RESUMO
Macrophage activation syndrome (MAS) is a multisystemic disorder resulting from an over-activation of the immune system leading to a more or less diffuse macrophagic infiltration into the tussues. Clinical signs including fever, hepatosplenomegaly, adenopathy are associated with abnormal values in laboratory test results (bi or pancytopenia, hepatic cytolysis, elevated LDH levels, coagulopathy) and hemophagocytosis. In children, it can be primary or secondary to several disorders. We report the case of a 16-year old patient admitted to the Department of Pediatrics with febrile leukopenia associated with impaired general condition and circular erythematous lesions spread to the lower limbs. The diagnosis of macrophage activation syndrome was retained based on clinical signs, laboratory test results and cytological results. Skin biopsy of these lesions showed subcutaneous panniculitis-like T-cell lymphoma. The purpose of this study is to insists on the peculiarities of this clinical case given the rarity of this type of subcutaneous T-cell lymphoma, much more in this age group. We want to highlight the importance of suspecting subcutaneous T-cell lymphoma in patients with MAS associated with subcutaneous erythematous lesions because this could be life threatening.
Assuntos
Linfoma Cutâneo de Células T/diagnóstico , Síndrome de Ativação Macrofágica/etiologia , Paniculite/diagnóstico , Neoplasias Cutâneas/diagnóstico , Adolescente , Neutropenia Febril/etiologia , Humanos , Linfoma Cutâneo de Células T/patologia , Masculino , Paniculite/patologia , Neoplasias Cutâneas/patologia , Tela Subcutânea/patologiaRESUMO
Fanconi anemia is a recessive disorder associated with chromosomal instability. It is marked by phenotypical heterogeneity which includes medullary deficiency, a variable malformation syndrome, a predisposition to develop acute leukaemias myéloïdes (ALM) and a cellular over-sensitiveness with the agents bridging the ADN. The diagnosis is based on the abnormal increase in the rate of spontaneous breaks chromosomal but especially and in a specific way, on a clear increase in these chromosomal breaks in the presence of bifunctional alkylating agents, which is the case in our six patients. Genetic counseling is that available for autosomal recessive diseases. We report our initial observations conducted at the University Hospital (CHU) Hassan II of Fez confirmed by the detection of a large chromosomal instability after culture with Mitomycin C compared to a normal control group. The purpose of this study was to update our knowledge of Fanconi anemia genes and to highlight the role of cytogenetics in its diagnosis and the genetic counseling for better management of affected children and their families.
Assuntos
Instabilidade Cromossômica/genética , Análise Citogenética/métodos , Anemia de Fanconi/diagnóstico , Criança , Pré-Escolar , Anemia de Fanconi/genética , Feminino , Aconselhamento Genético/métodos , Hospitais Universitários , Humanos , Masculino , Marrocos , Estudos RetrospectivosAssuntos
Degeneração Hepatolenticular/epidemiologia , Adolescente , Anemia Hemolítica/etiologia , Ceruloplasmina/análise , Terapia por Quelação , Criança , Pré-Escolar , Consanguinidade , Cobre , Diagnóstico Precoce , Feminino , Testes Genéticos , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/tratamento farmacológico , Degeneração Hepatolenticular/genética , Humanos , Hipertensão Portal/etiologia , Cirrose Hepática/etiologia , Masculino , Marrocos/epidemiologia , Penicilamina/uso terapêutico , Estudos Retrospectivos , Avaliação de Sintomas , Sulfato de Zinco/uso terapêuticoRESUMO
Inflammatory myofibroblastic tumor is a rare benign lesion whose tumor origin is now proven. It represents 0.7% of all lung tumors. We report the case of a three-year-old child who suffered from a chronic cough with recurrent respiratory infections. Chest X-ray and computed tomography revealed the presence of a left lower lobe lung mass. After pneumonectomy, histological examination combined with immunohistochemical study discovered an inflammatory myofibroblastic tumor.The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/8722069326962972.