Linked Life Data

12776232

Source:http://linkedlifedata.com/resource/pubmed/id/12776232

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2003-5-30
pubmed:abstractText
Aspartoacylase deficiency is a neurodegenerative disease which typically starts in the first months of life with muscular hypotonia and developmental standstill. One of the first diagnostic procedures in this situation is an ultrasound of the brain. There is little information available about sonographic changes in Canavan disease. We present for the first time an ultrasound follow-up in a proven case of aspartoacylase deficiency from 3 weeks to 22 months. High echogenicity of the white matter was present in the neonatal period. Additional sonographic phenomena resulting in a characteristic pattern were shown in further investigations. The distinctive sonomorphology is compared to a few other cases in the literature. The correlation to the neuropathological course of the white matter changes is discussed. Recognition of the sonographic features in addition to the clinical presentation may contribute to an effective biochemical work-up.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
34
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
96-9
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Ultrasound findings in follow-up investigations in a case of aspartoacylase deficiency (canavan disease).
pubmed:affiliation
Abteilung Pädiatrische Neurologie, Universitäts-Kinderklinik Heidelberg, Heidelberg, Germany. NBreitbach-Faller@ukaachen.de
pubmed:publicationType
Journal Article, Case Reports