Linked Life Data

19433275

Source:http://linkedlifedata.com/resource/pubmed/id/19433275

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2009-5-12
pubmed:abstractText
In more than two thirds of cases, glutaric aciduria type I begins in the first 3 years of life with an acute encephalopathic crisis with hypotonia or generalized rigidity, neurologic depression, irritability, seizures, and dystonia. The clinical histories were reviewed for 13 glutaric aciduria type I patients (9 male, 4 female; mean age, 8.7 months; range, 3-15 months) with encephalopathic crisis seen at Sant Joan de Déu Hospital, to describe the clinical features and the initial electroencephalographic (EEG) findings. Twelve of the patients (92%) had paroxysmal episodes at onset. Other clinical features included irritability (12/13), neurologic depression (11/13), and hypotonia (7/13). All patients evolved to dystonic tetraparesis. Thirty-five EEGs were recorded in the acute stage and during the first year of follow-up. Spike discharges on EEG were observed in only 2 of the 13 patients, and 8 had slow background activity. No patient developed seizures during follow-up. Seizures may be part of the symptomatology at the onset of glutaric aciduria type I, but most paroxysmal movements appear to be dystonic episodes. This hypothesis is supported by four facts: seizures do not occur after dystonic tetraparesis is noticed, EEG paroxysms are infrequent in the acute stage, antiepileptic drugs are not needed in the long term, and epilepsy is rare in the follow-up.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1873-5150
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
40
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
426-31
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I.
pubmed:affiliation
Neurology Department, Sant Joan de Déu Hospital, Barcelona, Spain.
pubmed:publicationType
Journal Article