron epiteliales en el 28,3% de los casos; fibroepiteliales en el 21,8% y fibrosas en el 31,3%. En el 75,8% de las biopsias se encontró fibrosis intersticial y atrofia tubular moderada y/o severa. La inmunofluorescencia no mostro depósitos de complejos inmunes (GN pauci-inmune) en el 40,6% de las biopsias, mostró depósitos granulares de complejos inmunes en el 48,6% y depósitos lineales de anticuerpos anti membrana basal glomerular (Goodpasture´s) en el 10,8%. El tratamiento fue iniciado a 36 ± 32 días desde el comienzo de los síntomas. Todos los pacientes recibieron tratamiento de sostén; en 29 de ellos se indicaron además esteroides y ciclofosfamida, y en 5 solo esteroides. El tiempo medio de seguimiento fue de 4,6 ± 3,9 años. La sobrevida de los pacientes al final del seguimiento fue del 87% (IC95% 55-97%) y la sobrevida del órgano fue del 17% (IC95% 7-38%). Por análisis multivariado encontramos que la fibrosis intersticial y atrofia tubular moderada y/o severa fue el único factor que se relacionó con pérdida del órgano (OR: 14,6 IC95%2,6-80) p= 0,001. Nuestros resultados muestran que la GNRP en niños es una entidad con pobre pronóstico en relación a la función renal. El factor de peor pronóstico que puede llevar a la pérdida del órgano es el compromiso túbulo-intersticial (AU)

Rapidly progressive glomerulonephritis (RPGN) is characterized by a sudden and progressive decrease of kidney function and extra-capillary cell proliferation (crescents) occupying the Bowman's space on the biopsy. We retrospectively analysed 37 children with RPGN (50% or more of glomeruli with crescents) seen at our institution over the past 20 years. The purpose of the study was to evaluate clinical and histopathological presentation, etiology, outcome, and factors of poor prognosis. Mean age at diagnosis was 11 ± 3.5 years. Presenting symptoms were: hematuria in 100% of the cases (macroscopic hematuria 56%); arterial hypertension in 92%; proteinuria in 88%; and nephrotic syndrome in 57%. Dialysis was necessary on admission in 64.1% of the cases. Kidney biopsies were performed at 38 ± 26 days after symptom onset. The percentage of glomeruli that presented crescents was 81.4%; they were epithelial in 28.3% of the cases, fibroepithelial in 21.8%, and fibrous in 31.3%. In 75.8% of the biopsies interstitial fibrosis and moderate and/or severe tubular atrophy was found. Immunofluorescence techniques did not show immune complex deposits (pauci-immune GN) in 40.6% of the biopsies. Granular deposits of immune complexes were found in 48.6% and linear anti-glomerular basement membrane deposits (Goodpasture´s) in 10.8%. Treatment was started 36 ± 32 days after symptom onset. All patients received support treatment; in 29 steroids and cyclophosphamide were also indicated, and in 5 steroids only. Mean time of follow-up was 4.6 ± 3.9 years. Patient survival at the end of follow-up was 87% (95%CI 55-97%) and organ survival was 17% (95%CI 7-38%). On multivariate analysis we found that interstitial fibrosis and moderate and/or severe tubular atrophy was the only factor related to organ loss (OR: 14.6; 95%CI 2.6-80) p= 0.001). Our results show that RPGN in children has a poor prognosis regarding kidney function. Tubulo-interstitial involvement is the factor of poor prognosis that may lead to organ loss (AU)

Revisión de Creutzfeld-Jakob a propósito de dos casos clínicos en el Hospital Universitario San Ignacio / Creutzfeldt-Jakob review based on two clinical cases in Hospital Universitario San Ignacio

