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Purtscher-like retinopathy (PLR) is a rare entity related with retinal ischemia due to endothelial dysfunction and embolization. We present a case of a 17-year-old patient who presented with PLR associated with transplant-associated thrombotic microangiopathy. Visual acuity was finger counting at 1 meter in both eyes. Fundoscopy demonstrated peripapillary cotton-wool spots and hypopigmentation in the middle peripheral retina. Both eyes showed signs of macular edema with intraretinal hemorrhages. Optical coherence tomography and fundus fluorescence angiography was performed to support the diagnosis. After systemic treatments and panretinal photocoagulation, the patient's vision improved and the macular edema resolved. [Ophthalmic Surg Lasers Imaging Retina 2024;55:XX-XX.].
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BACKGROUND: Major Histocompatibility Complex Class II (MHC-II) deficiency, a combined immunodeficiency, results from loss of Human Leukocyte Antigen class II expression on antigen-presenting cells. Currently, hematopoietic stem cell transplantation (HSCT) stands as the sole curative approach, though factors influencing patient outcomes remain insufficiently explored. OBJECTIVE: Our aim was to elucidate the clinical, immunological, and genetic profiles associated with MHC-II deficiency and identify prognostic indicators that affect survival rates. METHODS: In this multicenter retrospective analysis, we gathered data from 35 patients diagnosed with MHC-II deficiency across 12 centers in Turkey. We recorded infection histories, gene mutations, immune cell subsets, and surface MHC-II expression on blood cells. We conducted survival analyses to evaluate the impact of various factors on patient outcomes. RESULTS: Predominant symptoms observed were pneumonia (n=29, 82.9%), persistent diarrhea (n=26, 74.3%), and severe infections (n=26, 74.3%). The RFXANK gene mutation (n=9) was the most frequent, followed by mutations in RFX5 (n=8), CIITA (n=4), and RFXAP (n=2) genes. Patients with RFXANK mutations presented with later onset and diagnosis compared to those with RFX5 mutations (p=0.0008 and p=0.0006, respectively), alongside a more significant diagnostic delay (p=0.020). A notable founder effect was observed in 5 patients with a specific RFX5 mutation (c.616G>C). The overall survival rate for patients was 28.6% (n=10), showing a significantly higher proportion in individuals with HSCT (n=8, 80%). Early demise (p=0.006) and higher CD8+ T-cell counts were observed in patients with the RFX5 mutations compared to RFXANK-mutant patients (p=0.006 and p=0.009, respectively). CONCLUSION: The study delineates the genetic and clinical panorama of MHC-II deficiency, emphasizing the prevalence of specific gene mutations such as RFXANK and RFX5. These insights facilitate early diagnosis and prognosis refinement, significantly contributing to the management of MHC-II deficiency.
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BACKGROUND: Data on the risk factors and outcomes for pediatric patients with SARS-CoV-2 infection (COVID-19) following hematopoietic stem cell transplantation (HSCT) are limited. OBJECTIVES: The study aimed to analyze the clinical signs, risk factors, and outcomes for ICU admission and mortality in a large pediatric cohort who underwent allogeneic HSCT prior to COVID-19 infection. METHOD: In this nationwide study, we retrospectively reviewed the data of 184 pediatric HSCT recipients who had COVID-19 between March 2020 and August 2022. RESULTS: The median time from HSCT to COVID-19 infection was 209.0 days (IQR, 111.7-340.8; range, 0-3845 days). The most common clinical manifestation was fever (58.7%). While most patients (78.8%) had asymptomatic/mild disease, the disease severity was moderate in 9.2% and severe and critical in 4.4% and 7.6%, respectively. The overall mortality was 10.9% (n: 20). Deaths were attributable to COVID-19 in nine (4.9%) patients. Multivariate analysis revealed that lower respiratory tract disease (LRTD) (OR, 23.20, p: .001) and lymphopenia at diagnosis (OR, 5.21, p: .006) were risk factors for ICU admission and that HSCT from a mismatched donor (OR, 54.04, p: .028), multisystem inflammatory syndrome in children (MIS-C) (OR, 31.07, p: .003), and LRTD (OR, 10.11, p: .035) were associated with a higher risk for COVID-19-related mortality. CONCLUSION: While COVID-19 is mostly asymptomatic or mild in pediatric transplant recipients, it can cause ICU admission in those with LRTD or lymphopenia at diagnosis and may be more fatal in those who are transplanted from a mismatched donor and those who develop MIS-C or LRTD.
