RESUMO
Mutations causing dysfunction of the tubulins and microtubule-associated proteins, otherwise known as tubulinopathies, are a group of recently described entities, that lead to complex brain malformations. An understanding of the fundamental principles of operation of the cytoskeleton and compounds in particular microtubules, actin, and microtubule-associated proteins, can assist in the interpretation of the imaging findings of tubulinopathies. Somewhat consistent morphological imaging patterns have been described in tubulinopathies such as dysmorphic basal ganglia-the hallmark (found in 75% of cases), callosal dysgenesis, cerebellar hypoplasia/dysplasia, and cortical malformations, most notably lissencephaly. Recognizing the common imaging phenotypes present in tubulinopathies can prove invaluable in directing the genetic workup for a patient with brain malformations.
Assuntos
Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Mutação/genética , Tubulina (Proteína)/genética , Criança , Humanos , FenótipoRESUMO
Disc herniation with posterior epidural migration is a rare and often symptomatic entity. Multiple are the natural barriers that prevent this pattern of migration. Enhanced magnetic resonance imaging is the diagnostic modality of choice in these cases. The diagnostic dilemma in this case was the contraindication to the use of contrast since the patient was known to have chronic renal failure.
Hérnia discal com migração epidural posterior é uma entidade rara e frequentemente sintomática. Múltiplas são as barreiras naturais que impedem esse padrão de migração. A ressonância magnética contrastada é a modalidade diagnóstica de escolha nesses casos. O dilema diagnóstico, neste caso, foi a contraindicação ao uso de contraste, uma vez que o paciente era portador de insuficiência renal crônica.