Linked Life Data

3374764

Source:http://linkedlifedata.com/resource/pubmed/id/3374764

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1988-6-27
pubmed:abstractText
The authors report two cases with severe cerebro-ocular malformations and muscular dystrophy who died at 14 and 8 months of age. In both, muscular dystrophy was confirmed by EMG and high muscle enzyme values. In one case, autopsy showed severe cerebral malformation consisting of lissencephaly, hydrocephalus, agenesis of corpus callosum, chiasma and olfactory bulb and lobe, absence of pyramides and cerebellar vermis. In sections of cerebral cortex a clear absence of structural cellular organization and spongiosis of the white matter were evident. Similar disorganization was found in the cerebellum where numerous calcifications were present. The muscle showed signs of primitive muscular dystrophy. The clinical autonomy of the cerebro-ocular-dysplasia-muscular-dystrophy syndrome is discussed. The clinical and pathological data are compared with the two other similar syndromes (i.e. Fukuyama's and Warburg's diseases).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
109-12
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases.
pubmed:affiliation
Istituto di Scienze Neurologiche, Centro per lo Studio delle Encefalo-Neuro-Miopatie Genetiche, Università di Siena, Italia.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't