RESUMO
Introduction: Immunologic and hemato-oncologic disorders in the pediatric population represent an interrelated and complex group of conditions whose approach, diagnosis, and management could be difficult. Multidisciplinary teams have been proved beneficial in treating such complexities. Methods: We conducted a retrospective observational study at a tertiary hospital in Madrid, Spain, which is a pediatric immunology and onco-hematology referral center. We included all patients of multidisciplinary outpatient consultation, comprising a working group of pediatric oncohematologists and immunologists, between April 2016 and December 2019. Epidemiologic, clinical, and laboratory data were collected. We analyzed these data and established a relationship between age and findings of final diagnosis as well as variance on diagnoses prior to their multidisciplinary assessment and number of visits to the consultation. Results: In all, 93 children and adolescents were included in this study. Laboratory abnormalities were the most frequent reason for being referred to our unit (87.2%); 78% of children had a previously diagnosed comorbidity. Before starting follow-up in the multidisciplinary consultation, 14% of patients were diagnosed, and after the study by the multidisciplinary team, the final diagnosis was reached in 58.1% of patients. No correlation was discovered between final diagnosis and gender (P = 0.29), age (biserial correlation coefficient, r = 0.036, P = 0.70), and number of visits (P = 0.07). Conclusion: A multidisciplinary approach to immunologic, hematologic, and oncologic pediatric diseases is feasible. It can be a powerful and useful tool for diagnosis and treatment, especially in complex pediatric patients (AU)
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Equipe de Assistência ao Paciente , Neoplasias Hematológicas/terapia , Avaliação de Resultados em Cuidados de Saúde , Estudos RetrospectivosRESUMO
INTRODUCTION: Cerebellar mutism syndrome (CMS) is a common complication after posterior fossa tumor resection. It is characterized by a significant lack or loss of speech. Its biological origin remains unclear and there are no standardized treatments. However, bromocriptine seems to be a possible treatment for this condition. CASE REPORT: In this paper, we present three cases of pediatric patients (4, 5, and 17-year old) who developed CMS after posterior fossa tumor surgery. They were treated with bromocriptine to improve neurological symptoms.Management and outcome: Bromocriptine was started at a low dose and was progressively increased to reach the minimum effective dose. After four months of treatment, a normal and fluid speech was observed in the three patients. No discontinuation due to adverse events were reported. DISCUSSION: Bromocriptine has shown to be an effective and safe treatment for CMS in pediatric patients after posterior fossa tumor resection.
Assuntos
Neoplasias Cerebelares , Neoplasias Infratentoriais , Meduloblastoma , Mutismo , Bromocriptina/uso terapêutico , Neoplasias Cerebelares/tratamento farmacológico , Neoplasias Cerebelares/cirurgia , Criança , Humanos , Mutismo/tratamento farmacológico , Mutismo/etiologia , Complicações Pós-Operatórias/tratamento farmacológicoRESUMO
Congenital dyserythropoietic anemias (CDA) are disorders characterized by ineffective erythropoiesis and morphological anomalies in erythrocytes and erythroblasts. The purpose of this study is to identify the gene variants in patients diagnosed with CDA. We analyzed five unrelated patients and two siblings with a targeted panel of genes to CDA: CDAN1, CDIN1, SEC23B, KIF23, KLF1, and GATA1 genes. We found three novel variants in the CDIN1 gene (p.Leu136Val, p.Tyr247Cys, and p.Ile273Thr), four known variants in the SEC23B gene (p.Arg14Trp, p.Arg554Ter, p.Asp239Gly, and p.Ser436Leu), and one novel variant in the KIF23 gene (p.Leu945Trpfs*31). The in silico analysis of novel variants predict that they are pathogenic and, the in vitro study confirms the functional impact of the KIF23 variant on the protein location.
Assuntos
Anemia Diseritropoética Congênita/classificação , Anemia Diseritropoética Congênita/genética , Proteínas Associadas aos Microtúbulos/genética , Mutação de Sentido Incorreto , Adolescente , Adulto , Substituição de Aminoácidos , Criança , Feminino , Humanos , MasculinoRESUMO
Omeprazole significantly increases duodenal prostaglandin E2 synthesis. Prostaglandins are involved in hair growth regulation: prostaglandin E2 and prostaglandin F2 alpha stimulate hair growth, and prostaglandin D2 has an inhibitory effect. The use of omeprazole can cause acquired generalized hypertrichosis by increasing prostaglandin E2 levels.
Assuntos
Hipertricose/induzido quimicamente , Omeprazol/efeitos adversos , Inibidores da Bomba de Prótons/efeitos adversos , Criança , Humanos , Lactente , MasculinoRESUMO
We describe the case of a 33-week preterm infant who developed nonimmune hydrops fetalis secondary to a kaposiform hemangioendothelioma (KHE). The tumor was successfully treated with vincristine, prednisone, ticlopidine, and aspirin. KHE can be an unusual cause of hydrops fetalis; in such cases, diagnosis can be challenging since generalized edema can obscure KHE.
Assuntos
Hemangioendotelioma/diagnóstico por imagem , Hemangioendotelioma/tratamento farmacológico , Hidropisia Fetal/diagnóstico , Recém-Nascido Prematuro , Síndrome de Kasabach-Merritt/diagnóstico por imagem , Síndrome de Kasabach-Merritt/tratamento farmacológico , Imageamento por Ressonância Magnética/métodos , Sarcoma de Kaposi/diagnóstico por imagem , Sarcoma de Kaposi/tratamento farmacológico , Vincristina/administração & dosagem , Administração Oral , Aspirina/administração & dosagem , Cesárea , Diagnóstico Diferencial , Quimioterapia Combinada , Seguimentos , Idade Gestacional , Hemangioendotelioma/diagnóstico , Humanos , Hidropisia Fetal/diagnóstico por imagem , Infusões Intravenosas , Síndrome de Kasabach-Merritt/diagnóstico , Masculino , Prednisona/administração & dosagem , Sarcoma de Kaposi/diagnóstico , Ticlopidina/administração & dosagem , Resultado do TratamentoRESUMO
The familial tumor predisposition syndrome known as DICER1-pleuropulmonary blastoma (PPB) or DICER1 tumor predisposition syndrome was first described in 2009, and it involves an increased risk in the occurrence of various tumors, like cystic nephroma and PPB. Here is presented a girl with a cystic nephroma and two cystic lung lesions who was diagnosed years later with the DICER1 gene mutation. This mutation was also found in one of her parents. Thus, the screening for the DICER1 gene mutation may be important in children with certain/multiple tumors and their families.