Pediatric Neurology Briefs
Published 2006 | Version v1.0.0
Journal Article Open

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

Creators

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.

Files

PNB-20-59-a.pdf

Files (1.2 MB)

Name Size Download all
md5:f9fc54781b2c59c2d085022325b5fddd
1.2 MB Preview Download

Additional details

Identifiers

Other
PNB-20-59-a

Dates

Created
2006
When the item was originally created.