Haematological adverse effects associated with olanzapine in adolescents with anorexia nervosa: Three case reports.

OBJECTIVES: To describe haematological adverse effects in adolescents with anorexia nervosa who are taking olanzapine. METHODS: Case series report. CASE REPORT: The reported cases (two female patients and one male) were found to have blood test abnormalities after starting olanzapine and to rapidly recover their platelet and neutrophil values after the drug was discontinued. Low haemoglobin values persisted longer than observed in other series. These abnormalities became more noticeable when the dose of olanzapine was increased to 5 mg/day (initial dose 2.5 mg/day). It should be noted that two of the patients already had values indicative of mild neutropenia before they started the antipsychotic drug, and that these worsened as they continued taking the drug. In one of the patients there was only a decrease in neutrophil values, as well as mild anaemia. CONCLUSIONS: This first case series of haematological abnormalities in adolescents with anorexia nervosa who are taking olanzapine found values corresponding to pancytopenia in two of the three cases reported. It would be worthwhile to consider heightening haematological surveillance in this population when starting treatment with olanzapine and rethinking our knowledge regarding the frequency of these side effects.

[Pancytopenia associated to acute myeloid leukemia: a case report of aleukemic leukemia]. / Pancitopenia asociada a leucemia mieloide aguda: reporte de un caso de leucemia aleucémica.

Background: Acute myeloid leukemia (AML) is characterized by the presence of ≥ 20% myeloblasts in peripheral blood or bone marrow, as well as specific cytogenetic alterations. It can appear as a de novo disease or be associated with other hematologic diseases, which is why the clinical presentation is heterogeneous. Pancytopenia as a manifestation of aleukemic leukemia is a rare entity. Here, we described a case of AML that presented with pancytopenia as the only manifestation in a secondary care center. Clinical case: 72-year-old man, hospitalized due to pancytopenia, with no history of hematological diseases, asymptomatic, without hepatosplenomegaly or bleeding. Flow cytometry revealed pancytopenia without blasts in peripheral blood. Secondary causes of pancytopenia as infections, splenomegaly and nutritional deficiencies where ruled out. Bone marrow aspirate showed infiltration by 45% of myeloblasts and myelodysplasia. Immunophenotype was compatible with AML. Patient was sent to the Hematology Department at Centro Médico Nacional Siglo XXI (21st Century National Medical Center) to start chemotherapy. Conclusions: AML that is presented as pancytopenia should be considered in the evaluation of marrow failure syndrome. In the context of our hospital, morphological findings remains an essential tool for early diagnosis, since more refined studies such as immunophenotyping and cytogenetic testing are unreachable in a timely manner.

Introducción: La leucemia mieloide aguda (LMA) se caracteriza por presentar ≥ 20% de mieloblastos en sangre periférica o médula ósea, así como alteraciones citogenéticas específicas. Surge como enfermedad de novo o asociada a trastornos hematológicos, por lo que la presentación clínica es heterogénea. La presentación como pancitopenia (leucemia aleucémica) es rara. El objetivo de este trabajo es presentar un caso de LMA que cursó con pancitopenia como única manifestación clínica en un hospital de segundo nivel de atención. Caso clínico: hombre de 72 años, hospitalizado por hallazgo de pancitopenia, sin historial de enfermedades hematológicas, asintomático, sin adenomegalias ni hemorragia. La citometría hemática documentó pancitopenia sin blastos en sangre periférica. Se descartaron causas secundarias como infección, esplenomegalia y deficiencias nutricionales. En el aspirado de médula ósea se observó 45% de mieloblastos y mielodisplasia. El inmunofenotipo fue compatible con LMA. El paciente fue referido a Hematología del Centro Médico Nacional Siglo XXI para iniciar quimioterapia. Conclusiones: la LMA que se presenta como pancitopenia debe ser tomada en cuenta en el protocolo diagnóstico de síndrome de falla medular. En el contexto de nuestro hospital, la morfología hematológica sigue siendo una herramienta indispensable para el diagnóstico temprano de este tipo de enfermedades, ya que estudios más sofisticados, como el inmunofenotipo y la citogenética, no se encuentran disponibles de forma oportuna.

Nonsteroidal anti-inflammatory drugs as a targeted therapy for bone marrow failure in Ghosal hematodiaphyseal dysplasia.