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COVID-19 , Trasplante de Células Madre Hematopoyéticas , Humanos , COVID-19/epidemiología , COVID-19/terapia , COVID-19/mortalidad , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Niño , Masculino , Femenino , Estudios Retrospectivos , Adolescente , Turquía/epidemiología , Preescolar , Factores de Riesgo , SARS-CoV-2 , Lactante , Trasplante Homólogo , Índice de Severidad de la EnfermedadRESUMEN
Hemoglobin (Hb) Hammersmith, formed by serine substitution for phenylalanine at residue 42 in the beta-globin chain, is a very rare variant of unstable hemoglobin with low oxygen affinity. For patients with hemoglobinopathies, it is well-established that hematopoietic stem cell transplantation provides a complete cure, but the literature on its role for those with Hb Hammersmith is limited. A seven-month-old girl who was examined for anemia and splenomegaly was followed up for congenital hemolytic anemia. The patient with visible cyanosis of the lips and whose p50 was low in blood gas was diagnosed with Hb Hammersmith through the DNA sequence analysis. During the follow-up, frequent blood transfusions had to be given due to anemia aggravated by infections. Following a successful hematopoietic stem cell transplant from an HLA-matched sibling, the patient completely recovered from Hb Hammersmith. The case is presented because of its rarity.
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Anemia Hemolítica , Trasplante de Células Madre Hematopoyéticas , Hemoglobinopatías , Hemoglobinas Anormales , Femenino , Humanos , Niño , Lactante , Anemia Hemolítica/genética , Hemoglobinas Anormales/genética , Hemoglobinas Anormales/análisis , Hemoglobinopatías/genética , Hemoglobinopatías/terapia , Hemoglobinopatías/diagnósticoRESUMEN
BACKGROUND: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder due to mutations in the TYMP gene. Clinical findings are characterized by neurologic manifestations and severe gastrointestinal dysfunction. The syndrome is usually fatal, the most effective treatment appears to be hematopoietic stem cell transplantation (HSCT). PROCEDURE: In this retrospective study, we evaluated HSCT that was performed using a reduced toxicity myeloablative conditioning regimen in patients with MNGIE at our center. RESULTS: A total of six allogeneic transplant procedures were performed in four patients. Three patients had fully matched donors, and one patient had a haploidentical donor. Treosulfan-based myeloablative conditioning regimen was applied in five of six transplants. Bone marrow was used as a stem cell source. One patient is being followed up in the 4th year of posttransplant with full chimeric and without graft versus host disease (GVHD). One patient died of acute stage IV gastrointestinal system GVHD. Two patients underwent second transplantation due to engraftment failure, one of which was the patient who had a haploidentical transplant. CONCLUSIONS: Treosulfan-based regimen is well tolerated, although engraftment failure with this conditioning regimen can be a significant problem. We share our haploidentical transplant experience, which will be the first reported case in the literature.
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Enfermedad Injerto contra Huésped , Trasplante de Células Madre Hematopoyéticas , Humanos , Estudios Retrospectivos , Trasplante Homólogo/métodos , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Enfermedad Injerto contra Huésped/etiología , Acondicionamiento Pretrasplante/métodosRESUMEN
Abstract Background and objective: With the widespread use of allogeneic hematopoietic stem cell transplantation (allo-HSCT), long-term complications have come to the fore. The aim of this study was to determine the prevalence and risk factors of chronic kidney disease (CKD) developing in the long term in patients who underwent allo-HSCT in childhood and also to investigate the superiority of eGFR formulas. Methods: The present study evaluated CKD in patients who underwent allo-HSCT. We analyzed the 94 children who received allo-HSCT at the Ege University in İzmir between August and November, 2019. The patients were evaluated at 2 years after transplantation. CKD was defined as a glomerular filtration rate (GFR) <90 mL/min/1.73 m2 using eGFR equations based on serum creatinine (SCr), cystatin C (CysC), and SCr plus CysC. Results: In our study, 9 (9.4%), according to Bedside Schwartz, 59 (76.6%), according to CKiD-eGFR-CysC, and 20 (26%) patients, according to CKiD-eGFR-SCr-CysC equations were identified with CKD. In cases identifies as CKD according to CysC, early development of acute kidney injury (AKI), post-transplant cytomegalovirus (CMV) reactivation and being >120 months during transplantation were found to be associated with the development of CKD. Conclusion: We may be delayed in detecting CKD by calculating SCr-based formulas in allo-HSCT cases, which is a patient group where early diagnosis and treatment of CKD is very important.
