Linked Life Data

17410586

Source:http://linkedlifedata.com/resource/pubmed/id/17410586

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2007-7-3
pubmed:abstractText
Infantile olivopontocerebellar atrophy (OPCA) is a rare congenital disorder likely due to an intrauterine neurodegenerative condition. Characteristic presentations are failure to thrive, cerebellar ataxia, respiratory insufficiency, and hypotonia or hypertonia. A few cases with severe manifestations (eg, the Pena-Shokeir phenotype) presenting in the neonatal period have also been reported. We present a case of infantile OPCA with the Pena-Shokeir II phenotype and severe atrophy of the cerebellum and cerebral hemispheres. Comparison of prenatal sonographic findings of the fetal brain at 30 weeks' menstrual age and CT findings during the neonatal period indicated prenatal onset of the neurodegenerative process, which progressed rapidly during the last trimester.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0091-2751
pubmed:author
pubmed:copyrightInfo
(c) 2007 Wiley Periodicals, Inc.
pubmed:issnType
Print
pubmed:volume
35
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
347-50
pubmed:meshHeading
pubmed:articleTitle
Severe form of congenital cerebral and cerebellar atrophy: a neurodegenerative disorder of fetal onset.
pubmed:affiliation
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, India.
pubmed:publicationType
Journal Article, Comparative Study, Case Reports