Intravascular lymphoma: A diagnostic challenge for a treatable cause of rapidly progressive dementia.

Intravascular large B-cell lymphoma (IVLBCL) is a rare hematological malignancy where its development in the intravascular environment is the main characteristic. Despite its ability to affect multiple organic systems, there is a tropism for the central nervous system, which may be related to several clinical syndromes, making this condition a great mimic and consequently a diagnostic challenge. Rapidly progressive dementia may be one of the presenting phenotypes of IVLBCL. This case report aims to highlight the main red flags, such as sustained elevation of lactate dehydrogenase, organomegaly and specific lesions with vasculitis-like bleeding, all that can be used as clinical clues to direct the differential diagnosis. In addition, it reinforces the role of early brain biopsy in this context, since IVLBCL is a treatable disease.

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.

Case Report: Three Case Reports of Rapidly Progressive Dementias and Narrative Review.

Rapidly progressive dementia (RPD) is a heterogeneous group of diseases characterized by cognitive impairment and other neurological disorders developed in a short span of fewer than 2 years. Currently viewed as new and infrequent entities, most medical personnel have little understanding of it. Nevertheless, they significantly compromise many patients' quality of life. Here, we drive 3 clinical cases that evolve as RPD with different etiologies. Case 1: 70-year-old woman presented to the emergency with neuropsychiatric syndrome for 18 days. The researchers identified inflammatory cerebrospinal fluid (CSF), protein 14-3-3-positive T-tau protein, MRI: T2 and FLAIR hyperintensities in bilateral caudate nuclei with diffusion restriction, EEG shows a generalized periodic pattern with triphasic wave morphology. Case 2: 29-year-old man with cognitive impairment and faciobrachial dystonia seizure. The diagnosis was confirmed by achieving elevated antibodies against voltage-gated potassium channels. Case 3: A 49-year-old woman with encephalopathy and myoclonic seizures; EEG and MRI showed subtle changes. The patient also had a normal CSF but a positive CBA serologic NMDA-R antibody test. We described fundamental aspects of RPD to allow made differential diagnoses in patients with cognitive impairment and encephalopathy. Establishing an early and accurate diagnosis can benefit patients with RPD etiologies that are treatable and even reversible, decreasing in morbidity and mortality.

Experience with Creutzfeldt-Jakob disease in a single referral center in Mexico. Case series.

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.

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.

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, 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.

Second-Generation RT-QuIC Assay for the Diagnosis of Creutzfeldt-Jakob Disease Patients in Brazil.

The recent development of IQ-CSF, the second generation of real-time quaking-induced conversion (RT-QuIC) using cerebrospinal fluid (CSF), for the diagnosis of Creutzfeldt-Jakob Disease (CJD) represents a major diagnostic advance in the field. Highly accurate results have been reported with encouraging reproducibility among different centers. However, availability is still insufficient, and only a few research centers have access to the method in developing countries. In Brazil, we have had 603 suspected cases of CJD since 2005, when surveillance started. Of these, 404 were undiagnosed. This lack of diagnosis is due, among other factors, to the lack of a reference center for the diagnosis of these diseases in Brazil, resulting in some of these samples being sent abroad for analysis. The aim of this research study is to report the pilot use of IQ-CSF in a small cohort of Brazilian patients with possible or probable CJD, implementing a reference center in the country. We stored CSF samples from patients with possible, probable or genetic CJD (one case) during the time frame of December 2016 through June 2018. All CSF samples were processed according to standardized protocols without access to the clinical data. Eight patients presented to our team with rapidly progressive dementia and typical neurological signs of CJD. We used CSF samples from seven patients with other neurological conditions as negative controls. Five out of seven suspected cases had positive tests; two cases showed inconclusive results. Among controls, there was one false-positive (a CSF sample from a 5-year-old child with leukemia under treatment). The occurrence of a false positive in one of the negative control samples raises the possibility of the presence of interfering components in the CSF sample from patients with non-neurodegenerative pathologies. Our pilot results illustrate the feasibility of having CJD CSF samples tested in Brazilian centers and highlight the importance of interinstitutional collaboration to pursue a higher diagnostic accuracy in CJD in Brazil and Latin America.

A Complete and State of the Art Pre-mortem Diagnostic Approach to Creutzfeldt-Jakob Disease: A Case Report.

Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal and rapidly progressive form of dementia caused by the spread of a prion protein within the brain. Its real incidence is unknown since its definitive diagnosis requires histopathological analysis of brain specimens. However, novel tests that detect prion proteins in cerebrospinal fluid samples, such as the real-time quaking-induced conversion (RT-QuIC) technique, now allow the pre-mortem diagnosis of sCJD. Here, we report the first case of sCJD confirmed by RT-QuIC in Latin America, providing evidence of its diagnostic performance and clinical correlation.