Advances in genomic diagnostics hold promise for improved care of rare hematologic diseases. Here, we describe a novel targeted therapeutic approach for Ghosal hematodiaphyseal dysplasia, an autosomal recessive disease characterized by severe normocytic anemia and bone abnormalities due to loss-of-function mutations in thromboxane A synthase 1 (TBXAS1). TBXAS1 metabolizes prostaglandin H2 (PGH2), a cyclooxygenase (COX) product of arachidonic acid, into thromboxane A2. Loss-of-function mutations in TBXAS result in an increase in PGH2 availability for other PG synthases. The current treatment for Ghosal hematodiaphyseal dysplasia syndrome consists of corticosteroids. We hypothesize that nonsteroidal anti-inflammatory drugs (NSAIDs), which inhibit COX-1 and COX-2, could ameliorate the effects of TBXAS1 loss and improve hematologic function by reducing prostaglandin formation. We treated 2 patients with Ghosal hematodiaphyseal dysplasia syndrome, an adult and a child, with standard doses of NSAIDs (aspirin or ibuprofen). Both patients had rapid improvements concerning hematologic parameters and inflammatory markers without adverse events. Mass spectrometry analysis demonstrated that urinary PG metabolites were increased along with proinflammatory lipoxygenase (LOX) products 5-hydroxyeicosatetraenoic acid and leukotriene E4. Our data show that NSAIDs at standard doses surprisingly reduced both COX and LOX products, leading to the resolution of cytopenia, and should be considered for first-line treatment for Ghosal hematodiaphyseal dysplasia syndrome.

Malaria cerebral con pancitopenia por plasmodium vivax en la amazonía peruana: reporte de caso / Plasmodium vivax cerebral malaria with pancytopenia in the peruvian amazon: case report

RESUMEN Plasmodium vivax es la especie más común en la Amazonía peruana y ocasiona el 81% del total de casos de malaria. Presentamos el caso de un paciente adulto varón con malaria cerebral por Plasmodium vivax, que inicia con malestar general y fiebre, luego presenta convulsiones más de dos veces al día con pérdida de consciencia y limitación funcional motora. Se le realiza gota gruesa donde se observa trofozoítos de Plasmodium vivax y depresión de las tres series sanguíneas. Se inicia tratamiento con artesunato y clindamicina por cinco días, se le transfunde un paquete globular, y continua con primaquina por siete días. El paciente muestra mejoría clínica con secuela neurológica en extremidad inferior izquierda.

ABSTRACT Plasmodium vivax causes 81% of all malaria cases and is the most common species in the Peruvian Amazon. We present the case of a male patient with cerebral malaria caused by Plasmodium vivax, who had general malaise and fever, and then presented seizures more than twice a day with loss of consciousness and motor functional limitation. Plasmodium vivax trophozoites were detected by thick blood smear, besides, we also observed low counts of all three blood cell types. Treatment began with artesunate and clindamycin for five days, then one unit of packed red blood cells was transfused; treatment continued with primaquine for seven days. The patient showed clinical improvement with neurological sequelae in one lower limb.

Hipoplasia de medula óssea: manifestação atípica do hipertireoidismo / Bone marrow hypoplasia: atypical manifestation of hyperthyroidism / Hipoplasia de la médula ósea: manifestación atípica del hipertiroidismo

Alterações hematológicas, como anemia ou pancitopenia, podem ser manifestações atípicas do hipertireoidismo. Embora a maioria dos casos de pancitopenia na doença de Graves seja decorrente do uso de drogas antitireoidianas ­ tionamidas ­, ela também pode estar associada ao quadro de hipertireoidismo não tratado e, assim, se manifestar como uma complicação grave. Este estudo tem como objetivo relatar o caso de uma paciente portadora de hipertireoidismo que evoluiu durante o internamento por pancitopenia secundária à doença primária. As informações foram obtidas por meio da revisão do prontuário, entrevista com a paciente e revisão da literatura. Trata-se de uma paciente do sexo feminino, de 39 anos, internada em um hospital de Salvador por apresentar um quadro de edema em membros inferiores que evoluiu progressivamente para anasarca por 45 dias. Associados ao quadro, a paciente apresentava perda ponderal, dispneia paroxística noturna, taquicardia, sudorese e calafrios, além dos exames laboratoriais terem apresentado pancitopenia. O caso relatado demonstra uma manifestação atípica e rara do hipertireoidismo, que melhorou após o início do tratamento e do estado de eutireoidismo.

