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1.
Arch. argent. pediatr ; 118(2): e174-e177, abr. 2020.
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1100429

RESUMO

La linfohistiocitosis hemofagocítica (LHH) puede ser primaria (hereditaria) o secundaria a infecciones, tumores malignos, trastornos reumatológicos, síndromes de inmunodeficiencia y metabolopatías. Se informaron casos de intolerancia a la proteína lisinúrica, deficiencia de múltiples sulfatasas, galactosemia, enfermedad de Gaucher, síndrome de Pearson y galactosialidosis. No se sabe cómo se desencadena la LHH en las metabolopatías. Se diagnosticó LHH en un lactante de 2 meses con letargo, palidez, alimentación deficiente, hepatoesplenomegalia, fiebre y pancitopenia, y se instauró el protocolo HLH-2004. Se realizaron, en conjunto, análisis para detectar mutaciones genéticas y pruebas metabólicas; los resultados fueron negativos para las mutaciones genéticas de LHH primaria, pero se detectaron hiperamoniemia y concentración elevada de metilcitrato. Se diagnosticó acidemia propiónica. Aquí informamos sobre un caso de LHH secundaria a acidemia propiónica. Es posible la realización simultánea de pruebas de detección de trastornos metabólicos y de mutaciones genéticas para el diagnóstico temprano en los lactantes con LHH


Hemophagocytic lymphohystiocytosis (HLH) may be primary (inherited/familial) or secondary to infections, malignancies, rheumatologic disorders, immune deficiency syndromes and metabolic diseases. Cases including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis have previously been reported. It is unclear how the metabolites trigger HLH in metabolic diseases. A 2-month-old infant with lethargy, pallor, poor feeding, hepatosplenomegaly, fever and pancytopenia, was diagnosed with HLH and the HLH-2004 treatment protocol was initiated. Analysis for primary HLH gene mutations and metabolic screening tests were performed together; primary HLH gene mutations were negative, but hyperammonemia and elevated methyl citrate were detected. Propionic acidemia was diagnosed with tandem mass spectrometry in neonatal dried blood spot. We report this case of HLH secondary to propionic acidemia. Both metabolic disorder screening tests and gene mutation analysis may be performed simultaneously especially for early diagnosis in infants presenting with HLH.


Assuntos
Humanos , Masculino , Lactente , Linfo-Histiocitose Hemofagocítica/diagnóstico , Acidemia Propiônica/diagnóstico , Pancitopenia , Esplenomegalia , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Acidemia Propiônica/tratamento farmacológico , Torpor , Terapia de Substituição Renal Contínua , Hepatomegalia
2.
Rev. Hosp. Ital. B. Aires (2004) ; 40(1): 25-28, mar. 2020. ilus
Artigo em Espanhol | LILACS | ID: biblio-1102210

RESUMO

Introducción: la zigomicosis es una infección fúngica poco frecuente, con alta tasa de mortalidad y de mal pronóstico. Afecta principalmente a pacientes inmunocomprometidos. La asociación con el síndrome hemofagocítico es extremadamente inusual, más aún en pacientes inmunocompetentes, con pocos ejemplos registrados en la literatura. Caso clínico: se presenta el caso de un paciente masculino inmunocompetente de 40 años con diagnóstico de mucormicosis y síndrome hemofagocítico que evoluciona desfavorablemente, con fallo multiorgánico, a pesar de los esfuerzos médicos. Conclusión: la asociación de mucormicosis con síndrome hemofagocítico en un paciente inmunocompetente es extremadamente rara; existen pocos casos informados en Latinoamérica. Debemos tener presente esta asociación, ya que requiere un tratamiento agresivo y soporte vital avanzado. (AU)


Introduction: zygomycosis is a rare fungal infection that carries with high mortality rates. This poor prognosis, rapidly progressive infection mainly affects immunocompromised patients. The association with hemophagocytic lymphohistiocytosis is extremely unusual, even more in immunocompetent patients, with few cases reported. Case: we present the case of an immunocompetent male patient who was diagnosed with zygomycosis and hemophagocytic lymphohistiocytosis. Despite medical efforts he developed multiorganic failure. Conclusion: the association of mucormycosis with hemophagocytic lymphohistiocytosis in an immunocompetent patient is exceptional with few cases reported in Latin America. We must always suspect this association considering they require aggressive treatment and advanced life support. (AU)


Assuntos
Humanos , Masculino , Adulto , Zigomicose/diagnóstico , Linfo-Histiocitose Hemofagocítica/diagnóstico , Pancitopenia/sangue , Agitação Psicomotora , Vancomicina/uso terapêutico , Norepinefrina/administração & dosagem , Norepinefrina/uso terapêutico , Anfotericina B/uso terapêutico , Exoftalmia/diagnóstico por imagem , Hospedeiro Imunocomprometido/imunologia , Colistina/uso terapêutico , Combinação Amoxicilina e Clavulanato de Potássio/administração & dosagem , Combinação Amoxicilina e Clavulanato de Potássio/uso terapêutico , Zigomicose/etiologia , Zigomicose/mortalidade , Zigomicose/epidemiologia , Delírio , Linfo-Histiocitose Hemofagocítica/etiologia , Linfo-Histiocitose Hemofagocítica/mortalidade , Febre , Meropeném/uso terapêutico , Imunocompetência/imunologia , Icterícia , Mucormicose/complicações , Insuficiência de Múltiplos Órgãos/diagnóstico
3.
Autops. Case Rep ; 9(3): e2019101, July-Sept. 2019. graf, tab, ilus
Artigo em Inglês | LILACS | ID: biblio-1016808