Resumo Antecedentes e objetivo: Com o uso generalizado do transplante alogênico de células-tronco hematopoiéticas (TCTH-alo), as complicações a longo prazo tornaram-se evidentes. O objetivo deste estudo foi determinar a prevalência e os fatores de risco do desenvolvimento de doença renal crônica (DRC) a longo prazo em pacientes submetidos a TCTH-alo na infância, e também investigar a superioridade das fórmulas de TFGe. Métodos: O presente estudo avaliou a DRC em pacientes que foram submetidos ao TCTH-alo. Analisamos as 94 crianças que receberam TCTH-alo na Universidade Ege em İzmir entre Agosto e Novembro de 2019. Os pacientes foram avaliados aos 2 anos após o transplante. A DRC foi definida como uma taxa de filtração glomerular (TFG) <90 mL/min/1,73 m2 usando equações de TFGe baseadas em creatinina sérica (CrS), cistatina C (CisC), e CrS mais CisC. Resultados: Em nosso estudo, 9 pacientes (9,4%), de acordo com a equação de Schwartz (à beira do leito), 59 (76,6%), de acordo com a equação DRC-TFGe-CisC, e 20 (26%) pacientes, de acordo com a equação DRC-TFGe-CrS-CisC, foram classificados com DRC. Quando a TFG é avaliada pela CisC, verificamos que o desenvolvimento precoce de lesão renal aguda (LRA), a reativação do citomegalovírus (CMV) pós-transplante e ter >120 meses durante o transplante foram associados ao desenvolvimento de DRC. Conclusão: Pode haver atraso na detecção da DRC quando usamos fórmulas baseadas em CrS em casos de TCTH-alo, que é um grupo de pacientes onde o diagnóstico e tratamento precoces da DRC são muito importantes.
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INTRODUCTION: The increasing incidence of Stenotrophomonas maltophilia ( S. maltophilia ) infections raises concern because of the high fatality/case ratio. This study aimed to evaluate the risk factors for infection and mortality associated with S. maltophilia bloodstream infections (BSIs) in children and compare them with Pseudomonas aeruginosa BSIs. METHODS: All BSIs caused by S. maltophilia (n:73) and P. aeruginosa (n:80) were enrolled in this study between January 2014 and December 2021 at the Medical School of Ege University. RESULTS: Previous Pediatric Intensive Care Unit (PICU) admission, prior glycopeptide, and carbapenem use were significantly more common in patients with S. maltophilia BSIs ( P = 0.044, P = 0.009, and P = 0.001, respectively) than with P. aeruginosa BSIs. C-reactive protein (CRP) levels were significantly higher in S. maltophilia BSIs ( P = 0.002). Multivariate analysis showed that prior carbapenem use was associated with S. maltophilia BSIs ( P = 0.014, adjusted odds ratio [AOR]: 2.710; 95% confidence interval [CI]: 1.225-5.992). PICU admission because of BSI, prior carbapenem and glycopeptide use, neutropenia, and thrombocytopenia were significantly more common in patients with mortality because of S. maltophilia BSIs ( P < 0.001, P = 0.010, P = 0.007, P = 0.008, P = 0.004, respectively), while only PICU admission because of BSI, and prior glycopeptide use were significant in multivariate analysis (AOR, 19.155; 95% CI: 2.337-157.018; P = 0.006 and AOR, 9.629; 95% CI: 1.053-88.013; P = 0.045, respectively). CONCLUSION: Prior carbapenem use is a significant risk factor for developing S. maltophilia BSIs. PICU admission because of BSI and prior glycopeptide use are risk factors associated with the mortality rate in patients with S. maltophilia BSIs. Therefore, S. maltophilia should be considered in patients with these risk factors, and empirical treatment should include antibiotics for S. maltophilia .
