Assuntos
Púrpura Trombocitopênica Idiopática , Pirazóis , Criança , Humanos , Portugal , Benzoatos , Hidrazinas , Doença CrônicaRESUMO
DNA ligase IV deficiency is a rare autosomal recessive disorder associated with impaired DNA repair mechanisms. Most patients with DNA repair defects present with neurologic deficits, combined immunodeficiency, bone marrow failure, and/or hematologic neoplasia. We present 3 unrelated cases of ligase IV deficiency with different clinical presentations. Patient 1 presented at the age of 5 with bone marrow failure, dysmorphic features, and T and B lymphopenia. A compound heterozygous variant L19W/K635fs in the LIG4 gene was identified. Patient 2 presented at the age of 16 with recurrent infections. He had agammaglobulinemia and absent B cells. A homozygous R278H in the LIG4 gene was identified. Patient 3 was referred for vitiligo and B-cell lymphopenia (low class-switched B cells) and hypogammaglobulinemia. Homozygous R278H in LIG4 was also identified. In the last few years, the spectrum of clinical manifestations caused by ligase IV deficiency has widened, making it very difficult to establish an accurate clinical diagnosis. The use of NGS allows a proper diagnosis and provides a better prognosis and adequate family counseling.
Assuntos
Leucopenia , Linfopenia , Transtornos da Insuficiência da Medula Óssea , DNA Ligases/genética , Homozigoto , Humanos , MasculinoAssuntos
Anemia Aplástica/diagnóstico , Ataxia/diagnóstico , Doenças da Medula Óssea/diagnóstico , Neoplasias Encefálicas/diagnóstico , Calcinose/diagnóstico , Cistos do Sistema Nervoso Central/diagnóstico , Disceratose Congênita/diagnóstico , Hemoglobinúria Paroxística/diagnóstico , Leucoencefalopatias/diagnóstico , Espasticidade Muscular/diagnóstico , Doenças Retinianas/diagnóstico , Convulsões/diagnóstico , Anemia Aplástica/congênito , Ataxia/complicações , Doenças da Medula Óssea/congênito , Transtornos da Insuficiência da Medula Óssea , Neoplasias Encefálicas/complicações , Calcinose/complicações , Cistos do Sistema Nervoso Central/complicações , Criança , Diagnóstico Diferencial , Hemoglobinúria Paroxística/congênito , Humanos , Leucoencefalopatias/complicações , Masculino , Espasticidade Muscular/complicações , Doenças Retinianas/complicações , Doenças Retinianas/congênito , Convulsões/complicaçõesRESUMO
Pantoea agglomerans has been classically associated with cellulitis or synovitis secondary to penetrating trauma by vegetation. It is an infrequent cause of systemic infections. We describe the case of a 5-year-old girl with sickle cell disease with P. agglomerans bacteremia and review its potential causes.
Assuntos
Anemia Falciforme/complicações , Infecções por Enterobacteriaceae/tratamento farmacológico , Pantoea/patogenicidade , Anemia Falciforme/tratamento farmacológico , Anemia Falciforme/microbiologia , Antibacterianos/uso terapêutico , Bacteriemia/microbiologia , Pré-Escolar , Feminino , Humanos , Resultado do TratamentoRESUMO
Fetomaternal alloimmune thrombocytopenia (FMAIT) caused by maternal antibodies is the leading cause of severe neonatal thrombocytopenia. A 1-month-old Caucasian girl was referred to our Hematology Clinic for persistent thrombocytopenia diagnosed after a bleeding episode. Diagnostic tests suggested FMAIT. Mild thrombocytopenia persisted for 18 months, and subsequent findings of dysmorphic facies, short stature and mild pulmonary stenosis led to the hypothesis of Noonan syndrome (NS), which was confirmed by genetic test. Other hematological abnormalities were excluded and she had no further bleeding episodes. This case illustrates the possibility of different diagnoses with the same clinical manifestations. The persistence of thrombocytopenia longer than expected associated with typical physical features led to the diagnosis of NS.