Hematological changes such as anemia or pancytopenia can occur as atypical manifestations of hyperthyroidism. Although most cases of pancytopenia in Graves' disease are due to the use of antithyroid drugs (thionamides), it can also be associated with untreated hyperthyroidism, thus manifesting as a serious complication. This study aims to report the case of a 39-year-old hyperthyroid female patient who developed pancytopenia during hospitalization. Data were collected by means of the medical record, an interview conducted with the patient, and literature review. The patient was admitted to a hospital in Salvador presenting lower extremity edema that progressively evolved to anasarca within 45 days prior to the interview. She also presented weight loss, paroxysmal nocturnal dyspnea, tachycardia, sweating, chills, and laboratory test results for pancytopenia. The case reported here demonstrates an atypical and rare manifestation of hyperthyroidism that improved after the beginning of the treatment, reaching the euthyroid state.

Los cambios hematológicos como anemia o pancitopenia pueden ocurrir como manifestaciones atípicas de hipertiroidismo. Aunque la mayoría de los casos de pancitopenia en la enfermedad de Graves se deben al uso de fármacos antitiroideos (tionamidas), también se puede asociar a um hipertiroidismo no tratado y, por tanto, puede manifestarse como una complicación grave. Este estudio tiene como objetivo reportar el caso de una paciente con hipertiroidismo que desarrolló durante la hospitalización pancitopenia secundaria a la enfermedad primaria. La información se obtuvo revisando la historia clínica, entrevistando a la paciente y revisando la literatura. Se trata de una paciente de 39 años ingresada en un hospital de Salvador por presentar edema en miembros inferiores, evolucionando progresivamente a anasarca durante 45 días. Asociado a la afección, presentaba pérdida de peso, disnea paroxística nocturna, taquicardia, sudoración, escalofríos y análisis de laboratorio que mostraban pancitopenia. El caso aquí reportado demuestra una manifestación atípica y rara de hipertiroidismo, que evolucionó luego del inicio del tratamiento y del estado de eutiroidismo.

Pancytopenia as an initial manifestation of prostate cancer: a case report.

BACKGROUND: Prostate adenocarcinoma is the most frequent cancer type among men, followed by skin cancer. Patients with prostate cancer usually present lower urinary tract symptoms due to tumor involvement. Bone marrow invasion is associated with prostate cancer metastasis and is common if blastic lesions in bones are present but is very rare without a large bone involvement and uncommon as initial presentation. CASE PRESENTATION: We present a case of an 86-year-old Caucasian man with bone marrow invasion of prostate cancer without urological or bone-related symptoms and without prostate nodules. His findings were dyspnea, fatigue, and tachycardia. We detail the complete investigation of the case until we found the accurate diagnosis. The patient started treatment, but he had no response and so the oncology team started palliative care. CONCLUSION: Bone marrow invasion as an initial manifestation of prostate cancer is not common, especially if no prostatic lesions are found. This report is important to provide additional information about prostate cancer management.

Pancitopenia induzida em um cão pelo uso concomitante de fármacos mielotóxicos / Pancytopenia in a dog induced by concomitant use of myelotoxic drugs

