RESUMO
BACKGROUND: We aimed to investigate whether the presence of mannose binding lectin (MBL2), ficolin 2 (FCN2) polymorphisms or the combined deficiency significantly influence the risk and subsequently the frequency of chemotherapy-induced bacterial infections in children with B acute lymphoblastic leukemia (B-ALL). PROCEDURE: MBL2 polymorphisms for exon 1 and FCN2 polymorphisms for promoter regions -986, -602, -557, -64, -4 and exon 8 regions +6,359, +6,424 were determined in children with B-ALL. FCN2 haplotype was determined by gene sequencing. Number and duration of FN episodes as well as number of bacterial infections were recorded during induction chemotherapy. RESULTS: Forty-four children with B-ALL (median age 4.3 years, 65.9% males) suffered from 142 FN episodes and 92 bacterial infections (40.2% Gram positive and 59.8% Gram negative). MBL2 low-risk genotype was found in 59.1%, medium-risk in 31.8% and high-risk in 9%. FCN2 low-risk haplotypes were detected in 38.2%, medium-risk in 44.1% and high-risk in 17.6%. MBL2 genotype and FCN2 haplotype were not associated with increased frequency of FN episodes. MBL2 medium/high-risk genotype and FCN2 medium/high-risk haplotype were associated with prolonged duration of FN (P = 0.007 and P = 0.001, respectively) and increased number of bacterial infections (P = 0.001 and P = 0.002, respectively). The combined MBL2/FCN2 medium/high-risk genotype was associated with an increased number of bacterial infections (P = 0.001). CONCLUSIONS: MBL2 and FCN2 single or combined deficiencies are associated with increased duration of FN episodes as well as increased number of bacterial infections in children with B-ALL suggesting a prognostic role of these genes.
Assuntos
Infecções Bacterianas/genética , Neutropenia Febril/genética , Lectinas/fisiologia , Lectina de Ligação a Manose/fisiologia , Polimorfismo Genético , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Infecções Bacterianas/etiologia , Criança , Pré-Escolar , Códon/genética , Éxons/genética , Neutropenia Febril/induzido quimicamente , Feminino , Predisposição Genética para Doença , Genótipo , Haplótipos , Humanos , Imunidade Inata , Hospedeiro Imunocomprometido , Lactente , Lectinas/deficiência , Lectinas/genética , Masculino , Lectina de Ligação a Manose/deficiência , Lectina de Ligação a Manose/genética , Lectina de Ligação a Manose/imunologia , Erros Inatos do Metabolismo/complicações , Erros Inatos do Metabolismo/imunologia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/complicações , Risco , FicolinasRESUMO
Loefler endocarditis is a potential fatal adverse event of hypereosinophilic syndrome. We report a case of a 5-year-old girl diagnosed with peripheral hypereosinophilia refractory to corticosteroid therapy who developed eosinophilia-related endocarditis. Echocardiography revealed infiltration of the left ventricular free wall and the posterior mitral leaflet causing moderate mitral regurgitation. Genetic tests failed to recognize FIPiLi-PDGRFA genotype; however imatinib, a tyrosine kinase inhibitor was initiated. After a 4-week period of treatment there was a complete resolution of eosinophilia and a complete recovery of cardiac manifestation. This case highlights the introduction of imatinib for the treatment of hypereosinophilic syndrome refractory to corticosteroid therapy even in the absence of FIPiLi-PDGRFA genotype in pediatric patients.
Assuntos
Antineoplásicos/administração & dosagem , Benzamidas/administração & dosagem , Síndrome Hipereosinofílica , Piperazinas/administração & dosagem , Pirimidinas/administração & dosagem , Pré-Escolar , Eletrocardiografia , Feminino , Humanos , Síndrome Hipereosinofílica/complicações , Síndrome Hipereosinofílica/tratamento farmacológico , Síndrome Hipereosinofílica/genética , Síndrome Hipereosinofílica/fisiopatologia , Mesilato de ImatinibAssuntos
Erros de Diagnóstico , Hemangioma/fisiopatologia , Larva Migrans Visceral/diagnóstico , Hepatopatias/parasitologia , Toxocara canis/isolamento & purificação , Animais , Humanos , Larva Migrans Visceral/tratamento farmacológico , Larva Migrans Visceral/fisiopatologia , Masculino , Resultado do TratamentoRESUMO
Candida hellenica var. hellenica (teleomorph Zygoascus meyerae) is a member of the genus Zygoascus that comprises species isolated from environmental sources such as damaged grapes. A case of a possible pneumonia due to this uncommon yeast in a pediatric oncology patient suffering from acute myeloid leukemia is described. To our knowledge, this is the first report concerning the isolation of the species from a pediatric patient and the second in humans.