RESUMO

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare fatal autosomal recessive disorder of immune dysregulation. The disease presents most commonly in the first year of life; however, symptomatic presentation throughout childhood and adulthood has also been identified. Biallelic mutation in the perforin gene is present in 20%­50% of all cases of FHL. Secondary hemophagocytic lymphohistiocytosis (HLH) in association with hematological malignancies is known; however, whether mutations in HLH-associated genes can be associated with FHL and hematolymphoid neoplasms is not well documented. Also, Epstein­Barr-virus- (EBV) positive systemic T-cell lymphoproliferative disease (SE-LPD) in the setting of FHL is not clearly understood. Here, we present the case of a young boy who presented with typical features of childhood FHL harboring the perforin gene (PRF1) mutation, and had SE-LPD diagnosed on autopsy, along with evidence of recent EBV infection. The patient expired due to progressive disease. Five siblings died in the second or third decade of life with undiagnosed disease. Genetic counseling was provided to the two surviving siblings and parents, but they could not afford genetic testing. One surviving sibling has intermittent fever and is on close follow-up for possible bone marrow transplantation.


Assuntos
Humanos , Masculino , Adolescente , Antígenos Nucleares do Vírus Epstein-Barr , Linfo-Histiocitose Hemofagocítica/patologia , Autopsia , Evolução Fatal , Perforina , Linfoma
4.
Rev. cuba. pediatr ; 91(1): e490, ene.-mar. 2019. graf
Artigo em Espanhol | LILACS | ID: biblio-985599

RESUMO

Introducción: El síndrome hemofagocítico, llamado también linfohistiocitosis hemofagocítica o síndrome de activación macrofágica, es una grave enfermedad que se caracteriza por la activación exagerada del sistema inmune y aumento de la actividad linfocítica citotóxica y macrofágica, que puede ser potencialmente fatal. Objetivo: Describir un caso con este síndrome poco frecuente pero de alta mortalidad. Presentación del caso: Paciente de 10 meses, nacido de parto eutócico, a término, normopeso, con antecedentes de ingreso a los dos meses por sepsis, con aumento de las transaminasas y adenopatías cervicales. Se realizó biopsia del ganglio cervical y se diagnosticó adenitis granulomatosa. En esta ocasión, cuatro días antes del ingreso comenzó con fiebre y decaimiento; al examen físico presentó tiraje intercostal bajo, polipnea superficial, hepatomegalia y esplenomegalia. Exámenes complementarios, presentó anemia, transaminasas, albúmina y proteínas totales elevadas; orina con pigmentos biliares y cuerpos cetónicos positivos; plaquetas 100 x 109. Los especialistas de gastroenterología plantearon una colestasis del lactante. El paciente falleció y en la necropsia se constató una hepatoesplenomegalia, hígado amarillento, adenopatías mesentéricas y peripancreáticas, pulmones hemorrágicos con aumento de consistencia; en el estudio microscópico se encontró en hígado, bazo, médula ósea, y ganglios linfáticos, histiocitos con hemofagocítosis. Conclusiones: El síndrome hemofagocítico es una enfermedad poco frecuente que muchas veces no se sospecha y pasa inadvertido, por lo tanto hay que pensar en dicha entidad porque tiene implicaciones pronósticas graves para el paciente, como puede ser un desenlace fatal(AU)


Introduction: The hemophagocytic syndrome, also called hemophagocyticlymphohistiocytosis or macrophage activation´s syndrome is a serious disease characterized by exaggerated activation of the immune system and increased cytotoxic lymphocytic and macrophage activity, which can be potentially fatal. Objective: To describe a case with this rare syndrome with a high mortality rate, and the diagnosis was made postmortem in our hospital. Case presentation: A 10-month-old patient, born by natural delivery, with normal weight, with a history of admission at 2 months due to sepsis, with increased transaminases levels and cervical adenopathies. A cervical lymph node biopsy was performed, and granulomatous adenitis was diagnosed. On this occasion, four days before admission, he presented fever and weakness; physical examination revealed low intercostals retraction, superficial polypnea, hepatomegaly and splenomegaly. The complementary tests showed anemia, transaminases, albumin and total proteins with high levels; urine had bile pigments and positive ketone bodies; platelets 100 x 109. Gastroenterology specialists set out cholestasis of the infant. The patient died and at necropsy there were evidences of hepato splenomegaly, yellowish liver, mesenteric and peripancreatic adenopathies, hemorrhagic lungs with increased consistency. In the microscopic study, histiocytes with hemophagocytosis were found in liver, spleen, bone marrow, and lymph nodes. Conclusions: The hemophagocytic syndrome is a rare disease that often goes unnoticed. It has serious prognostic implications for the patient with a fatal outcome(AU)


