Linked Life Data

2514103

Source:http://linkedlifedata.com/resource/pubmed/id/2514103

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1990-2-14
pubmed:abstractText
The authors report a sporadic case of Lafora's disease, unusual for the comparatively late age at onset and atypical evolution. Discrete visual phenomena that may be considered as partial seizures occurred at age 19 years. A generalized tonic-clonic seizure occurred at 20 years of age and myoclonus became apparent a few weeks later. A massive cognitive dysfunction was clearly apparent 3 months after the first seizure and further mental deterioration occurred although seizures were controlled by medication and myoclonus remained minimal. The EEG showed the typical association of generalized and focal (occipital) changes. Axillary++ skin and muscle biopsies were positive and easily confirmed the diagnosis. The clinical presentation of Lafora's disease is considered by the authors to be sufficient for a clinical diagnosis, even in such an atypical case. Confirmation by skin biopsy is easily obtainable.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0014-3022
pubmed:author
pubmed:issnType
Print
pubmed:volume
29
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
333-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
Semi-late onset and rapidly progressive case of Lafora's disease with predominant cognitive symptoms.
pubmed:affiliation
Centre Saint-Paul, Marseille, France.
pubmed:publicationType
Journal Article, Case Reports