RESUMEN
SATB2-associated syndrome (SAS) is a rare disorder characterized by developmental delay, behavioral problems, and craniofacial anomalies in particular dental and palatal abnormalities. We describe the clinical course, genetic and autopsy findings in a Chinese boy with global developmental delay, hypotonia, epilepsy, recurrent fractures and osteopenia. Brain magnetic resonance imaging showed pachygyria, white matter hypoplasia and hypogenesis of the corpus callosum. Whole-exome sequencing identified a novel heterozygous missense variant c.1555G>A p.(Glu519Lys) in the SATB2 gene. Unfortunately, he died at 26 months of bronchiolitis and pneumonia. Autopsy revealed pachygyria which was more severe anteriorly, dilated lateral and third ventricles and partial agenesis of the corpus callosum. Histology showed features compatible with two-layered lissencephaly. The bone showed disordered lamination and bone matrix. Although SATB2 has been shown to be involved in the regulation of neuronal migration in the developing brain, lissencephaly has not been reported so far. This could represent a more severe phenotype of SAS.
Asunto(s)
Enfermedades Óseas Metabólicas , Lisencefalia , Proteínas de Unión a la Región de Fijación a la Matriz , Enfermedades Óseas Metabólicas/diagnóstico , Enfermedades Óseas Metabólicas/genética , Enfermedades Óseas Metabólicas/patología , Encéfalo/anomalías , China , Humanos , Lisencefalia/patología , Imagen por Resonancia Magnética , Masculino , Proteínas de Unión a la Región de Fijación a la Matriz/genética , Síndrome , Factores de Transcripción/genéticaRESUMEN
A bronchial artery embolization (BAE) is an important therapeutic method used to control acute and chronic hemoptysis. We report a case of multiple micro-infarcts involving both the kidneys and spleen, following a BAE with 500-700 microm crossed-linked tris-acryl microspheres (Embospheres) in a patient with bronchial artery pulmonary vein shunts. The superior penetration characteristics of the microspheres may have resulted in the greater tendency to cross the bronchial artery pulmonary vein shunts, which subsequently caused the systemic infarcts in our patient. We propose the use of larger sized microspheres (700-900 microm), which may aid in avoiding this complication.