Assuntos
Humanos , Masculino , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/patologia , Relatos de Casos
5.
Rev. méd. hondur ; 86(3/4): 134-137, jul.- dic. 2018.
Artigo em Espanhol | LILACS | ID: biblio-1022599

RESUMO

Antecedentes. El síndrome hemofagocítico (SH) es un síndrome de activación inmune patológica, infrecuente, subdiag-nosticada, su importancia radica en su gravedad, pues son cuadros muy agresivos que evolucionan en poco tiempo de forma fulmi-nante, con un fallo multiorgánico letal, antes de establecer un diagnóstico. Se encuentran en todos los grupos de edad, pero en gen-eral es más frecuente en los niños. Esta revisión se realizó con el propósito de conocer más a profundidad esta patología, identificar el padecimiento oportunamente y así mismo administrar el tratamiento temprano y adecuado para mejorar la supervivencia del paciente. Métodos: La búsqueda exhaustiva de artículos con menos de 10 años de publicación en las bases de datos PubMed, Scielo, Elsevier, Scribd, Medigraphic. Desarrollo y Conclusiones: Aunque el SH es de difícil identificación por los síntomas tan inespecíficos, si se diagnostica y trata en el momento oportuno, dada su elevada morbimortalidad se lograra salvar muchas vidas...(AU)


Assuntos
Humanos , Fagocitose , Linfo-Histiocitose Hemofagocítica/diagnóstico , Medula Óssea/lesões , Transtornos Linfoproliferativos
6.
J. bras. nefrol ; 40(4): 423-427, Out.-Dec. 2018. graf
Artigo em Inglês | LILACS | ID: biblio-984587

RESUMO

Abstract Hemophagocytic lymphohistiocytosis (HLH) is an uncommon and life-threating condition characterized by major immune activation and massive cytokine production by mononuclear inflammatory cells, due to defects in cytotoxic lymphocyte function. It is even more unusual in renal transplant recipients, in which it is often associated with uncontrolled infection. The mortality is high in HLH and differential diagnosis with sepsis is a challenge. The approach and management depend on the underlying trigger and comorbidities. We report a case of a 50-year-old renal transplant female admitted with fever and malaise 3 months post-transplant and presenting anemia, fever, hypertriglyceridemia, high levels of serum ferritin, and positive CMV antigenemia. Urine was positive for decoy cells and BKV-DNA. Graft biopsy showed CMV nephritis. Both blood and urine cultures where positive for E. coli. Hemophagocytosis was confirmed by bone marrow aspiration. Immunosuppression was reduced, and the patient received high-dose intravenous immunoglobulin and dexamethasone, with complete response after 3 weeks. We highlight the importance of early diagnosis and proper management of a rare and serious condition in a renal transplant patient, which can allow a favorable clinical course and improve survival rate.


Resumo A linfohistiocitose hemofagocítica (LHH) é uma condição incomum e potencialmente fatal, caracterizada por importante ativação imunológica e produção maciça de citocinas por células mononucleares inflamatórias, devido a defeitos na função linfocitária citotóxica. É ainda mais incomum em receptores de transplante renal, nos quais está freqüentemente associada a infecções não controladas. A mortalidade da LHH é alta, e o diagnóstico diferencial com sepse é um desafio. A abordagem e o tratamento dependem do gatilho e das comorbidades subjacentes. Relatamos o caso de uma paciente transplantada renal com 50 anos de idade, admitida com febre e mal-estar 3 meses após o transplante, apresentando anemia, febre, hipertrigliceridemia, níveis elevados de ferritina sérica e antigenemia positiva para CMV. A urina mostrou positividade para células decoy e BKV-DNA. A biopsia do enxerto mostrou nefrite por CMV. Ambas as culturas de sangue e urina foram positivas para E. coli. A hemofagocitose foi confirmada pelo aspirado de medula óssea. A imunossupressão foi reduzida e a paciente recebeu altas doses de imunoglobulina intravenosa e dexametasona, com resposta completa após 3 semanas. Destaca-se a importância do diagnóstico precoce e do manejo adequado de uma condição rara e grave em um paciente transplantado renal, o que pode permitir um curso clínico favorável e melhorar a taxa de sobrevida.


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/tratamento farmacológico , Transplante de Rim , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico
7.
Biomédica (Bogotá) ; 38(4): 456-462, oct.-dic. 2018. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-983954

RESUMO

El síndrome hemofagocítico es una condición clínica e histológica grave, secundaria a diferentes procesos. La glomerulonefritis colapsante es una podocitopatía proliferativa, generalmente de pronóstico desfavorable para la función renal. Se presenta un caso en el que las dos condiciones aparecieron asociadas, lo cual es una forma infrecuente de presentación del linfoma hepatoesplénico de células T. Se discute, asimismo, el papel de los marcadores de desdiferenciación podocitaria en esta glomerulopatía, y se revisan la fisiopatología y el tratamiento.