Assuntos
Candida/isolamento & purificação , Candidíase/diagnóstico , Candidíase/microbiologia , Leucemia Mieloide Aguda/complicações , Pneumopatias Fúngicas/diagnóstico , Pneumopatias Fúngicas/microbiologia , Candida/classificação , Pré-Escolar , DNA Fúngico/química , DNA Fúngico/genética , DNA Ribossômico/química , DNA Ribossômico/genética , DNA Espaçador Ribossômico/química , DNA Espaçador Ribossômico/genética , Feminino , Humanos , Testes de Sensibilidade Microbiana , Dados de Sequência Molecular , Técnicas de Tipagem Micológica , Filogenia , Análise de Sequência de DNARESUMO
We describe the case of a 5-year-old girl with severe congenital neutropenia presenting with recurrent skin and respiratory infections. Sequence analysis of ELANE and HAX1 genes identified a mutation in heterozygous state in exon 2 of the ELANE gene: c.157C > G (p.His53Asp), not previously described in the literature at the exon coding level. Given the autosomal dominant inheritance and the location of the mutation within a "hotspot," this mutation was considered as clinically relevant. ELANE should be screened in patients with congenital neutropenia of no obvious etiology. A detailed medical history and clinical evaluation can prevent unnecessary investigations allowing for a targeted diagnostic strategy.
RESUMO
Yolk sac tumor is the most common malignant neoplasm of germ cell origin and usually occurs in infant testes or ovaries. On rare occasions, the tumor arises from extragonadal sites, including the sacrococcygeal region, uterus, vagina, prostate, retroperitoneum, liver, mediastinum (commonly in the anterior), pineal gland, and third ventricle. Yolk sac tumors have an unfavorable prognosis, if not treated aggressively. We report the case of a 3-year-old boy with a primary posterior mediastinal yolk sac tumor who was managed initially with surgery, followed by chemotherapy and had a favorable prognosis. In the literature on yolk sac tumors presenting as a mediastinal mass, pediatric germ cell tumors have been reported very rarely in the posterior mediastinum.
RESUMO
Gogou M, Pavlidou E, Pavlou E, Papageorgiou T, Tragiannidis A, Giannopoulos A, Hatzipantelis E. Charcot-Marie -Tooth 1A concurrent with anaplastic ependymoma in a toddler: when an acute event unmasks a chronic condition. Turk J Pediatr 2019; 61: 428-430. We report a 14-month-old toddler admitted to the Pediatric Oncology Department after surgical resection of supratentorial anaplastic ependymoma. The child was treated with International Society of Pediatric Oncology Ependymoma II 2015 chemotherapy protocol (vincristine, carboplatin, cisplatin, cyclophosphamide and methotrexate). At the end of the first cycle the child presented with symptoms such as unsteadiness and ataxic gait along with decreased motor and sensory action potentials of the limbs. As the father of the child was diagnosed with Charcot-Marie-Tooth 1A disease, a genetic analysis of the PMP22 gene was performed confirming the diagnosis of Charcot- Marie-Tooth 1A in the child, too. This case gently reminds the possibility of vincristine-induced neurotoxicity and underscores the significance of an appropriate neurological assessment before vincristine initiation.
Assuntos
Doença de Charcot-Marie-Tooth/diagnóstico , Ependimoma/diagnóstico , Mutação , Proteínas da Mielina/genética , Doença Aguda , Doença de Charcot-Marie-Tooth/complicações , Doença de Charcot-Marie-Tooth/genética , Doença Crônica , Análise Mutacional de DNA , Diagnóstico Diferencial , Ependimoma/complicações , Ependimoma/genética , Feminino , Humanos , Lactente , Proteínas da Mielina/metabolismoRESUMO
Enterococcal meningitis is an uncommon disease in children, most frequently reported in infants or in children with central nervous system pathology. We report a rare case of Enterococcus faecalis meningitis in an 11-year-old child with non-Hodgkin lymphoma. The patient during the course of chemotherapy became neutropenic, febrile, agitated, and disoriented with clinical signs of meningeal irritation. Culture of cerebrospinal fluid yielded Enterococcus faecalis. The patient was successfully treated with ampicillin without any neurological defects.
