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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Pediatric Neurology Briefs Publishers
2006-08-01
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Online Access: | https://www.pediatricneurologybriefs.com/articles/1121 |
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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 |
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1724782943718604800 |