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Bacteriemia , Infecciones por Bacterias Gramnegativas , Neutropenia , Infecciones por Pseudomonas , Sepsis , Stenotrophomonas maltophilia , Humanos , Niño , Pseudomonas aeruginosa , Estudios Retrospectivos , Infecciones por Bacterias Gramnegativas/tratamiento farmacológico , Bacteriemia/tratamiento farmacológico , Infecciones por Pseudomonas/epidemiología , Infecciones por Pseudomonas/tratamiento farmacológico , Antibacterianos/uso terapéutico , Carbapenémicos/uso terapéutico , Sepsis/tratamiento farmacológico , Neutropenia/tratamiento farmacológico , Factores de RiesgoRESUMEN
BACKGROUND AND OBJECTIVE: With the widespread use of allogeneic hematopoietic stem cell transplantation (allo-HSCT), long-term complications have come to the fore. The aim of this study was to determine the prevalence and risk factors of chronic kidney disease (CKD) developing in the long term in patients who underwent allo-HSCT in childhood and also to investigate the superiority of eGFR formulas. METHODS: The present study evaluated CKD in patients who underwent allo-HSCT. We analyzed the 94 children who received allo-HSCT at the Ege University in Izmir between August and November, 2019. The patients were evaluated at 2 years after transplantation. CKD was defined as a glomerular filtration rate (GFR) <90 mL/min/1.73 m2 using eGFR equations based on serum creatinine (SCr), cystatin C (CysC), and SCr plus CysC. RESULTS: In our study, 9 (9.4%), according to Bedside Schwartz, 59 (76.6%), according to CKiD-eGFR-CysC, and 20 (26%) patients, according to CKiD-eGFR-SCr-CysC equations were identified with CKD. In cases identifies as CKD according to CysC, early development of acute kidney injury (AKI), post-transplant cytomegalovirus (CMV) reactivation and being >120 months during transplantation were found to be associated with the development of CKD. CONCLUSION: We may be delayed in detecting CKD by calculating SCr-based formulas in allo-HSCT cases, which is a patient group where early diagnosis and treatment of CKD is very important.
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Trasplante de Células Madre Hematopoyéticas , Insuficiencia Renal Crónica , Humanos , Niño , Tasa de Filtración Glomerular/fisiología , Cistatina C , Creatinina , Riñón , Trasplante de Células Madre Hematopoyéticas/efectos adversosRESUMEN
We report the national data on the outcomes of hematopoietic stem cell transplantation (HSCT) for thalassemia major (TM) patients in Turkey on behalf of the Turkish Pediatric Stem Cell Transplantation Group. We retrospectively enrolled 1469 patients with TM who underwent their first HSCT between 1988 and 2020 in 25 pediatric centers in Turkey. The median follow-up duration and transplant ages were 62 months and 7 years, respectively; 113 patients had chronic graft versus host disease (cGVHD) and the cGVHD rate was 8.3% in surviving patients. Upon the last visit, 30 patients still had cGvHD (2.2%). The 5-year overall survival (OS), thalassemia-free survival (TFS) and thalassemia-GVHD-free survival (TGFS) rates were 92.3%, 82.1%, and 80.8%, respectively. cGVHD incidence was significantly lower in the mixed chimerism (MC) group compared to the complete chimerism (CC) group (p < 0.001). In survival analysis, OS, TFS, and TGFS rates were significantly higher for transplants after 2010. TFS and TGFS rates were better for patients under 7 years and at centers that had performed over 100 thalassemia transplants. Transplants from matched unrelated donors had significantly higher TFS rates. We recommend HSCT before 7 years old in thalassemia patients who have a matched donor for improved outcomes.