Background: The indiscriminate use of drugs is an issue in Veterinary Medicine, as it has serious consequences for theanimals. Many drugs are myelotoxic and cause a decrease in the production of blood cells, which may be irreversible insome cases. The present work reports a case of pancytopenia induced by the concomitant use of myelotoxic drugs (estrogen, metamizole and phenobarbital) in a dog and describes findings on myelotoxicity, hematological alterations andtreatment success.Case: A 7-year-old Lhasa Apso bitch was referred to the Veterinary Hospital of Federal University of Paraná, Curitibacampus, with hematuria and a history of treatment with phenobarbital [2 mg/kg twice a day (bis in die, BID)], metamizole[25 mg/kg 3 times a day (ter in die, TID)], and use of estrogen hormone (estradiol cypionate). At physical examination, theanimal was normohydrated and exhibited normal palpable lymph nodes, pale mucous membranes, galactorrhea, and a bodytemperature of 36°C. A complete blood count including reticulocyte count and a total plasma protein (TPP) exam wererequested. The results revealed pancytopenia (18% hematocrit, 1,400 total leucocytes/µL, and 22,000 reticulocytes/µL).An abdominal ultrasound exam did not detect any relevant alterations. In view of the results obtained, medullary aplasiawas suspected. A bone marrow aspiration was performed. A myelogram revealed a decrease in cellularity (erythrocyticand granulocytic hypoplasia), with presence of rare erythroid and granulocytic precursors. The diagnosis was medullaryaplasia. The animal was treated, and the evolution of the hematological alterations was monitored. The treatment consistedof administration of erythropoietin (100UI/kg subcutaneously every 48 h), prednisone (2 mg/kg BID), Leucogen (3 mg/kg BID), interferon (0.2 IU/kg BID) and Eritrós Dog Tabs [1 tablet once a day (semel in die, SID)]. After 5 days of treatment, the...(AU)

Quality of life and changes in the social dimension of hematopoietic stem cell transplants recipients.

OBJECTIVES: to assess/correlate health-related quality of life with the social dimension of hematopoietic, autologous and allogeneic stem cell transplant patients in the three years post-transplant. METHODS: longitudinal, observational study with 55 patients, in a reference hospital in Latin America, from September 2013 to February 2019, using the Quality of Life Questionnaire-Core and Functional Assessment Cancer Therapy Bone Marrow Transplantation. RESULTS: A total of 71% underwent allogeneic transplantation. The social dimension had low averages since the baseline stage (55, 21) and low scores (56) for quality of life in pancytopenia. There was a significant positive correlation between social dimension, quality of life in pancytopenia (p<0.01) and follow-up after hospital discharge (p<0.00). There is a significant difference (p<0.00) throughout the stages, however, not in terms of the type of transplant (p>0.36/0.86). CONCLUSIONS: patients with better assessments in the social dimension have a better quality of life. Interventions focusing on the multidimensionality of the quality of life construct are necessary.

Pregnancy-associated aplastic anemia: a case-based review.

Introduction: Pregnancy-associated aplastic anemia (pAA) occurs when aplastic anemia (AA) is diagnosed for the first time during pregnancy and it is a rare but serious condition leading to severe maternal and fetal complications. It is unknown whether pregnancy triggers bone marrow failure or if this state is unrelated to the pathogenesis of pAA.Areas covered: In this review, three new cases of pAA are presented and its controversial etiologic relationship with pregnancy, its atypical presentation, and management are also discussed. Furthermore, a literature review of pAA cases between 1975 and 2020 was performed in PubMed, accessed via the National Library of Medicine PubMed interface. Keywords included 'aplastic anemia' AND 'pregnancy'. We found 54 cases reported in the literature with a clear diagnosis of pAA.Expert opinion: The diagnosis of pAA is challenging since pregnancy is associated with physiologic hematological changes in the complete blood count which can mask the disease. Meticulous monitoring and adequate support therapy given by a trained multidisciplinary team have the potential to improve outcomes for women and their neonates. All women should receive frequent assessments to optimize their care during pregnancy and after delivery, definitive treatment should be offered.

Pancitopenia induzida em um cão pelo uso concomitante de fármacos mielotóxicos / Pancytopenia in a dog induced by concomitant use of myelotoxic drugs

Background: The indiscriminate use of drugs is an issue in Veterinary Medicine, as it has serious consequences for theanimals. Many drugs are myelotoxic and cause a decrease in the production of blood cells, which may be irreversible insome cases. The present work reports a case of pancytopenia induced by the concomitant use of myelotoxic drugs (estrogen, metamizole and phenobarbital) in a dog and describes findings on myelotoxicity, hematological alterations andtreatment success.Case: A 7-year-old Lhasa Apso bitch was referred to the Veterinary Hospital of Federal University of Paraná, Curitibacampus, with hematuria and a history of treatment with phenobarbital [2 mg/kg twice a day (bis in die, BID)], metamizole[25 mg/kg 3 times a day (ter in die, TID)], and use of estrogen hormone (estradiol cypionate). At physical examination, theanimal was normohydrated and exhibited normal palpable lymph nodes, pale mucous membranes, galactorrhea, and a bodytemperature of 36°C. A complete blood count including reticulocyte count and a total plasma protein (TPP) exam wererequested. The results revealed pancytopenia (18% hematocrit, 1,400 total leucocytes/µL, and 22,000 reticulocytes/µL).An abdominal ultrasound exam did not detect any relevant alterations. In view of the results obtained, medullary aplasiawas suspected. A bone marrow aspiration was performed. A myelogram revealed a decrease in cellularity (erythrocyticand granulocytic hypoplasia), with presence of rare erythroid and granulocytic precursors. The diagnosis was medullaryaplasia. The animal was treated, and the evolution of the hematological alterations was monitored. The treatment consistedof administration of erythropoietin (100UI/kg subcutaneously every 48 h), prednisone (2 mg/kg BID), Leucogen (3 mg/kg BID), interferon (0.2 IU/kg BID) and Eritrós Dog Tabs [1 tablet once a day (semel in die, SID)]. After 5 days of treatment, the...

