Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 Mutations
Abstract
Four young boys with neonatal onset of encephalopathy, a progressive course, and MECP2 mutations are reported from the University of Alabama, Birmingham, AL Symptoms suggestive of Rett syndrome included failure to thrive, respiratory insufficiency, microcephaly, hypotonia, movement disorder, with myoclonic, dyskinetic, and choreiform patterns, and repetitive face scratching or nose rubbing stereotypies.
DOI: https://doi.org/10.15844/pedneurbriefs-20-8-3 | Journal eISSN: 2166-6482
Language: English
Page range: 59 - 59
Published on: Aug 1, 2006
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services
© 2006 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.