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Enfermedad Injerto contra Huésped , Trasplante de Células Madre Hematopoyéticas , Talasemia , Talasemia beta , Niño , Enfermedad Injerto contra Huésped/etiología , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Humanos , Estudios Retrospectivos , Talasemia/complicaciones , Talasemia/terapia , Acondicionamiento Pretrasplante/efectos adversos , Turquía/epidemiología , Talasemia beta/complicaciones , Talasemia beta/terapiaRESUMEN
Mutations in the interleukin-21 receptor (IL-21R) gene are recently defined as primary immunodeficiency diseases. IL-21R defects result in combined immunodeficiency by affecting the functions of innate and adaptive immune system components.A six-year-old girl was admitted to our hospital with complaints of chronic diarrhea that started after the newborn period and generalized rash over the last three months. She had severe respiratory distress due to Cytomegalovirus (CMV) pneumonia requiring mechanical ventilation and was diagnosed as combined immunodeficiency at another hospital at the age of four. Her physical examination on admission revealed erythematous rash on cheeks, extremities, gluteal region, and lymph node enlargements in cervical, axillary, and inguinal regions. CMV DNA and stool Cryptosporidium parvum were positive. Marginal zone lymphoma -negative for Epstein-Bar virus- was reported in the lymph node biopsy. Targeted next-generation sequencing Ion AmpliSeq™ primary immunodeficiency panel revealed a novel homozygous IL21R c.132delC (p.Ser45fs) mutation.This case is presented to emphasize that IL21R defects should be considered in the differential diagnosis of the patients with recurrent respiratory infections, chronic diarrhea, C. parvum infection, chronic liver disease, sclerosing cholangitis, and malignancy where early hematopoietic stem cell transplantation (HSCT) is life-saving. A total of eight cases with IL21R gene defects have been reported so far. The significance of this case is that it is the first case of malignancy among the published IL-21R deficient patients successfully treated with HSCT.
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Trasplante de Células Madre Hematopoyéticas , Linfoma , Enfermedades de Inmunodeficiencia Primaria , Niño , Criptosporidiosis , Infecciones por Citomegalovirus , Diarrea/etiología , Diarrea/terapia , Exantema/etiología , Exantema/terapia , Femenino , Humanos , Linfoma/genética , Linfoma/terapia , Mutación , Infección Persistente , Neumonía Viral , Enfermedades de Inmunodeficiencia Primaria/complicaciones , Enfermedades de Inmunodeficiencia Primaria/genética , Enfermedades de Inmunodeficiencia Primaria/terapia , Receptores de Interleucina-21/genéticaRESUMEN
OBJECTIVES: The early and late complications after hematopoietic stem cell transplantation (HSCT) determine the patients' prognosis and life quality. We aim to determine the metabolic syndrome development frequency after HSCT in children to find out the risk factors and compare them with healthy adolescents. METHODS: Thirty-six children who underwent HSCT at least two years ago were analyzed prospectively and cross-sectionally. Our study included 18 healthy children between the ages of 11 and 17 as a control group. All of the cases were assessed in terms of metabolic syndrome (MS) through the use of Modified WHO Criteria. RESULTS: The patients' median age was 10.6 (5.1-17) years, the median time of follow-up after HCST was 4.1 (2-13.5) years and 70% were male. Two cases were diagnosed with MS (5.6%). When considered in terms of the sub-components of MS, 2 cases (5.6%) were found to have obesity, 17 cases (47%) abnormal glucose tolerance, 11 cases (30.7%) dyslipidemia, and 3 cases (8.6%) hypertension. The MS rate was not different when compared with the 11-17 year-old healthy control group (0 vs. 11%, p=0.48). Myeloablative conditioning regimen (65 vs. 20%) and the increased age at which HSCT was performed were considered to be risk factors in terms of insulin resistance (p=0.025 and 0.002). CONCLUSIONS: Age and conditioning regimens were found to be the risk factors for insulin resistance development. The long-term follow-up of the cases who had undergone HSCT in childhood in terms of MS and its sub-components is important in order to increase life quality.
