Assuntos
Malformações Arteriovenosas/diagnóstico por imagem , Capilares/anormalidades , Mancha Vinho do Porto/diagnóstico por imagem , Diagnóstico Pré-Natal , Dermatopatias Vasculares/diagnóstico por imagem , Adulto , Malformações Arteriovenosas/genética , Malformações Arteriovenosas/patologia , Capilares/diagnóstico por imagem , Capilares/patologia , Feminino , Testes Genéticos , Humanos , Recém-Nascido , Mancha Vinho do Porto/genética , Mancha Vinho do Porto/patologia , Gravidez , Dermatopatias Vasculares/genética , Dermatopatias Vasculares/patologiaRESUMO
We report the first series of cases of pericallosal curvilinear lipoma (CL) diagnosed prenatally and highlight the limitations in identifying a specific prenatal imaging pattern using ultrasound and magnetic resonance imaging (MRI). In all five of our cases, on ultrasound, the main feature leading to referral was a short corpus callosum. This subtle callosal dysgenesis was associated with a band of hyperechogenicity surrounding the corpus callosum, mimicking the pericallosal sulcus, which increased in size during the third trimester in three of the four cases in which sonographic follow-up was performed. On T2-weighted MRI, this band showed typical hypointensity in all cases; in contrast, on T1-weighted imaging, in only one case was there hyperintensity, suggestive of fat, as seen typically in the postnatal period. For appropriate prenatal counseling regarding outcome, it is important to identify or rule out CL when mild corpus callosal dysgenesis is observed. One should be aware of subtle diagnostic findings, such as a thin band of echogenicity surrounding the corpus callosum that is seen as a band of hypointensity on T2-weighted fetal MRI, and which may increase in size during gestation. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.
Assuntos
Agenesia do Corpo Caloso/diagnóstico por imagem , Neoplasias Encefálicas/diagnóstico por imagem , Corpo Caloso/diagnóstico por imagem , Lipoma/diagnóstico por imagem , Imageamento por Ressonância Magnética , Ultrassonografia Pré-Natal , Adulto , Agenesia do Corpo Caloso/embriologia , Agenesia do Corpo Caloso/patologia , Neoplasias Encefálicas/congênito , Neoplasias Encefálicas/embriologia , Corpo Caloso/embriologia , Corpo Caloso/patologia , Feminino , Aconselhamento Genético , Humanos , Recém-Nascido , Lipoma/congênito , Lipoma/embriologia , Masculino , GravidezAssuntos
Hidrocefalia , Semântica , Ventrículos Cerebrais , Doenças Fetais , Feto , Humanos , Ultrassonografia Pré-NatalRESUMO
We report a specific sonographic cerebral pattern of cobblestone lissencephaly (CL) that has not been described previously. This pattern was encountered in four index cases and allowed prenatal diagnosis of CL associated with Walker-Warburg syndrome. The pattern included both an outer echogenic band with reduced pericerebral space, corresponding to an infra- and supratentorial extracortical layer of neuroglial overmigration on pathological examination, and a 'Z'-shaped appearance of the brainstem. This pattern was found as early as 14 weeks' gestation in one of our cases.