Assuntos
Enterococcus faecalis/isolamento & purificação , Infecções por Bactérias Gram-Positivas/diagnóstico , Linfoma não Hodgkin/complicações , Meningites Bacterianas/complicações , Meningites Bacterianas/diagnóstico , Ampicilina/uso terapêutico , Antibacterianos/uso terapêutico , Criança , Infecções por Bactérias Gram-Positivas/complicações , Infecções por Bactérias Gram-Positivas/tratamento farmacológico , Humanos , Masculino , Meningites Bacterianas/tratamento farmacológico , Punção EspinalRESUMO
Extraskeletal Ewing sarcoma (EES) represents a rare soft tissue malignant neoplasm histologically similar to skeletal Ewing sarcoma. It occurs mainly in adolescents and young adults and commonly affects the paravertebral regions. The differential diagnosis includes other small, blue round cells tumors. The authors report a case of an EES involving the spinal epidural and paravertebral spaces in an adolescent boy. EES diagnosis was confirmed by features of histologic analysis and immunohistochemistry and by the presence of the t(11;22)(q24;q12) chromosomal translocation by reverse transcriptase-polymerase chain reaction.
Assuntos
Sarcoma de Ewing/diagnóstico , Neoplasias de Tecidos Moles/diagnóstico , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Dor nas Costas/etiologia , Biomarcadores Tumorais/análise , Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 11/ultraestrutura , Cromossomos Humanos Par 22/genética , Cromossomos Humanos Par 22/ultraestrutura , Terapia Combinada , Ciclofosfamida/administração & dosagem , DNA de Neoplasias/genética , Doxorrubicina/administração & dosagem , Espaço Epidural , Etoposídeo/administração & dosagem , Fraturas por Compressão/etiologia , Fraturas Espontâneas/etiologia , Humanos , Ifosfamida/administração & dosagem , Laminectomia , Imageamento por Ressonância Magnética , Masculino , Mesna/administração & dosagem , Proteínas de Neoplasias/análise , Proteínas de Fusão Oncogênica/análise , Proteínas de Fusão Oncogênica/genética , Proteína Proto-Oncogênica c-fli-1 , Proteína EWS de Ligação a RNA , Radioterapia Adjuvante , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Sarcoma de Ewing/química , Sarcoma de Ewing/diagnóstico por imagem , Sarcoma de Ewing/tratamento farmacológico , Sarcoma de Ewing/genética , Sarcoma de Ewing/patologia , Sarcoma de Ewing/cirurgia , Neoplasias de Tecidos Moles/química , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias de Tecidos Moles/tratamento farmacológico , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/cirurgia , Fraturas da Coluna Vertebral/etiologia , Vértebras Torácicas/cirurgia , Tomografia Computadorizada por Raios X , Fatores de Transcrição/análise , Fatores de Transcrição/genética , Translocação Genética , Vincristina/administração & dosagemRESUMO
The aim of our study was to evaluate bone metabolism with measurement of bone mineral density (BMD) after management (chemo-, radiotherapy) for childhood acute lymphoblastic leukemia (ALL). Bone mineral density (g/cm2) of lumbar spine was measured by dual energy X-ray absorptiometry (Norland bone densitometer) in 18 children with ALL and a median of 34 months' post-diagnosis with no history of relapse, secondary malignancy, or transplantation. In addition, patients' BMDs were correlated with particular attention to age, sex and time (years) from completion of chemotherapy. The results were compared with healthy age- and sex-matched controls of the same population and expressed as standard deviation scores (SDS). Mean age of children was 9.8 +/- 3.7 years. Of 18 children (10 boys and 8 girls), 13 were grouped as standard and 5 as high-risk, respectively. Based on z-score values, 9 were classified as normal (z-score <1 SD), 7 as osteopenic (z-score 1-2.5 SD) and 2 as osteoporotic (z-score >2.5 SD). Children with ALL had reduced lumbar BMDs (z score -0.99) in comparison to healthy controls (z score -0.14) (p=0.011), which is indicative of relative osteopenia. Moreover, the reduced BMD was associated with patient age (z score -0.14 and -1.52 for ages <10 and >10 years, respectively, p=0.016). Reduced BMD was not correlated with time from completion of chemotherapy (p=0.33), risk group (p=0.9) and sex (p=0.3). We conclude that children's BMDs are reduced after completion of chemotherapy for ALL. The causes are multifactorial and mainly related to antineoplastic treatments, such as corticosteroids and methotrexate, physical inactivity and cranial irradiation. We suggest that further studies are needed to evaluate the long-term effect on BMD in these children and to prevent pathological fractures later in life.