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

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.

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.

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.

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

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.

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.

Spectrum of acute kidney injury associated with cocaine use: report of three cases.

BACKGROUND: The consequences of cocaine use are multisystemic, such as, for instance, renal failure, hepatotoxicity and pulmonary toxicity, with renal alterations being the focus of the present study. The use of substances that modify the base composition of cocaine (or adulterants) aiming to potentiate its effects also has an impact on these manifestations. The present study aims to report three cases with different diagnosis of acute kidney injury related to cocaine use. CASE PRESENTATION: Case 01 - A 30-year-old female patient, who regularly used cocaine, started to have lower-limb edema, which showed a progressive and ascending evolution, affecting the face a few days later, associated with an isolated febrile episode and oligoanuria. The presence of cytoplasmic antineutrophil cytoplasmic antibodies (C-ANCA) was verified: reactive 1:80, with renal biopsy compatible with rapidly progressive glomerulonephritis (RPGN). Case 02 - A 34-year-old female patient, with difficult-to-control hypertension and a frequent user of cocaine, showed generalized sudden edema together with diffuse and progressive pruritus associated with oliguria, fever, nausea, and vomiting. Schistocyte screening was positive, with negative direct Coombs test, and negative serologies for hepatitis B, C and HIV, as well as negative anti-double-stranded DNA, Anti-SSA and Anti-SSB. The renal biopsy was compatible with thrombotic microangiopathy, associated with moderate interstitial fibrosis and acute tubular necrosis Case 03 - A 25-year-old male patient who had been a cocaine user for 5 years had a sudden onset of generalized disabling myalgia (especially in the lower limbs) associated with recent frontotemporal headache, palpitation, dizziness, and a non-measured febrile episode; the patient had used cocaine at the night before symptom onset. CPK was 1731 U/L.The final probable diagnosis was AKI secondary to cocaine-induced rhabdomyolysis. CONCLUSIONS: In conclusion basically, 05 etiologies of acute kidney injury should always be remembered: rhabdomyolysis, thrombotic microangiopathy, vasculitis, acute interstitial nephritis and renal infarction. Emphasis should be given to rhabdomyolysis due to its higher prevalence. Considering the increasing rates of cocaine use, especially with the use of adulterating substances, these pathologies will likely be increasingly prevalent.

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.

Case series of Creutzfeldt-Jakob disease in a third-level hospital in Quito.

BACKGROUND: Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder that affects mammals and humans. The prevalence of this disease in the United States is 0.5 to 1 per million inhabitants. So far in Ecuador, we do not know what the prevalence or incidence is, and only one case report has been written. CASE PRESENTATION: We present a case series of Creutzfeldt-Jakob disease in a third-level hospital in Quito. The average age of symptom onset in our patients was 58.8 years. The male to female ratio was 1:1. Two patients began with cognitive/behavioral symptoms, while 4 patients began with focal neurological signs; 1 case with ataxia, 2 with gait disorders and 1 with vertigo and headache. All of the patients had the clinical features established by the World Health Organization. In addition, the entire cohort was positive for the 14-3-3 protein in cerebrospinal fluid, and had high signal abnormalities in caudate and putamen nucleus in DWI and FLAIR IRM. Only in one case, did we reach a definitive diagnosis through a pathological study. All other cases had a probable diagnosis. In this series of cases, 6 out of 6 patients died. The average time from the onset of the symptoms to death in this cohort was 13 months. CONCLUSION: This is the first report of a series of cases of Creutzfeldt-Jakob disease in Quito. Although definitive diagnosis must be histopathological, there are ancillary tests currently available that have allowed us to obtain a diagnosis of the disease.

Prion disease.

Genetic prion diseases (gPrDs) are caused by autosomal-dominant mutations in the prion protein gene (PRNP). Although the first PRNP mutations identified, and most since, are PRNP missense, octapeptide repeat insertions, deletion and nonsense mutations have now also been shown to cause gPrD. Based on clinicopathologic features of familial disease, gPrDs historically have been classified into three forms: familial Jakob-Creutzfeldt disease, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia. This classification, however, occurred prior to the identification of PRNP, and although these forms are still recognized, classification now is somewhat more complex. Clinical manifestations, and even pathology, are known to be more heterogeneous and varied than the historic three phenotypic classifications. Most gPrDs either present rapidly with progression of dementia, ataxia, myoclonus, and other motor features leading to death in few months or present more slowly, declining over a few years with mild cognitive impairment, ataxia, or parkinsonism and later dementia; a few very rare mutations, however, present over years to decades with neuropsychiatric disorders and systemic symptoms (gastrointestinal disorders and neuropathy). In this chapter, we review the broad phenotypic spectrum of PRNP mutations causing gPrDs.

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.

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

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.