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Trasplante de Células Madre Hematopoyéticas/efectos adversos , Síndrome Metabólico/etiología , Adolescente , Índice de Masa Corporal , Niño , Preescolar , Estudios Transversales , Dislipidemias/inducido químicamente , Ejercicio Físico , Femenino , Intolerancia a la Glucosa/etiología , Humanos , Hipertensión/inducido químicamente , Masculino , Síndrome Metabólico/epidemiología , Estado Nutricional , Obesidad/etiología , Estudios Prospectivos , Factores de Riesgo , Acondicionamiento Pretrasplante/efectos adversosRESUMEN
Although rare bleeding disorders (RBDs) are not common diseases, they are important for life-threatening bleedings and prophylaxis approaches, especially in severe forms. In this retrospective study, the authors have analyzed data from children with severe RBDs who were examined at the center over a period of 10 years to describe the distribution, clinical features, treatment patterns, and outcome of severe RBDs in patients. Data from all children (age under 18 y) with RBDs who were examined in the center between 2005 and 2015 were retrospectively reviewed. In total, 12 patients were included in the study. Four of the cases had factor (F) VII (33.3%), 6 had FX (50%), 1 had FXIII (8.3%), and 1 had fibrinogen deficiency (8.3%). Of the 12 children with severe RBDs, 8 (67%) experienced at least 1 major bleeding. Prophylaxis was applied to 10 patients. In conclusion, RBDs are more common in our country because of the high parental consanguinity rates. So, it is necessary to raise public awareness about the risks of consanguineous marriages and increase access to genetic counseling and testing facilities. Delayed diagnosis and lack of adequate prophylactic replacement therapy are the most important risk factors that increase life-threatening bleeding.
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Trastornos de la Coagulación Sanguínea/epidemiología , Hemorragia/epidemiología , Trastornos Hemorrágicos/epidemiología , Trastornos de la Coagulación Sanguínea/diagnóstico , Femenino , Hemorragia/diagnóstico , Trastornos Hemorrágicos/diagnóstico , Humanos , Lactante , Recién Nacido , Masculino , Enfermedades Raras/diagnóstico , Enfermedades Raras/epidemiología , Estudios RetrospectivosRESUMEN
Non-typhoidal Salmonella (NTS) is an important pathogen that causes gastroenteritis, bacteraemia, and focal infections. Herein, we present our experience with bloodstream infections caused by Salmonella in paediatric leukaemia patients, which has been reported for the first time in both Europe and the US. According to our research, NTS might be a cause of serious infections in paediatric haematology-oncology patients. Following a low bacterial diet and increasing the hygiene of both the children and their surroundings would be beneficial in preventing these infections.
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OBJECTIVE: To report a case of late-onset self-healing Langerhans cell histiocytosis. CASE DESCRIPTION: A 4½-month-old female patient presenting with an eythematopurpuric eruption underwent a skin biopsy for histopathology and was first diagnosed with isolated cutaneous Langerhans cell histiocytosis. Her lesions regressed within a few months and she was retrospectively diagnosed with late-onset self-healing Langerhans cell histiocytosis after being without skin or systemic involvement in a follow-up four years later. COMMENTS: Self-healing Langerhans cell histiocytosis, which is characterized by clonal proliferation of Langerhans cells and presents with cutaneous lesions, is a rare self-limited variant of histiocytosis and can only be diagnosed retrospectively, after the patient remains free from systemic involvement for several years. Although it presents at birth or during the neonatal period, only a few cases of its late-onset type regarding the age of onset have been reported. Purpuric lesions that appear after the neonatal period serve as a clue for late-onset self-healing Langerhans cell histiocytosis and the patients should be monitored regularly for systemic involvement if the diagnosis is confirmed by a cutaneous biopsy.
OBJETIVO: Relatar um caso de histiocitose de células de Langerhans autolimitada e de início tardio. DESCRIÇÃO DO CASO: Paciente com 4 meses e meio de idade do sexo feminino, apresentando uma erupção cutânea eritematosa purpúrea, foi submetida a uma biópsia de pele, sendo diagnosticada com histiocitose de células de Langerhans cutânea isolada. As lesões regrediram em poucos meses e ela foi diagnosticada, retrospectivamente, com histiocitose de células de Langerhans autolimitada e de início tardio, após não apresentar nenhum envolvimento cutâneo ou sistêmico durante um seguimento de quatro anos. COMENTÁRIOS: A histiocitose de células de Langerhans autolimitada caracteriza-se pela proliferação clonal das células de Langerhans e apresenta-se com lesões cutâneas, sendo uma variante autolimitada rara de histiocitose. A doença só pode ser diagnosticada de forma retrospectiva, após o paciente não apresentar nenhum envolvimento sistêmico durante vários anos. Embora existam casos de manifestações ao nascimento ou durante o período neonatal, apenas alguns casos de histiocitose de células de Langerhans de idade tardia foram relatados. Lesões purpúreas que aparecem após o período neonatal podem sugerir histiocitose de células de Langerhans autolimitada e de início tardio. Uma vez confirmado o diagnóstico por biópsia cutânea, tais pacientes devem ser acompanhados regularmente, pois pode haver comprometimento sistêmico.