La enfermedad de Creutzfeld-Jakob es una patología neurodegenerativa fatal e intratable, que hace parte de las denominadas encefalopatías espongiformes y se produce por la acumulación anormal de la PrP (proteína priónica patogénica),denominada PrPsc, a nivel del sistema nervioso central. La enfermedad priónica humana más común es la forma esporádica de la enfermedad de Creutzfeld-Jakob, cuya aparición se ha relacionado con los efectos ambientales desconocidos o los sucesos aleatorios y genéticos, que resultan en la producción espontánea de PrP en el cerebro. A continuación se presentan dos casos clínicos de dos mujeres que consultan al servicio de urgencias del Hospital Universitario San Ignacio, en quienes se sospechó encefalopatía rápidamente progresiva, compatible con enfermedad de Creutzfeld-Jakob.

Creutzfeldt-Jakob disease is a fatal and untreatable neurodegenerative disorder that is part of the so-called spongiform encephalopathies, which is caused by the abnormal accumulation of PrP protein (called PrPSc) in the central nervous system. The most common human prion disease is sporadic form of Creutzfeldt-Jakob, whose appearance has been associated with environmental effects or unknown and random genetic events that result in the spontaneous production of PrP in the brain. In this work we will present two Clinical cases of two woman who visited the emergency room of the hospital Universitario San Ignacio, in which a rapidly progressive encephalopathy caused by Creutzfeldt-Jakob disease is suspected.

Neurosyphilis Mimicking Creutzfeldt-Jakob Disease

BACKGROUND: As rapidly progressive dementia (RPD), general paresis and Creutzfeldt-Jakob disease (CJD) may have overlapping clinical presentation due to a wide variety of clinical manifestations. CASE REPORT: A 57-year-old man presented with rapid progressive cognitive decline, behavioral change, ataxic gait, tremor and pyramidal signs for 3 months. In addition to these multiple systemic involvements, positive result for the cerebrospinal fluid (CSF) 14-3-3 protein tentatively diagnosed him as probable CJD. However, due to increased serum rapid plasma reagin, venereal disease research laboratory, and fluorescent treponemal antibody-absorption reactivity in CSF, the final diagnosis was changed to general paresis. CONCLUSIONS: A patient with RPD needs to be carefully considered for differential diagnosis, among a long list of diseases. It is important to rule out CJD, which is the most frequent in RPD and is a fatal disease with no cure. Diagnostic criteria or marker of CJD, such as 14-3-3 protein, may be inconclusive, and a typical pattern in diffusion-weighted imaging is important to rule out other reversible diseases.

Eosinophilic granulomatosis with polyangiitis accompanied by rapidly progressive glomerulonephritis

Eosinophilic granulomatosis with polyangitis (EGPA) should be considered in asthmatic patients who present with severe systemic symptoms and eosinophilia. Progressive renal insufficiency can occur during the acute phase of EGPA accompanied by renovascular involvement. A 58-year-old man visited local clinic with complaints of malaise, weight loss, fever, and dyspnea. Eosinophilia was revealed in peripheral blood. Pulmonary function tests were carried out, which yielded decreased lung function with positive bronchodilator response. Kidney and skin biopsies were performed, and histological examination showed acute necrotizing crescentic glomerulonephritis and leukoclastic vasculitis in the skin, which led to a diagnosis of EGPA (Churg-Strauss syndrome) associated with rapidly progressive glomerulonephritis. The patient received pulse steroid therapy with parenteral methylprednisolone, followed by oral prednisolone. Clinical and laboratory findings improved dramatically, and remission was attained rapidly. The patient continued to be in remission for 5 months. Prompt and aggressive treatment with systemic corticosteroids is mandatory to control disease activity and to achieve remission.

Magnetic ressonance imaging in the diagnosis of Creutzfeldt-Jakob disease: report of two cases / Ressonância magnética no diagnóstico da doença de Creutzfeldt-Jakob: relato de dois casos

ABSTRACT Creutzfeldt-Jacob disease (CJD) is a rare condition caused by a pathogenic prion protein that evolves with rapidly progressive dementia and death. The clinical presentation may sometimes be misleading. Magnetic Resonance Imaging (MRI) aids diagnosis with patterns that can guide or confirm clinical hypotheses. Two cases of rapidly progressive dementia with ataxia, myoclonus and restricted diffusion on MRI in cortical/basal ganglia are presented to draw attention to CJD.