The hemophagocytic syndrome is a serious clinical-histological entity secondary to different diseases. Collapsing glomerulonephritis is a proliferative podocytopathy that usually has an unfavorable renal prognosis. We present a case in which both entities were associated, which is an infrequent form of hepatosplenic T-cell lymphoma. In addition, we review the role of the markers of podocyte dedifferentiation in this glomerulopathy and its pathophysiology and treatment.


Assuntos
Linfo-Histiocitose Hemofagocítica , Glomerulonefrite , Antígenos de Diferenciação , Insuficiência Renal , Linfoma , Transtornos Linfoproliferativos
8.
An. bras. dermatol ; 93(3): 422-425, May-June 2018. graf
Artigo em Inglês | LILACS | ID: biblio-949894

RESUMO

Abstract: Extranodal NK/T-cell lymphoma nasal type is a rare disease that mainly affects the nasal cavity and paranasal sinuses of males in the fifth decade of life. It has aggressive and locally destructive behaviour, and can be complicated by the hemophagocytic syndrome, conferring high lethality to the disease. This article describes a case of NK/T-cell lymphoma nasal type in a previously healthy patient, exemplifying its rapid and fulminant course.


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Nasais/patologia , Linfo-Histiocitose Hemofagocítica/patologia , Linfoma Extranodal de Células T-NK/patologia , Síndrome , Imuno-Histoquímica , Neoplasias Nasais/diagnóstico , Neoplasias Nasais/virologia , Evolução Fatal , Infecções por Vírus Epstein-Barr/complicações , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/virologia , Linfoma Extranodal de Células T-NK/diagnóstico , Linfoma Extranodal de Células T-NK/virologia
9.
Arch. pediatr. Urug ; 89(2): 122-128, abr. 2018. tab, ilus
Artigo em Espanhol | LILACS | ID: biblio-950131

RESUMO

La linfohistiocitosis hemofagocítica engloba un grupo heterogéneo de enfermedades que pueden presentarse a cualquier edad. La forma genética o primaria se manifiesta antes del año de vida y la forma adquirida o secundaria puede verse en cualquier grupo etario vinculada con procesos infecciosos, oncológicos, reumatológicos o inmunológicos. El diagnóstico requiere un alto índice de sospecha y se confirma con los criterios propuestos por la Histiocyte Society. La mortalidad relacionada con esta enfermedad es elevada. La presentación de este caso clínico pretende concientizar a los pediatras con el objetivo de lograr un diagnóstico precoz que permita iniciar un tratamiento oportuno, efectivo y dirigido.


Hemophagocytic lymphohistiocytosis includes an heterogeneous group of diseases that can occur at any age. The genetic or primary form manifests before the first year of life and the acquired or secondary form is usually related to infectious, oncological, rheumatic or immunologic processes and can be seen at any age. This diagnosis requires high rate of suspicion and it is confirmed by the Histiocyte Society's criteria. Death rate related to this condition is extremely high.This case report aims to raise awareness among pediatricians with the intention of obtaining an early diagnosis that allows clinicians to initiate effective and directed treatment opportunely.


A linfohistiocitose hemofagocítica engloba um grupo heterogêneo de doenças que podem ocorrer em qualquer idade. A forma genética ou primária manifesta-se antes de um ano de vida e a forma adquirida ou secundária pode se observar em qualquer faixa etária ligada a processos infecciosos, oncológicos, reumatológicos ou imunológicos. O diagnóstico requer um alto índice de suspeita e é confirmado pelos critérios propostos pela Hystiocyte Society. A mortalidade relacionada a essa doença é alta. A apresentação deste caso clínico tenta conscientizar os pediatras, com o objetivo de obter um diagnóstico precoce que permita iniciar um tratamento oportuno, eficaz e dirigido.


Assuntos
Humanos , Masculino , Linfo-Histiocitose Hemofagocítica , Linfo-Histiocitose Hemofagocítica/diagnóstico
10.
Rev. méd. hered ; 28(3): 182-186, jul.-set. 2017. ilus
Artigo em Espanhol | LILACS, LIPECS | ID: biblio-991421

RESUMO

Se presenta el caso de una paciente trasplantada renal de 60 años, quien presentó síndrome hemofagocítico secundario a infección por Citomegalovirus (CMV). La presentación clínica fue inespecífica con fiebre, bicitopenia, niveles altos de ferritina, hepatoesplenomegalia y hemofagocitósis confirmada por aspirado de médula ósea; evoluciono a shock séptico, siendo trasladada grave a la Unidad de cuidados intensivos, respondiendo favorablemente luego de 3 semanas de tratamiento antibiótico con meropenen, vancomicina, retiro de inmunosupresores, ganciclovir, caspofungina, y metilprednisolona. Cursó durante toda su complicación con función renal normal. En Perú no se ha descrito algún caso de síndrome hemofagocítico secundario a infección por Citomegalovirus en un paciente trasplantado renal, por lo que consideramos importante su difusión. Es importante la sospecha precoz de esta patología, ya que la mortalidad es alta llegando al 50% y la evolución depende de un tratamiento adecuado y temprano, tal como sucedió con nuestra paciente. (AU)