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Histiocitosis de Células de Langerhans , Femenino , Humanos , Lactante , Remisión Espontánea , Factores de TiempoRESUMEN
RESUMO Objetivo: Relatar um caso de histiocitose de células de Langerhans autolimitada e de início tardio. Descrição do caso: Paciente com 4 meses e meio de idade do sexo feminino, apresentando uma erupção cutânea eritematosa purpúrea, foi submetida a uma biópsia de pele, sendo diagnosticada com histiocitose de células de Langerhans cutânea isolada. As lesões regrediram em poucos meses e ela foi diagnosticada, retrospectivamente, com histiocitose de células de Langerhans autolimitada e de início tardio, após não apresentar nenhum envolvimento cutâneo ou sistêmico durante um seguimento de quatro anos. Comentários: A histiocitose de células de Langerhans autolimitada caracteriza-se pela proliferação clonal das células de Langerhans e apresenta-se com lesões cutâneas, sendo uma variante autolimitada rara de histiocitose. A doença só pode ser diagnosticada de forma retrospectiva, após o paciente não apresentar nenhum envolvimento sistêmico durante vários anos. Embora existam casos de manifestações ao nascimento ou durante o período neonatal, apenas alguns casos de histiocitose de células de Langerhans de idade tardia foram relatados. Lesões purpúreas que aparecem após o período neonatal podem sugerir histiocitose de células de Langerhans autolimitada e de início tardio. Uma vez confirmado o diagnóstico por biópsia cutânea, tais pacientes devem ser acompanhados regularmente, pois pode haver comprometimento sistêmico.
ABSTRACT Objective: To report a case of late-onset self-healing Langerhans cell histiocytosis. Case description: A 4½-month-old female patient presenting with an eythematopurpuric eruption underwent a skin biopsy for histopathology and was first diagnosed with isolated cutaneous Langerhans cell histiocytosis. Her lesions regressed within a few months and she was retrospectively diagnosed with late-onset self-healing Langerhans cell histiocytosis after being without skin or systemic involvement in a follow-up four years later. Comments: Self-healing Langerhans cell histiocytosis, which is characterized by clonal proliferation of Langerhans cells and presents with cutaneous lesions, is a rare self-limited variant of histiocytosis and can only be diagnosed retrospectively, after the patient remains free from systemic involvement for several years. Although it presents at birth or during the neonatal period, only a few cases of its late-onset type regarding the age of onset have been reported. Purpuric lesions that appear after the neonatal period serve as a clue for late-onset self-healing Langerhans cell histiocytosis and the patients should be monitored regularly for systemic involvement if the diagnosis is confirmed by a cutaneous biopsy.
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Humanos , Femenino , Lactante , Histiocitosis de Células de Langerhans , Remisión Espontánea , Factores de TiempoRESUMEN
Primary varicella-zoster virus (VZV) infection is a benign self-limited disease. In this study, we review our experience in focusing on the outcome and treatment of VZV infection in pediatric malignancy patients. During the study period, a total of 41 patients with pediatric malignancy had been hospitalized with the diagnosis of VZV infection. All the patients were treated with intravenous acyclovir for a median of 7 days (ranging from 5 to 21 days). The calculated attributable delay of chemotherapy due to VZV infections was 8 days (ranging from 2 to 60 days). VZV-related complications were observed in 3 of 41 patients (7%) who suffered from acute respiratory distress syndrome, and one of them with hemophagocytic lymphohistiocytosis died due to respiratory failure despite acyclovir and broad-spectrum antimicrobial treatment plus supportive treatment. VZV infections are still important contagious diseases in pediatric cancer patients, because they cause not only significant mortality but also a delay in chemotherapy.
