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

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...

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Bibliographic Details
Main Author: J Gordon Millichap
Format: Article
Language:English
Published: Pediatric Neurology Briefs Publishers 2006-08-01
Series:Pediatric Neurology Briefs
Subjects:
progressive encephalopathy
rett syndrome
mecp2 mutations
Online Access:https://www.pediatricneurologybriefs.com/articles/1121
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spelling doaj-02e91bafffb648088bbe0a7782ceb2a72020-11-25T02:40:07ZengPediatric Neurology Briefs PublishersPediatric Neurology Briefs1043-31552166-64822006-08-01208595910.15844/pedneurbriefs-20-8-31107Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 MutationsJ Gordon Millichap0Northwestern University Feinberg School of MedicineFour 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.https://www.pediatricneurologybriefs.com/articles/1121progressive encephalopathyrett syndromemecp2 mutations
collection DOAJ
language English
format Article
sources DOAJ
author J Gordon Millichap
spellingShingle J Gordon Millichap
Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 Mutations
Pediatric Neurology Briefs
progressive encephalopathy
rett syndrome
mecp2 mutations
author_facet J Gordon Millichap
author_sort J Gordon Millichap
title Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 Mutations
title_short Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 Mutations
title_full Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 Mutations
title_fullStr Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 Mutations
title_full_unstemmed Progressive Encephalopathy in Boys with Symptoms of Rett Syndrome and MECP2 Mutations
title_sort progressive encephalopathy in boys with symptoms of rett syndrome and mecp2 mutations
publisher Pediatric Neurology Briefs Publishers
series Pediatric Neurology Briefs
issn 1043-3155
2166-6482
publishDate 2006-08-01
description 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.
topic progressive encephalopathy
rett syndrome
mecp2 mutations
url https://www.pediatricneurologybriefs.com/articles/1121
work_keys_str_mv AT jgordonmillichap progressiveencephalopathyinboyswithsymptomsofrettsyndromeandmecp2mutations
_version_ 1724782943718604800

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