RESUMO Doença de Creutzfeldt-Jacob (CJD) é uma rara doença relacionada a uma proteína priônica patogênica que evolui com demência rapidamente progressiva e morte. Por vezes, a apresentação clínica é inespecífica e desafiadora. A ressonância magnética contribui para o diagnóstico com padrões de imagem que podem orientar ou confirmar as hipóteses diagnósticas baseadas na clínica. Serão apresentados dois casos de pacientes com a forma esporádica da doença.

Síndrome pulmón-rinón: serie de casosdel Hospital Universitario San Ignacio / Pulmonary - renal syndrome: case series Hospital Universitario San Ignacio

El síndrome pulmón-rinón ˜ (SPR) se define como la presencia de hemorragiaalveolar y glomerulonefritis rápidamente progresiva. Fue descrito, inicialmente, como síndromeantimembrana basal glomerular, aunque existen otros mecanismos más frecuentesimplicados en la lesión, tales como vasculitis ANCA (anticitoplasma de neutrófilo), lupuseritematoso sistémico, síndrome antifosfolípido, crioglobulinemia y microangiopatía trombótica.Objetivo: Describir la experiencia de nuestro centro en el manejo de pacientes con SPR,analizar las variables demográficas, clínicas y sus desenlaces.Métodos: Se revisaron las bases de datos de la Unidad de Nefrología y la historia clínicaelectrónica SAHI del Hospital Universitario San Ignacio.Resultados: Se identificaron un total de 14 pacientes que presentaron SPR, entre enero de2009 y agosto de 2011, todos, inicialmente, manejados en la unidad de cuidado intensivodel hospital, con un promedio de edad de 44 anos ˜ y 57% de sexo femenino. El diagnósticomás frecuente fue vasculitis ANCA positivo en 8 pacientes, lupus en 4, un caso decrioglobulinemia y uno de microangiopatía trombótica. La mayoría recibió tratamiento concorticosteroides, ciclofosfamida y plasmaféresis. La mortalidad fue de 66%.Conclusiones: Presentamos los resultados de 14 pacientes con SPR en nuestro centro. La causamás frecuente fue vasculitis ANCA. Su presentación suele ser agresiva y el tratamientoincluye uso de esteroides, ciclofosfamida y plasmaféresis...

Pulmonary- renal syndrome (PRS) is defined as the presence of alveolar hemorrhageand rapidly progressive glomerulonephritis. It was initially described as glomerularbasement membrane syndrome, although other more common causes and mechanisms areinvolved such as, anti-neutrophil cytoplasmic antibody-associated vasculitis (ANCA), systemiclupus erythematosus, antiphospholipid syndrome, cryoglobulinemia, and thromboticmicroangiopathy.Objective: To describe the experience in the treatment of patients with PRS in our centerand analyze the demographic, clinical variables, and outcomes.Methods: The databases of the Nephrology Unit and the electronic medical records of thehospital were reviewed, and a total of 14 patients with PRS between January 2009 and August2011 were identified.Results: A total of 14 cases managed in the intensive care unit of the hospital where analyze,of which 57% were woman and the mean age was 44 years. The most frequent diagnosiswas positive ANCA vasculitis in 8 patients, lupus in 4, one case of cryoglobulinemia, andother with thrombotic microangiopathy. Most of them were treated with corticosteroids andcyclophosphamide, with 10 patients also receiving plasmapheresis. The overall mortalitywas 66%.Conclusions: The results of 14 patients with PRS in our center are presented. The mostcommon cause of this was positive ANCA vasculitis. It is an aggressive disease and itstreatment included the use of steroids, cyclophosphamide and plasmapheresis...