We report the case of a 60-year-old female renal transplant patient who presented with an hemophagocytic syndrome due to cytomegalovirus infection. Clinical presentation was non-specific with fever, bicytopenia, high ferritin levels, visceromegaly and hemophagocytosis documented in a bone marrow aspiration. The patient progressed to septic shock for which was transferred to the ICU where she recovered uneventfully after 3 weeks of treatment that included meropenem, vancomycin, suspension of immunosuppressive drugs, ganciclovir, casponfungin and methylprednisolone. Renal function was not altered throughout. This is the first report of this condition in Peru. Early suspicion is paramount as mortality is high and prognosis depends on early initiation of treatment as in this patient. (AU)


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Peru , Transplante de Rim , Infecções por Citomegalovirus , Linfo-Histiocitose Hemofagocítica
11.
Acta bioquím. clín. latinoam ; 51(1): 123-131, mar. 2017. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-886106

RESUMO

La linfohistiocitosis hemofagocítica (HLH) es un síndrome clínico de hiperinflamación que se caracteriza por ser una respuesta inmune altamente estimulada pero inefectiva. En la HLH primaria se encuentran alterados el proceso de exocitosis de gránulos citotóxicos o los efectores que se encuentran en éstos, también existe afección de la activación de las células citotóxicas. Durante la exocitosis existe disfunción en la fase de transporte y maduración vesicular, en la regulación del proceso de docking y priming o en los complejos v-SNARE y t-SNARE. La conexión entre la célula citotóxica y célula diana se compromete si se afecta la proteína efectora perforina. SAP y XIAP se relacionan con la activación de las células inmunitarias. Aunque actualmente se conoce más de las moléculas que participan en la citotoxicidad, existe redundancia en las funciones de estas proteínas y aún quedan funciones que no han sido dilucidadas en dichos procesos.


Hemophagocytic lymphohistiocytosis (HLH) is a clinical syndrome of hyperinflammation, in which the immune response is highly stimulated but it is ineffective. In primary HLH, the exocytosis process of cytotoxic granules or the effector proteins contained there are altered and the activation process of cytotoxic cells could be affected as well. During exocytosis there is dysfunction in vesicle maturation or translocation, in regulator proteins of the docking and priming process, or in v-SNARE and t-SNARE complexes. Connection between the cytotoxic cell and the target cell may be compromised if perforin effector protein is affected. SAP and XIAP have a role in the activation of immune cells. Though there is currently much known about the molecules participating in cytotoxicity, there is redundancy in protein functions involved in primary HLH, and there are some functions of these proteins that are still unknown.


A linfohistiocitose hemofagocítica (HLH) é uma síndrome clínica de hiperinflamação caracterizada por uma resposta imune que, apesar de ser altamente estimulada, é ineficaz. Na HLH primária, o processo de exocitose de grânulos citotóxicos, ou os efetores contidos neles, encontram-se alterados, também existe afecção na ativação das células citotóxicas. Existe disfunção na fase de transporte e amadurecimento vesicular, na regulação do processo de docking e priming, ou nos complexos v-SNARE e t-SNARE durante a exocitose. Caso a proteína efetora perforina estiver afetada, a conexão entre a célula citotóxica e a célula alvo está comprometida. SAP e XIAP estão relacionadas com a ativação das células imunitárias. Embora atualmente haja mais conhecimento a respeito das moléculas envolvidas na citotoxicidade, existe redundância nas funções destas proteínas. Contudo, ainda existem funções naqueles processos que não têm sido elucidadas até hoje.


Assuntos
Humanos , Animais , Subpopulações de Linfócitos/metabolismo , Linfo-Histiocitose Hemofagocítica , Linfo-Histiocitose Hemofagocítica/imunologia , Citotoxinas , Exocitose/fisiologia , Células Matadoras Naturais
12.
Braz. j. med. biol. res ; 50(4): e5727, 2017. tab, graf
Artigo em Inglês | LILACS | ID: biblio-839284

RESUMO

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous high fever, hypopigmentation of the skin, enlarged lymph nodes, hepatosplenomegaly and lung infection. He was diagnosed with CHS by gene sequencing, and had entered the accelerated phase. After 8 weeks of therapy, the boy had remission and was prepared for allogenic stem cell transplantation.


Assuntos
Humanos , Masculino , Lactente , Síndrome de Chediak-Higashi/tratamento farmacológico , Síndrome de Chediak-Higashi/genética , Mutação da Fase de Leitura , Síndrome de Chediak-Higashi/patologia , Diagnóstico Tardio , Cabelo/patologia , Hipopigmentação/genética , Hipopigmentação/patologia , Linfo-Histiocitose Hemofagocítica/genética , Pneumonia/diagnóstico por imagem , Pneumonia/genética , Pele/patologia , Resultado do Tratamento
13.
Arch. argent. pediatr ; 114(5): e357-e361, oct. 2016. ilus, tab
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-838283