Assuntos
Antineoplásicos/efeitos adversos , Doenças Ósseas Metabólicas/etiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Absorciometria de Fóton , Densidade Óssea , Doenças Ósseas Metabólicas/diagnóstico por imagem , Estudos de Casos e Controles , Criança , Feminino , Humanos , Vértebras Lombares/diagnóstico por imagem , Masculino , Osteoporose/diagnóstico por imagem , Osteoporose/etiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , SobreviventesRESUMO
Invasive fungal infections remain a life threatening complication in children with hematological malignancies. The brain represents a common site of hematogenously disseminated infections from an extracranial focus. We report our experience in the diagnosis, radiological aspects and therapeutic approach of fungal brain abscesses in 2 children receiving chemotherapy for acute lymphoblastic leukemia (ALL).
Assuntos
Antineoplásicos/efeitos adversos , Abscesso Encefálico/induzido quimicamente , Meningite Criptocócica/induzido quimicamente , Neuroaspergilose/induzido quimicamente , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Abscesso Encefálico/tratamento farmacológico , Abscesso Encefálico/patologia , Pré-Escolar , Evolução Fatal , Humanos , Imageamento por Ressonância Magnética , Masculino , Meningite Criptocócica/tratamento farmacológico , Meningite Criptocócica/patologia , Neuroaspergilose/tratamento farmacológico , Neuroaspergilose/patologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicaçõesRESUMO
Treatment-related myelodysplastic syndrome (t-MDS)/acute myeloid leukemia (AML) is a devastating early or late complication of treatment for childhood cancer related with a significant morbidity and mortality. We retrospectively studied survivors of childhood cancer. Overall, 287 patients were recorded in the databases and we identified three (1.04%) with t-MDS. The primary cancer diagnoses were Langerhans cell histiocytosis (one patient) and acute lymphoblastic leukemia (ALL; two patients). The mean age of patients was 12.1 years. All patients had received systemic antifungal treatment for invasive pulmonary aspergillosis successfully treated with voriconazole and liposomal amphotericin B before diagnosis of t-MDS. Two patients (66%) remain alive after a median follow-up period of 3.5 years.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Leucemia Mieloide Aguda/tratamento farmacológico , Síndromes Mielodisplásicas/induzido quimicamente , Segunda Neoplasia Primária/tratamento farmacológico , Anfotericina B/administração & dosagem , Criança , Feminino , Humanos , Masculino , Estudos Retrospectivos , Voriconazol/administração & dosagemRESUMO
A 2.5-year-old girl was admitted due to splenomegaly and pancytopenia. Laboratory analysis revealed pancytopenia and hypergammaglobulinemia, and due to the absence of fever and the relevant clinical and hematological presentation the child was initially suspected for acute lymphoblastic leukemia. Bone marrow aspiration displayed macrophages and extracellular space containing Leishmania amastigotes. Visceral leishmaniasis diagnosis due to Leishmania infantum was confirmed by the presence of high titers of Leishmania antibodies and by PCR. The patient was successfully treated with liposomal amphotericin B but during the third post-treatment day significant increases in the levels of serum uric acid, blood urea nitrogen, and phosphate were registered. The child was successfully treated with hydration and urine alkalization and resulted in full recovery of the metabolic abnormalities.
Assuntos
Anfotericina B/uso terapêutico , Leishmania infantum/efeitos dos fármacos , Leishmaniose Visceral/tratamento farmacológico , Neoplasias/patologia , Pré-Escolar , Feminino , Humanos , Leishmaniose Visceral/diagnóstico , Leishmaniose Visceral/patologia , Neoplasias/diagnóstico , Pancitopenia/diagnóstico , Pancitopenia/tratamento farmacológico , Pancitopenia/patologia , Esplenomegalia/diagnóstico , Esplenomegalia/tratamento farmacológico , Esplenomegalia/patologia , SíndromeRESUMO
We report a case of spinal epidural hematoma (SEH) preceded by diagnostic lumbar puncture (LP) in a 5-year-old boy with acute lymphoblastic leukemia. MRI confirmed the presence of SEH between T7 and L5 levels, but the patient showed fast recovery during the next hours and conservative management was elected.