Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1978-8-28
pubmed:abstractText
The authors have reported a case of cerebral lipidosis (type Jansky-Bielschowsky) in which the presenting features appeared at the age of 2 years 10 months, and consisted of clonic seizures followed by atonic attacks and atypical absences. The association of seizures, severe mental disturbances and EEG abnormalities with an interseizure abnormality (diffuse slow waves) led to an initial misdiagnosis of the Lennox-Gastaut syndrome. The diagnosis which is suspected on the basis of clinical features (epilepsy, mental deterioration, pyramidal features), EEG signs (spikes on photic stimulation at low frequency or isolated) and ophthalmological investigations (ERG reduced response, abnormal VERs) was eventually made by rectal biopsy.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0370-4475
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
175-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
[A case of cerebral lipidosis with an atypical presentation (author's transl)].
pubmed:publicationType
Journal Article, In Vitro, English Abstract, Case Reports