Quality of life and changes in the social dimension of hematopoietic stem cell transplants recipients / Calidad de vida y cambios en el dominio social de los receptores de trasplantes de células madre hematopoyéticas / Qualidade de vida e alterações no domínio social de transplantados de células-tronco hematopoéticas

ABSTRACT Objectives: to assess/correlate health-related quality of life with the social dimension of hematopoietic, autologous and allogeneic stem cell transplant patients in the three years post-transplant. Methods: longitudinal, observational study with 55 patients, in a reference hospital in Latin America, from September 2013 to February 2019, using the Quality of Life Questionnaire-Core and Functional Assessment Cancer Therapy Bone Marrow Transplantation. Results: A total of 71% underwent allogeneic transplantation. The social dimension had low averages since the baseline stage (55, 21) and low scores (56) for quality of life in pancytopenia. There was a significant positive correlation between social dimension, quality of life in pancytopenia (p<0.01) and follow-up after hospital discharge (p<0.00). There is a significant difference (p<0.00) throughout the stages, however, not in terms of the type of transplant (p>0.36/0.86). Conclusions: patients with better assessments in the social dimension have a better quality of life. Interventions focusing on the multidimensionality of the quality of life construct are necessary.

RESUMEN Objetivo: evaluar/correlacionar la calidad de vida relacionada a la salud con el ámbito social de pacientes trasplantados de células madre hematopoyéticas, autólogas y alogénicas, tres años post trasplante. Métodos: se trata de un estudio longitudinal, observacional, llevado a cabo en un hospital referencial de América Latina con 55 pacientes entre septiembre de 2013 y febrero de 2019, utilizando la Escala de Calidad de Vida-Núcleo y la Evaluación funcional de la terapia del cáncer: trasplante de médula ósea. Resultados: el 71% realizó un trasplante alogénico; el ámbito social presentó promedios bajos desde la etapa inicial (55, 21) y puntuaciones bajas (56) en cuanto a la calidad de vida en la pancitopenia. Se observó una correlación positiva significativa entre el ámbito social, la calidad de vida en la pancitopenia (p<0,01) y el seguimiento después del alta hospitalaria (p<0,00). Hubo una diferencia significativa (p<0,00) a lo largo de los estadios, pero no en lo que respecta a la modalidad del trasplante (p>0,36/0,86). Conclusiones: aquellos pacientes con mejor evaluación en el ámbito social presentan mejor calidad de vida. Es necesario realizar intervenciones que se centren en la multidimensionalidad de la construcción de la calidad de vida.

RESUMO Objetivo: avaliar/correlacionar a qualidade de vida relacionada à saúde com o domínio social de pacientes transplantados de células-tronco hematopoéticas, autólogo e alogênico, nos três anos pós-transplante. Métodos: estudo longitudinal, observacional, com 55 pacientes, num hospital referência da América Latina, de setembro de 2013 a fevereiro de 2019, com o Quality of Life Questionnarie-Core e Functional Assessment Cancer Therapy Bone Marrow Transplantation. Resultados: 71% realizaram transplante alogênico. O domínio social apresentou médias baixas desde a etapa basal (55, 21) e escores baixos (56) para a qualidade de vida na pancitopenia. Houve correlação positiva significativa entre domínio social, qualidade de vida na pancitopenia (p<0,01) e acompanhamento após alta hospitalar (p<0,00). Observa-se diferença significativa (p<0,00) ao longo das etapas, porém, não quanto à modalidade de transplante (p>0,36/0,86). Conclusões: pacientes com melhor avaliação no domínio social apresentam melhor qualidade de vida. Intervenções com foco na multidimensionalidade do constructo qualidade de vida são necessárias.

