Linked Life Data

16458826

Source:http://linkedlifedata.com/resource/pubmed/id/16458826

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2006-2-6
pubmed:abstractText
This report describes a male infant who presented since birth with rigidity and hypokinesia. Severe developmental delay, episodic central hypoventilation, and drug-resistant epilepsy progressively added to the extrapyramidal signs in the following months and led to the patient's death at 10 months of age. Neuroradiologic and neurometabolic evaluations were negative. Normal cerebrospinal metabolites excluded a defect in dopamine metabolism, and treatment with levodopa failed to improve his motor symptoms. Neuropathologic findings demonstrated dentato-olivary dysplasia. While isolated dentato-olivary dysplasia has been described in a few cases of Ohtahara syndrome, to our knowledge, the association with infantile parkinsonism has not been previously reported.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0887-8994
pubmed:author
pubmed:issnType
Print
pubmed:volume
34
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
132-4
pubmed:dateRevised
2006-5-23
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Neonatal rigid-akinetic syndrome and dentato-olivary dysplasia.
pubmed:affiliation
Pediatric Neurology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
pubmed:publicationType
Journal Article, Case Reports