RESUMO

El síndrome hemofagocítico secundario es infrecuente en pediatría y, más aun, asociado a tuberculosis. Presentamos el caso de una paciente con síndrome de inmunodeficiencia adquirida, tuberculosis diseminada y síndrome hemofagocítico. Niña de 8 años, condiagnóstico de síndrome deinmunodeficiencia adquirida, que se internó por fiebre, vómitos y dolor abdominal. Presentaba distensión abdominal, deshidratación, taquipnea, rales subcrepitantes y sibilancias en ambos pulmones, anemia, plaquetopenia y alteración de la coagulación. Recibió antibióticos de amplio espectro y se realizó una laparotomía exploradora con apendicectomia y biopsia ganglionar. A las 72 horas, presentó convulsión tónico clónica, deterioro del sensorio, fiebre, hipoxemia, hepatoesplenomegalia, ascitis y edema periférico. Presentaba bicitopenia, hiperferritinemia y examen microscópico de médula ósea con hemofagocitosis. Recibió gammaglobulina intravenosa, corticoides y transfusiones sanguíneas. Se aisló Mycobacterium tuberculosis del aspirado gástrico, médula ósea y biopsia ganglionar abdominal. Se trató con isoniacida, rifampicina, estreptomicina y etambutol, y presentó franca mejoría.


The secondary hemophagocytic syndrome is rare in children and even rarer associated with tuberculosis. e report the case of a patient with acquired immunodeficiency syndrome, disseminated tuberculosis and hemophagocytic syndrome. An 8-year-old girl, diagnosed with acquired immunodeficiency syndrome, was admitted due to fever, vomiting and abdominal pain. She presented abdominal distension, dehydration, tachypnea, crackles and wheezing in both lungs, anemia, thrombocytopenia and coagulopathy. She received broad-spectrum antibiotics and exploratory laparotomy was performed with appendectomy and lymph node biopsy. After 72 hours the patient presented tonic clonic seizure, impaired sensory, fever, hypoxemia, hepatosplenomegaly, ascites and peripheral edema. She developed bicytopenia, hyperferritinemia and bone marrow microscopic examination with hemophagocytosis. She received intravenous gammaglobulin, steroids and blood transfusions. Mycobacterium tuberculosis was cultured in gastric aspirate, bone marrow and abdominal lymph node biopsy. She was treated with isoniazid, rifampicin, streptomycin and ethambutol, showing marked improvement.


Assuntos
Humanos , Feminino , Criança , Tuberculose/complicações , Síndrome de Imunodeficiência Adquirida/complicações , Linfo-Histiocitose Hemofagocítica/etiologia
14.
Rev. méd. hered ; 27(2): 100-105, abr.-jun. 2016. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-982863

RESUMO

Síndrome hemofagocítico (SH) es un cuadro sistémico severo usualmente fatal, reportado como causa secundariaen adultos. Histoplasmosis ha sido descrita como una de las causas, siempre en pacientes con inmunosupresión. Sepresenta el caso de un paciente varón natural de Huánuco con historia de tos y expectoración de dos meses e infiltradopulmonar intersticial y parenquimal basal derecho con adenopatía mediastinal. Ingresó con fiebre, pancitopenia,alteración de pruebas hepáticas y pruebas de coagulación que cumplía criterios de SH. En el aspirado de médulaósea se observaron inclusiones intracitoplasmáticas en los macrófagos compatibles con Histoplasma capsulatum.La serología para HTLV-1 fue positiva por lo que se analiza el rol de este virus como agente inmunosupresor quecondiciona SH secundario a histoplasmosis diseminada.


The hemophagocytic syndrome (HS) is a severe systemic illness ultimately fatal associated with underlying conditions. Histoplasmosis has been associated with HS in immunosuppressed patients. We present the case of a male patient from Huanuco with a 2-month history of productive cough and presence of interstitial pulmonary infiltrates, and consolidation in the right lower lobe associated with mediastinal lymphadenopathies on the chest x-ray. The patient presented with fever, pancytopenia and abnormalities in the liver and coagulation tests fulfilling criteria for HS. A bone marrow aspiration showed intracytoplasmic structures within the macrophages compatible with Histoplasma capsulatum. Serology for HTLV-1 was positive. We analyzed the role of HTLV-1 inducing immunosuppression leading to the development of disseminated histoplasmosis and HS.


Assuntos
Masculino , Humanos , Pessoa de Meia-Idade , Histoplasmose , Vírus Linfotrópico T Tipo 1 Humano , Linfo-Histiocitose Hemofagocítica
15.
Biomédica (Bogotá) ; 36(supl.1): 9-14, abr. 2016. ilus, graf, tab
Artigo em Espanhol | LILACS | ID: lil-783516

RESUMO

La linfohistiocitosis hemofagocítica es un síndrome poco frecuente que resulta de una activación incontrolada de los macrófagos y linfocitos, la cual compromete múltiples órganos y es potencialmente fatal sin el tratamiento oportuno. El síndrome puede ser de origen hereditario o secundario a procesos infecciosos, neoplásicos o autoinmunitarios. Se presenta el caso de un paciente con HIV/sida que desarrolló linfohistiocitosis hemofagocítica y coagulación intravascular diseminada asociadas a histoplasmosis, y que fue exitosamente tratado con anfotericina B, esteroides y tratamiento dialítico transitorio.