Modulation in the expression of type 1 (CR1/CD35) and type 3 (CR3/CD11b) complement receptors on leukocytes from patients with Visceral leishmaniasis.

Visceral leishmaniasis (VL) is an anthropozoonosis endemic in Brazil. We included 20 patients with confirmed diagnosis of VL and 20 healthy individuals to evaluate the expression levels of complement receptor 1 (CR1)/CD35 and CR3/CD11b on leukocytes in the peripheral blood and determine their correlation with the clinical state of patients. CR1/CD35 expression increased on CD11b+CD35+granulocytes of patients, while CR1/CD35 and CR3/CD11b expression levels increased on CD14+CD11b+CD35+ monocytes. Among patients, those with severe clinical state had higher expression of CR3/CD11b on CD14+monocytes. The count of CD19+CD35+B lymphocytes reduced in the blood samples from patients. These observed changes may indicate the modulation in CR1/CD35 and CR3/CD11b complement receptor expressionlevels on granulocyte and monocyte populations in response to Leishmania sp.

Hemophagocytic lymphohistiocytosis as a presentation of inflammatory bowel disease / Linfohistiocitosis hemofagocítica como presentación de la enfermedad inflamatoria intestinal

Abstract Background: Hemophagocytic lymphohistiocytosis (HLH) is considered a medical emergency that should be recognized in patients with fever, splenomegaly, and progressive deterioration of the general condition. Laboratory findings include cytopenia, hypertriglyceridemia, hypofibrinogenemia, and hyperferritinemia. For HLH diagnosis, it is essential, although not mandatory, to perform a bone marrow biopsy. Given its nature, secondary causes of HLH should be sought, mainly infections, hemato-oncological disorders, autoimmune diseases, and auto-inflammatory conditions. Case report: We present the case of a female adolescent who presented with fever and lower gastrointestinal bleeding. Upon admission, acute liver failure and pancytopenia were documented. A bone marrow aspirate was performed, which revealed hemophagocytosis; other tests confirmed HLH diagnosis. During the diagnostic approach, inflammatory bowel disease was diagnosed. The patient received first-line treatment with an adequate response. Conclusions: Inflammatory bowel disease can be considered a cause of secondary HLH, particularly in patients with suggestive symptoms, such as digestive bleeding in the absence of other secondary causes of HLH.

Resumen Introducción: La linfohistiocitosis hemofagocítica (LHH) es considerada una urgencia médica que debe reconocerse en pacientes con deterioro progresivo del estado general, fiebre, pancitopenia y esplenomegalia. Los hallazgos de laboratorio incluyen citopenia, hipertrigliceridemia, hipofibrinogenemia e hiperferritinemia. Para su diagnóstico es importante, aunque no obligatoria, la realización de aspirado de médula ósea. Dada su naturaleza, se deben buscar causas secundarias de LHH, principalmente enfermedades infecciosas, hematooncológicas, autoinmunitarias y autoinflamatorias. Caso clínico: Se presenta el caso de una adolescente que inició con fiebre y sangrado digestivo bajo. A su ingreso, se documentó falla hepática aguda y pancitopenia. Se realizó aspirado de médula ósea y se encontró hemofagocitocis; el resto de los exámenes concluyeron LHH. Durante su abordaje se diagnosticó enfermedad inflamatoria intestinal. La paciente recibió tratamiento de primera línea con adecuada respuesta. Conclusiones: La enfermedad inflamatoria intestinal puede considerarse como una causa secundaria de LHH, en particular en pacientes con clínica sugestiva, como es el sangrado digestivo, en ausencia de otras causas secundarias de LHH.

Hemophagocytic lymphohistiocytosis as a presentation of inflammatory bowel disease.

