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1.
Rev Laryngol Otol Rhinol (Bord) ; 134(3): 157-9, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24974410

RESUMO

Bronchogenic cyst of the tongue is rare. We report the case of a 17-month baby who has a lingual lesion. MRI shows a well-defined cystic lesion. Treatment consisted of a complete resection and histology found a pseudostratified respiratory type epithelium. Only 10 pediatric cases of bronchogenic cyst of the tongue have been reported in the literature. MRI is the imaging modality of choice and treatment is always surgical. The final diagnosis is made by histology.


Assuntos
Cisto Broncogênico/patologia , Doenças da Língua/patologia , Cisto Broncogênico/cirurgia , Humanos , Achados Incidentais , Lactente , Masculino , Doenças da Língua/cirurgia
2.
Arch Pediatr ; 17(1): 38-41, 2010 Jan.
Artigo em Francês | MEDLINE | ID: mdl-19914050

RESUMO

Among the etiologies of anemia in the newborn, those related to mitochondrial cytopathies are rare. Pearson syndrome is mostly diagnosed during infancy and characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells and exocrine pancreatic dysfunction. We describe two diagnosed cases of Pearson syndrome in the early neonatal period caused by severe macrocytic aregenerative anemia. Bone marrow aspiration revealed sideroblastic anemia and vacuolization of erythroblastic precursors. The diagnosis was confirmed by genetic analysis revealing a deletion in the mitochondrial DNA. These two newborns received monthly transfusions. Five other newborns suffering from Pearson syndrome with various clinical symptoms were found in literature. Pearson syndrome, rarely diagnosed in newborns, should be suspected in the presence of macrocytic aregenerative anemia and requires a bone marrow aspirate followed by a genetic analysis from a blood sample.


Assuntos
Anemia Macrocítica/genética , Anemia Neonatal/genética , Anemia Sideroblástica/genética , Anemia Macrocítica/patologia , Anemia Neonatal/patologia , Anemia Sideroblástica/patologia , Biópsia por Agulha , Medula Óssea/patologia , Consanguinidade , Análise Mutacional de DNA , DNA Mitocondrial/genética , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Síndrome
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