Haemophagocytic lymphohistiocytosis is an uncommon syndrome that results from an uncontrolled activation of macrophages and lymphocytes resulting in the compromise of multiple organs that is potentially fatal without timely treatment. It can be hereditary or a secondary result of infectious processes, neoplasms or autoimmune conditions. We present the case of a patient with HIV/AIDS who developed hemophagocytic lymphohistiocytosis as well as disseminated intravascular coagulation associated with histoplasmosis and who was successfully treated with amphotericin B, steroids and transitory dialytic support.


Assuntos
Linfo-Histiocitose Hemofagocítica , Síndrome de Imunodeficiência Adquirida , Coagulação Intravascular Disseminada , Histoplasmose
16.
Clinics ; 71(4): 205-209, Apr. 2016. tab
Artigo em Inglês | LILACS | ID: lil-781428

RESUMO

OBJECTIVE: Hemophagocytic lymphohistiocytosis in adults is largely underdiagnosed. To improve the rate and accuracy of diagnosis in adults, the clinical and laboratory characteristics of hemophagocytic lymphohistiocytosis were analyzed in and compared between adults and children in a Chinese cohort. METHOD: Data from 50 hemophagocytic lymphohistiocytosis patients, including 34 adults and 16 children who fulfilled the 2004 hemophagocytic lymphohistiocytosis diagnostic criteria, were collected and analyzed. RESULTS: 1. Etiological factors: The proportion of Epstein-Barr virus infection was lower in adults compared with children, whereas fungal infection and natural killer/T cell lymphoma were more frequent in adults (P<0.05). 2. Clinical manifestations and laboratory findings: Over 90% of adults and pediatric patients presented with fever, thrombocytopenia and high serum ferritin levels. However, in adults, the proportions of hepatomegaly, splenomegaly and jaundice were much lower (P<0.01) than in children, and serous cavity effusion was more frequent in adult patients (P<0.05). More children had hemoglobin <90 g/L, total bilirubin >19 mmol/L and lactate dehydrogenase >500 U/L compared with adults (P<0.05). 3. The time interval from the onset of symptoms to clinical diagnosis was significantly shorter in pediatric patients than in adults (P<0.05). CONCLUSIONS: Certain clinical features were different between the two groups. The less characteristic clinical presentation of hemophagocytic lymphohistiocytosis in adults may make the disease more difficult to diagnose. Our findings suggest that hemophagocytic lymphohistiocytosis should be considered when an adult patient presents with the above-mentioned symptoms.


Assuntos
Humanos , Masculino , Feminino , Lactente , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Linfo-Histiocitose Hemofagocítica/diagnóstico , Esplenomegalia/epidemiologia , China/epidemiologia , Fatores Etários , Infecções por Vírus Epstein-Barr/complicações , Infecções por Vírus Epstein-Barr/diagnóstico , Quimioterapia Combinada , Linfo-Histiocitose Hemofagocítica/etiologia , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Hepatomegalia/epidemiologia
17.
Rev. Soc. Bras. Clín. Méd ; 14(4): 225-229, 2016.
Artigo em Português | LILACS | ID: biblio-827322

RESUMO

A linfo-histiocitose hematofagocítica é uma síndrome pouco comum, caracterizada por descontrolada ativação e proliferação imunopatológica, levando a evidências clínicas e laboratoriais de inflamação extrema. Pode ser causada primariamente por mutações genéticas (linfo-histiocitose hematofagocítica familiar) ou secundariamente, por uma condição esporádica (linfo--histiocitose hematofagocítica adquirida), como infecções e malignidades.O objetivo deste trabalho foi chamar a atenção para a hinfo-histiocitose hematofagocítica em sua forma secundária (adquirida), com discussão de relato de caso e breve revisão da literatura. Em razão da forma secundária da linfo-histiocitose hematofagocítica ser rara e letal, pouco difundida no meio médico-acadêmico, ter apresentação variável e possuir testes que exigem tempo necessário para o diagnóstico, ela constitui desafio para a realização do diagnóstico precoce e do pronto início da imunoquimioterapia necessária à sobrevivência. O tratamento é complicado por curso clínico dinâmico, alto risco de morbidade e recorrência da doença. O prognóstico geralmente é muito ruim, com evolução potencialmente letal em curto período de tempo se não tratada.


Hemophagocytic Lymphohistiocytosis (HLH) is an uncommon syndrome, characterized by uncontrolled immunopathologic activation and proliferation, leading to clinical and laboratory evidence of severe inflammation. It can be primarily caused by genetic mutations (familial HLH), or secondarily, by a sporadic condition (acquired HLH), such as an infection or malignancy. The purpose of the study is to draw the attention to hematophagocytic Lymphohistiocytosis in its secondary (acquired) form, discussing a case report and briefly reviewing the literature. Because the secondary form of hematophagocytic lymphohistiocytosis is rare and lethal, and poorly widespread in the medical-academic area, with variable appearance, and requiring time-consuming diagnostic tests, it represents a challenge for getting an early diagnosis, and immediately starting immunochemotherapy necessary for survival. Treatment is complicated by the dynamic clinical course, high morbidity risk and recurrence. The prognosis is generally very poor, with potentially fatal outcomes in short time if not treated.