Background: Hemophagocytic lymphohistiocytosis (HLH) is considered a medical emergency that should be recognized in patients with fever, splenomegaly, and progressive deterioration of the general condition. Laboratory findings include cytopenia, hypertriglyceridemia, hypofibrinogenemia, and hyperferritinemia. For HLH diagnosis, it is essential, although not mandatory, to perform a bone marrow biopsy. Given its nature, secondary causes of HLH should be sought, mainly infections, hemato-oncological disorders, autoimmune diseases, and auto-inflammatory conditions. Case report: We present the case of a female adolescent who presented with fever and lower gastrointestinal bleeding. Upon admission, acute liver failure and pancytopenia were documented. A bone marrow aspirate was performed, which revealed hemophagocytosis; other tests confirmed HLH diagnosis. During the diagnostic approach, inflammatory bowel disease was diagnosed. The patient received first-line treatment with an adequate response. Conclusions: Inflammatory bowel disease can be considered a cause of secondary HLH, particularly in patients with suggestive symptoms, such as digestive bleeding in the absence of other secondary causes of HLH.

Introducción: La linfohistiocitosis hemofagocítica (LHH) es considerada una urgencia médica que debe reconocerse en pacientes con deterioro progresivo del estado general, fiebre, pancitopenia y esplenomegalia. Los hallazgos de laboratorio incluyen citopenia, hipertrigliceridemia, hipofibrinogenemia e hiperferritinemia. Para su diagnóstico es importante, aunque no obligatoria, la realización de aspirado de médula ósea. Dada su naturaleza, se deben buscar causas secundarias de LHH, principalmente enfermedades infecciosas, hematooncológicas, autoinmunitarias y autoinflamatorias. Caso clínico: Se presenta el caso de una adolescente que inició con fiebre y sangrado digestivo bajo. A su ingreso, se documentó falla hepática aguda y pancitopenia. Se realizó aspirado de médula ósea y se encontró hemofagocitocis; el resto de los exámenes concluyeron LHH. Durante su abordaje se diagnosticó enfermedad inflamatoria intestinal. La paciente recibió tratamiento de primera línea con adecuada respuesta. Conclusiones: La enfermedad inflamatoria intestinal puede considerarse como una causa secundaria de LHH, en particular en pacientes con clínica sugestiva, como es el sangrado digestivo, en ausencia de otras causas secundarias de LHH.

Acidemia propiónica: una causa sumamente rara de linfohistiocitosis hemofagocítica en un lactante / Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant

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.

Deficiência de cianocobalamina como causa de pancitopenia: relato de um caso e levantamento de literatura / Cyanocobalamin deficiency as a cause of pancytopenia: case report and survey of literature

Contexto: A pancitopenia é uma condição clínica grave caracterizada pela diminuição simultânea dos níveis séricos dos glóbulos vermelhos, brancos e plaquetários. A sua resolução só ocorre quando tratado o processo etiológico. Descrição do caso: Nesse estudo, relatou-se o caso de um paciente pediátrico, procedente de região carente, que foi trazido ao serviço de referência da região pela mãe com quadro progressivo de queda do estado geral, inapetência, diarreia, náuseas e vômitos. Esses sintomas haviam se iniciado cinco dias antes. No recordatório alimentar, a responsável relatou dieta pobre em alimentos de origem animal e vegetal, tendo, ainda, histórico de internação recente. Ao exame físico, apresentou-se hipocorado, com palidez cutânea, sinais vitais normais e sem demais alterações dignas de nota. Inicialmente, solicitaram-se exames complementares que mostraram pancitopenia associada a leucocitúria. Instituídos sintomáticos e antibioticoterapia de amplo espectro para determinado foco. No sexto dia de internação, o paciente evoluiu com quadro séptico, necessitando de transferência e terapia intensiva. Após estabilização do quadro infeccioso, o paciente retornou à enfermaria do serviço para continuidade do tratamento e investigação etiológica da pancitopenia. Por meio de exames complementares, foi possível identificar que a anemia normocítica e normocrômica se tratava de deficiência de vitamina B12 de apresentação atípica. Discussão: Diante de casos com apresentação atípica associada à pancitopenia, é necessário considerar a possibilidade de deficiência de micronutrientes, por se tratar de uma condição frequente em nosso país. Conclusão: O presente relato de caso pode ser utilizado como alerta a profissionais de saúde, para que considerem a deficiência de cianocobalamina como causa de pancitopenia, principalmente em regiões mais vulneráveis, visto que essa condição pode estar associada a quadros graves e que ameaçam a vida.