Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 Mutations

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 my...

Full description

Bibliographic Details
Published in:Pediatric Neurology Briefs
Main Author: J Gordon Millichap
Format: Article
Language:English
Published: Pediatric Neurology Briefs Publishers 2006-08-01
Subjects:
progressive encephalopathy
rett syndrome
mecp2 mutations
Online Access:https://www.pediatricneurologybriefs.com/articles/1121
Description
Summary: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.
ISSN:1043-3155
2166-6482

Similar Items