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Herpes Zóster/epidemiología , Herpes Zóster/etiología , Herpesvirus Humano 3 , Neoplasias/complicaciones , Neoplasias/epidemiología , Factores de Edad , Niño , Preescolar , Femenino , Herpes Zóster/diagnóstico , Hospitalización , Humanos , Lactante , Masculino , Neoplasias/diagnóstico , Vigilancia de la Población , Estudios RetrospectivosAsunto(s)
Migración Humana , Neoplasias/epidemiología , Salud Pública , Humanos , Neoplasias/patología , Refugiados , Turquía/epidemiologíaRESUMEN
The variable presence of adrenal insufficiency (AI) due to hypocortisolemia (HC) in patients with thalassemia is well established; however, the prevalence of adrenocortical hypofunction (ACH) in the zona glomerulosa and zona reticularis of the adrenal cortex is unknown. To establish the prevalence of ACH, we examined the cortisol response to 1-µg and 250-µg ACTH tests, plasma aldosterone (A)/plasma renin activity (PRA) ratio, and serum dehydroepiandrosterone sulfate (DHEAS) levels in a large cohort of patients with thalassemia, and to investigate the impact of total body iron load (TBIL) on adrenocortical function. The setting used was University hospital and government-based tertiary care center. One hundred twenty-one (52 females) patients with ß-thalassemia major (ß-TM) and 72 healthy peers (38 females) were enrolled. The patients underwent a 250-µg cosyntropin test if their peak cortisol was <500 nmol/L in a 1-µg cosyntropin test. Magnetic resonance imaging (MRI) was performed to assess the MRI-based liver iron content and cardiac MRI T2* iron. The associations between ACH and TBIL were investigated. The patients with thalassemia had lower ACTH, cortisol, DHEAS, and A/PRA values compared with the controls (p < 0.001). Thirty-nine patients (32.2 %) had HC [primary (n = 1), central (n = 36), combined (n = 2)], and 47 (38.8 %) patients had reduced DHEAS levels; 29 (24.0 %) patients had reduced A/PRA ratios. Forty-six (38.0 %) patients had hypofunction in one of the adrenal zones, 26 (21.5 %) had hypofunction in two adrenal zones, and 9 (7.4 %) had hypofunction in all three zones. Patient age and TBIL surrogates were significant independent parameters associated with ACH. Cardiac MRI T2* iron was the only significant parameter that predicted the severity of ACH at a cut-off of 20.6 ms, with 81 % sensitivity and 78 % specificity. Patients with thalassemia have a high prevalence of AI due to HC and zona glomerulosa and zona reticularis hypofunction. TBIL surrogates can predict ACH, but cardiac iron was the only surrogate that was adequately sensitive to predict the severity of ACH.
Asunto(s)
Insuficiencia Suprarrenal/sangre , Aldosterona/sangre , Sulfato de Deshidroepiandrosterona/sangre , Hidrocortisona/sangre , Hierro/sangre , Renina/sangre , Talasemia beta/sangre , Adolescente , Hormona Adrenocorticotrópica , Niño , Preescolar , Femenino , Humanos , MasculinoRESUMEN
This study aimed to analyze children with the diagnosis of Langerhans cell histiocytosis (LCH) who were diagnosed and treated between 1998-2015. Medical records were evaluated retrospectively for clinical and laboratory features, treatment details, and outcome. There were 20 patients, the median age of diagnosis was 37 months, M/F ratio: 1.5. Nine had single system (SS), 11 had multisystem (MS) LCH. Spontaneous regression occurred in three infants with skin limited LCH. Eight patients had risk organ involvement in MS-LCH group. The curettage alone was performed in only one case. Patients received LCH-II/ LCH-III based chemotherapy schema. Radiotherapy was performed to vertebral disease and residual craniofacial bone disease in four cases. The regression and relapse rates were 100% and 33% for SS-LCH. The regression and relapse rates were 73%, and 18% for MS-LCH. Two infants with MS-LCH died despite chemotherapy. Pulmonary and liver involvements affected outcome adversely in MS-LCH. Multidisciplinary treatment approaches are needed.