Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
|
pubmed:dateCreated |
1999-6-8
|
pubmed:abstractText |
A patient presented with rapid developmental regression whose MRI findings suggested a leukodystrophy, but nerve, muscle, skin, and bone marrow biopsies were unrevealing. A characteristic photoparoxysmal response on electroencephalogram provided an important clue for the correct diagnosis of late infantile neuronal ceroid-lipofuscinosis, which was confirmed later with electron microscope examination of a brain biopsy. In patients with rapid neurologic deterioration, diagnosis of neuronal ceroid-lipofuscinosis should be considered and an electroencephalogram should be performed using photic stimulation to look for characteristic findings.
|
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
|
pubmed:month |
Nov
|
pubmed:issn |
0887-8994
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
19
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
395-8
|
pubmed:dateRevised |
2006-11-15
|
pubmed:meshHeading |
pubmed-meshheading:9880149-Biopsy,
pubmed-meshheading:9880149-Child, Preschool,
pubmed-meshheading:9880149-Diagnosis, Differential,
pubmed-meshheading:9880149-Electroencephalography,
pubmed-meshheading:9880149-Female,
pubmed-meshheading:9880149-Humans,
pubmed-meshheading:9880149-Lysosomes,
pubmed-meshheading:9880149-Magnetic Resonance Imaging,
pubmed-meshheading:9880149-Microscopy, Electron,
pubmed-meshheading:9880149-Neuronal Ceroid-Lipofuscinoses,
pubmed-meshheading:9880149-Photic Stimulation,
pubmed-meshheading:9880149-Temporal Lobe
|
pubmed:year |
1998
|
pubmed:articleTitle |
Photoparoxysmal response in late infantile neuronal ceroid-lipofuscinosis.
|
pubmed:affiliation |
Department of Neurology and Pediatrics, University of North Carolina at Chapel Hill, 27599-7025, USA.
|
pubmed:publicationType |
Journal Article,
Case Reports
|