Aspectos clínicos e microscopia eletrônica de varredura da membrana colódio de um caso de bebê colódio auto-limitado e de síndrome MEND

Abstract

We describe the case of a newborn with MEND, which presents in addition to the membrane collodium, polydactyly, Syndactyly, microphthalmia, corpus callosum agenesis, agenesis of vérmix Cerebellar, cerebellar hypoplasia, and Dandy Walker cyst. It was still Analysis by scanning electron microscopy Collagen membrane and genetic sequencing of the EBP gene. Is responsible for the encoding of the enopamil binding enzyme. In the electron microscopy findings, there was an intense Desquamation of corneocytes on the outer face of the collodic membrane, Nucleated corneocytes on the inner face, and several layers of Forming a thick membrane. The DNA test found New mutation in the EBP gene in exon 4 c.439C> T, p.R147C.New Cases need to be sought, and should be reported for the best Knowledge of this disease.