Assuntos
Humanos , Feminino , Idoso , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Linfo-Histiocitose Hemofagocítica/terapia , Ferritinas , Linfo-Histiocitose Hemofagocítica/sangue , Prognóstico
18.
Rev. méd. Chile ; 143(9): 1172-1178, set. 2015. tab
Artigo em Espanhol | LILACS | ID: lil-762688

RESUMO

Hemophagocytic syndrome is a severe condition of excessive immune activation that has a high mortality in the absence of treatment. The syndrome is classified as primary if associated with congenital or hereditary problems, or secondary/acquired if associated with infectious, autoimmune or oncology diseases. We report four adult cases of the syndrome, one with viral, two with autoimmune and one with idiopathic causes who were successfully treated with HLH 94-04 chemotherapy protocol. Our experience shows that a high index of suspicion, early diagnosis and an opportune therapy are essential in the treatment of this disease.


Assuntos
Adulto , Feminino , Humanos , Masculino , Adulto Jovem , Ciclosporina/uso terapêutico , Dexametasona/uso terapêutico , Etoposídeo/uso terapêutico , Imunossupressores/uso terapêutico , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Metotrexato/uso terapêutico , Quimioterapia Combinada/métodos , Diagnóstico Precoce , Ferritinas/sangue , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/fisiopatologia
19.
Rev. gastroenterol. Perú ; 35(3): 256-257, July 2015.
Artigo em Espanhol | LILACS | ID: lil-790101

RESUMO

La linfohistiocitosis hemofagocítica es una causa rara de falla hepática aguda que requiere una alta sospecha clínica para llegar al diagnóstico y evitar desenlaces fatales. Se presenta el caso de una paciente de 13 años con fiebre, anasarca, ictericia, linfadenopatía y encefalopatía. Análisis de laboratorio mostraron anemia, trombocitopenia, hiperbilirrubinemia, hiperferritinemia, INR elevado, y fenómeno hemofagocítico en líquido ascítico centrifugado. La biopsia de hueso reveló linfoma de Hodgkin tipo celularidad mixta. Este reporte discute los criterios diagnósticos, etiología y manejo de la linfohistocitosis hemofagocítica, así como su asociación con falla hepática aguda...


Hemophagocytic lymphohistiocytosis is a rare cause of acute liver failure. It requires a high level of clinical suspicion to reach the diagnosis and avoid fatal outcomes. The case of a 13-year old patient with fever, anasarca, jaundice, lymphadenopathy and encephalopathy is presented. Laboratory studies showed anemia, thrombocytopenia, hyperbilirubinemia, hyperferritinemia, elevated INR, and hemophagocytic phenomenon in centrifugated ascitic fluid. Bone biopsy showed mixed cellularity Hodgkin lymphoma. This report discusses diagnostic criteria, etiology and management of hemophagocytic limphohistocytosis, as well as its association with acute liver failure...


Assuntos
Humanos , Adolescente , Feminino , Doença de Hodgkin , Falência Hepática , Linfo-Histiocitose Hemofagocítica
20.
Rev. bras. hematol. hemoter ; 36(6): 437-441, Nov-Dec/2014. tab
Artigo em Inglês | LILACS | ID: lil-731236

RESUMO

Objective: To describe the clinical and laboratory presentation of hemophagocytic lymphohistiocytosis in children treated at a referral institution. Methods: A retrospective descriptive study was carried out of seven children diagnosed with hemophagocytic lymphohistiocytosis between 2010 and 2012. The criteria for diagnosis were those proposed by the Histiocyte Society. When indicated, immunochemotherapy was prescribed according to the HLH94 and HLH2004 protocols of the Histiocyte Society. Results: The patients' ages at diagnosis ranged from one month to nine years. All patients had splenomegaly, fever, anemia, thrombocytopenia, hyperferritinemia and hypertriglyceridemia. Bone marrow hemophagocytosis was detected in six patients. In six cases, infectious diseases triggered the syndrome. In two cases, associated with visceral leishmaniasis, remission was achieved after treatment of the underlying infection. Three patients, who had Epstein–Barr-related hemophagocytic lymphohistiocytosis, required treatment with immunochemotherapy. They are alive and in remission; one patient had symptoms of juvenile rheumatoid arthritis and another, who was suspected of having primary hemophagocytic lymphohistiocytosis, entered into remission after bone marrow transplantation. Two deaths (28.6%) occurred in patients with suspected primary hemophagocytic lymphohistiocytosis; one whose clinical picture was triggered by cytomegalovirus infection did not respond to immunochemotherapy and the other died before any specific treatment was provided. Conclusion: As reported before, hemophagocytic lymphohistiocytosis has a multifaceted presentation with nonspecific signs and symptoms. In secondary forms, remission may be achieved by treating the underlying disease. In the primary forms, remission may be achieved with immunochemotherapy, but bone marrow transplantation is required for cure...


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Transplante de Medula Óssea , Leishmaniose Visceral , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/terapia
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